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<title>
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Entry
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- *107680 - APOLIPOPROTEIN A-I; APOA1
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*107680</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/107680">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000118137;t=ENST00000236850" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=335" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=107680" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000118137;t=ENST00000236850" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000039,NM_001318017,NM_001318018,NM_001318021,NM_001425090,NM_001425091,NM_001425092,NM_001425093" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000039" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=107680" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02517&isoform_id=02517_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/APOA1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/28772,113992,178768,178773,178775,178777,296635,296729,512410,553183,732753,1330306,4557321,4960066,13529242,19569153,37499465,45593391,82571472,119587678,119587679,119587680,119587681,158257894,167887482,167887483,167887484,167887485,167887486,308219676,407914471,966751411,966751413,966751415,2599597547,2599597557,2599597560,2599597574" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P02647" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
|
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</div>
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=335" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000118137;t=ENST00000236850" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=APOA1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+335" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/APOA1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:335" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/335" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000236850.5&hgg_start=116835751&hgg_end=116837622&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/apoa1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=107680[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=107680[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000118137" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=APOA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=APOA1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=APOA1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=APOA1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA49" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:600" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88049" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/APOA1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:88049" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/335/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=335" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050302-172" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:335" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=APOA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238095002, 9133005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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107680
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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APOLIPOPROTEIN A-I; APOA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
APOLIPOPROTEIN OF HIGH DENSITY LIPOPROTEIN
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
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APOA1/APOC3 FUSION GENE, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=APOA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">APOA1</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/960?start=-3&limit=10&highlight=960">11q23.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:116835751-116837622&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:116,835,751-116,837,622</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=620657,618463,619836" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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Hypoalphalipoproteinemia, primary, 2
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Hypoalphalipoproteinemia, primary, 2, intermediate
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<li><a href="/graph/radial/107680" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>APOA1 is the major protein component of high density lipoprotein (HDL) in plasma and is primarily synthesized in liver and small intestine (summary by <a href="#31" class="mim-tip-reference" title="Halley, P., Kadakkuzha, B. M., Faghihi, M. A., Magistri, M., Zeier, Z., Khorkova, O., Coito, C., Hsiao, J., Lawrence, M., Wahlestedt, C. <strong>Regulation of the apolipoprotein gene cluster by a long noncoding RNA.</strong> Cell Rep. 6: 222-230, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24388749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24388749</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24388749[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2013.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24388749">Halley et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24388749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Breslow, J. L., Ross, D., McPherson, J., Williams, H., Kurnit, D., Nussbaum, A. L., Karathanasis, S. K., Zannis, V. I. <strong>Isolation and characterization of cDNA clones for human apolipoprotein A-I.</strong> Proc. Nat. Acad. Sci. 79: 6861-6865, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6294659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6294659</a>] [<a href="https://doi.org/10.1073/pnas.79.22.6861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6294659">Breslow et al. (1982)</a> isolated and characterized cDNA clones for human apoA-I. Apolipoprotein A-I is the major apoprotein of HDL and is a relatively abundant plasma protein with a concentration of 1.0-1.5 mg/ml. It is a single polypeptide chain with 243 amino acid residues of known primary amino acid sequence (<a href="#10" class="mim-tip-reference" title="Brewer, H. B., Jr., Fairwell, T., LaRue, A., Ronan, R., Houser, A., Bronzert, T. J. <strong>The amino acid sequence of human apoA-I, an apolipoprotein isolated from high density lipoproteins.</strong> Biochem. Biophys. Res. Commun. 80: 623-630, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/204308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">204308</a>] [<a href="https://doi.org/10.1016/0006-291x(78)91614-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="204308">Brewer et al., 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6294659+204308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>ApoA-I is a cofactor for LCAT (<a href="/entry/606967">606967</a>), which is responsible for the formation of most cholesteryl esters in plasma. ApoA-I also promotes efflux of cholesterol from cells. The liver and small intestine are the sites of synthesis of apoA-I. The primary translation product of the APOA1 gene contains both a pre and a pro segment, and posttranslational processing of apoA-I may be involved in the formation of the functional plasma apoA-I isoproteins. The primary gene transcript encodes a preproapoA-I containing 24 amino acids on the amino terminus of the mature plasma apoA-I (<a href="#50" class="mim-tip-reference" title="Law, S. W., Gray, G., Brewer, H. B., Jr. <strong>cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.</strong> Biochem. Biophys. Res. Commun. 112: 257-264, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6404278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6404278</a>] [<a href="https://doi.org/10.1016/0006-291x(83)91824-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6404278">Law et al., 1983</a>). <a href="#18" class="mim-tip-reference" title="Dayhoff, M. O. <strong>Atlas of Protein Sequence and Structure. Vol. 5. Suppl. 2.</strong> Washington, D. C.: National Biomedical Research Foundation (pub.) 1976."None>Dayhoff (1976)</a> pointed to sequence homologies of A-I, A-II (<a href="/entry/107670">107670</a>), C-I (<a href="/entry/107710">107710</a>), and C-III (<a href="/entry/107720">107720</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6404278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#105" class="mim-tip-reference" title="Yui, Y., Aoyama, T., Morishita, H., Takahashi, M., Takatsu, Y., Kawai, C. <strong>Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I): a novel function of Apo A-I.</strong> J. Clin. Invest. 82: 803-807, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3047170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3047170</a>] [<a href="https://doi.org/10.1172/JCI113682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3047170">Yui et al. (1988)</a> found that apoA-I is identical to serum PGI(2) stabilizing factor (PSF). They noted that PGI(2), or prostacyclin, is synthesized by the vascular endothelium and smooth muscle, and functions as a potent vasodilator and inhibitor of platelet aggregation. They suggested that the stabilization of PGI(2) by HDL and apoA-I may be an important protective action against the accumulation of platelet thrombi at sites of vascular damage. The beneficial effects of HDL in the prevention of coronary artery disease may be partly explained by this effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3047170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#53" class="mim-tip-reference" title="Martinez, L. O., Jacquet, S., Esteve, J.-P., Rolland, C., Cabezon, E., Champagne, E., Pineau, T., Georgeaud, V., Walker, J. E., Terce, F., Collet, X., Perret, B., Barbaras, R. <strong>Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.</strong> Nature 421: 75-79, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511957</a>] [<a href="https://doi.org/10.1038/nature01250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12511957">Martinez et al. (2003)</a> identified a high affinity HDL receptor for apolipoprotein A1 as the beta chain of ATP synthase (ATP5B; <a href="/entry/102910">102910</a>), a principal protein complex of the mitochondrial inner membrane. They used a variety of experimental approaches to confirm this ectopic localization of components of the ATP synthase complex and the presence of ATP hydrolase activity at the hepatocyte cell surface. Receptor stimulation by apoA-I triggers the endocytosis of holo-HDL particles (protein plus lipid) by a mechanism that depends strictly on the generation of ADP. <a href="#53" class="mim-tip-reference" title="Martinez, L. O., Jacquet, S., Esteve, J.-P., Rolland, C., Cabezon, E., Champagne, E., Pineau, T., Georgeaud, V., Walker, J. E., Terce, F., Collet, X., Perret, B., Barbaras, R. <strong>Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.</strong> Nature 421: 75-79, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511957</a>] [<a href="https://doi.org/10.1038/nature01250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12511957">Martinez et al. (2003)</a> confirmed this effect on endocytosis in perfused rat liver ex vivo by using a specific inhibitor of ATP synthase. Thus, <a href="#53" class="mim-tip-reference" title="Martinez, L. O., Jacquet, S., Esteve, J.-P., Rolland, C., Cabezon, E., Champagne, E., Pineau, T., Georgeaud, V., Walker, J. E., Terce, F., Collet, X., Perret, B., Barbaras, R. <strong>Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.</strong> Nature 421: 75-79, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511957</a>] [<a href="https://doi.org/10.1038/nature01250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12511957">Martinez et al. (2003)</a> concluded that membrane-bound ATP synthase has a previously unsuspected role in modulating the concentrations of extracellular ADP and is regulated by a principal plasma apolipoprotein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12511957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#106" class="mim-tip-reference" title="Zhang, Y., Zanotti, I., Reilly, M. P., Glick, J. M., Rothblat, G. H., Rader, D. J. <strong>Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.</strong> Circulation 108: 661-663, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900335</a>] [<a href="https://doi.org/10.1161/01.CIR.0000086981.09834.E0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12900335">Zhang et al. (2003)</a> injected (3)H-cholesterol-labeled macrophage foam cells intraperitoneally into mice overexpressing Apoa1 and control mice and detected (3)H-cholesterol in plasma, lung, spleen, liver, and feces. Mice overexpressing Apoa1 had significantly higher plasma (3)H-cholesterol and higher (3)H-tracer in the liver and excreted 63% more (3)H-tracer into feces over 48 hours than did control mice (p less than 0.05). <a href="#106" class="mim-tip-reference" title="Zhang, Y., Zanotti, I., Reilly, M. P., Glick, J. M., Rothblat, G. H., Rader, D. J. <strong>Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.</strong> Circulation 108: 661-663, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900335</a>] [<a href="https://doi.org/10.1161/01.CIR.0000086981.09834.E0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12900335">Zhang et al. (2003)</a> concluded that APOA1 overexpression promotes macrophage-specific reverse cholesterol transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Halley, P., Kadakkuzha, B. M., Faghihi, M. A., Magistri, M., Zeier, Z., Khorkova, O., Coito, C., Hsiao, J., Lawrence, M., Wahlestedt, C. <strong>Regulation of the apolipoprotein gene cluster by a long noncoding RNA.</strong> Cell Rep. 6: 222-230, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24388749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24388749</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24388749[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.celrep.2013.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24388749">Halley et al. (2014)</a> identified APOA1AS as an antisense long noncoding RNA (lncRNA) of the APOA1 gene. Knockdown of APOA1AS via short interfering RNA in HepG2 cells resulted in increased expression of APOA1 and its neighboring genes APOC3 and APOA4 (<a href="/entry/107690">107690</a>) in the APO gene cluster on chromosome 11. Chromatin immunoprecipitation analysis of an approximately 50-kb chromatin region flanking the APOA1 gene demonstrated that APOA1AS modulated distinct histone methylation patterns that marked active and/or inactive gene expression by recruitment of histone-modifying enzymes. Downregulation of APOA1AS via short antisense oligonucleotides led to increased APOA1 expression in both human and monkey liver cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24388749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#48" class="mim-tip-reference" title="Law, S. W., Gray, G., Brewer, H. B., Jr., Naylor, S. L., Sakaguchi, A. Y. <strong>Human apo A-I gene resides in the p11-q13 region of chromosome 11. (Abstract)</strong> Cytogenet. Cell Genet. 37: 520 only, 1984."None>Law et al. (1984)</a> assigned the APOA1 gene to 11p11-q13 by filter hybridization analysis of human-mouse cell hybrid DNAs. The genes for apoA-I and apoC-III are on chromosome 9 in the mouse. Mouse homologs of other genes on human 11p (insulin, beta-globin, LDHA, HRAS) are situated on mouse chromosome 7. Using a cDNA probe to detect apoA-I structural gene sequences in human-Chinese hamster cell hybrids, <a href="#13" class="mim-tip-reference" title="Cheung, P., Kao, F.-T., Law, M. L., Jones, C., Puck, T. T., Chan, L. <strong>Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.</strong> Proc. Nat. Acad. Sci. 81: 508-511, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6420790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6420790</a>] [<a href="https://doi.org/10.1073/pnas.81.2.508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6420790">Cheung et al. (1984)</a> assigned the gene to the region 11q13-qter. Since other information had suggested 11p11-q13 as the location, the SRO becomes 11q13. It is noteworthy that in the mouse and in man, APOA1 and PGBD (called Ups in the mouse) are syntenic. Both are on chromosome 11 in man and chromosome 9 in the mouse. <a href="#11" class="mim-tip-reference" title="Bruns, G. A. P., Karathanasis, S. K., Breslow, J. L. <strong>Human apolipoprotein A-I-C-III gene complex is located on chromosome 11.</strong> Arteriosclerosis 4: 97-102, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6422919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6422919</a>] [<a href="https://doi.org/10.1161/01.atv.4.2.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6422919">Bruns et al. (1984)</a> localized the genes for apoA-I and apoC-III (previously shown to be in a 3-kb segment of the genome; <a href="#8" class="mim-tip-reference" title="Breslow, J. L., Ross, D., McPherson, J., Williams, H., Kurnit, D., Nussbaum, A. L., Karathanasis, S. K., Zannis, V. I. <strong>Isolation and characterization of cDNA clones for human apolipoprotein A-I.</strong> Proc. Nat. Acad. Sci. 79: 6861-6865, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6294659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6294659</a>] [<a href="https://doi.org/10.1073/pnas.79.22.6861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6294659">Breslow et al., 1982</a>; <a href="#89" class="mim-tip-reference" title="Shoulders, C. C., Kornblihtt, A. R., Munro, B. S., Baralle, F. E. <strong>Gene structure of human apolipoprotein A-I.</strong> Nucleic Acids Res. 11: 2827-2837, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6406984</a>] [<a href="https://doi.org/10.1093/nar/11.9.2827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6406984">Shoulders et al., 1983</a>) to chromosome 11 by Southern blot analysis of DNA from human-rodent cell hybrids. Because in the mouse apoA-I is on chromosome 9 and apoA-II is on chromosome 1 (<a href="#52" class="mim-tip-reference" title="Lusis, A. J., Taylor, B. A., Wagenstein, R. W., LeBoeuf, R. C. <strong>Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.</strong> J. Biol. Chem. 258: 5071-5078, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403543</a>]" pmid="6403543">Lusis et al., 1983</a>), the gene for human apoA-II is probably not on chromosome 11. Indeed, APOA2 (<a href="/entry/107670">107670</a>) is on human chromosome 1. On the basis of data provided by <a href="#72" class="mim-tip-reference" title="Pearson, P. L. <strong>Personal Communication.</strong> Leiden, The Netherlands 9/1987."None>Pearson (1987)</a>, the APOA1 locus was assigned to 11q23-qter by HGM9. This would place APOC3 and APOA4 in the same region. Because the XmnI genotype at the APOA1 locus was heterozygous in a boy with partial deletion of the long arm of chromosome 11, del(11)(q23.3-qter), <a href="#3" class="mim-tip-reference" title="Arinami, T., Hirano, T., Kobayashi, K., Yamanouchi, Y., Hamaguchi, H. <strong>Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3-qter).</strong> Hum. Genet. 85: 39-40, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972696</a>] [<a href="https://doi.org/10.1007/BF00276323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1972696">Arinami et al. (1990)</a> localized the gene to 11q23 by excluding the region 11q24-qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6406984+6420790+6294659+1972696+6403543+6422919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Haddad, I. A., Ordovas, J. M., Fitzpatrick, T., Karathanasis, S. K. <strong>Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.</strong> J. Biol. Chem. 261: 13268-13277, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020028</a>]" pmid="3020028">Haddad et al. (1986)</a> found that in the rat, as in man, the APOA1, APOC3 and APOA4 genes are closely linked. Indeed, their direction of transcription, size, relative location and intron-exon organization were found to be remarkably similar to those of the corresponding human genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The APOA1 and APOC3 genes are oriented 'foot-to-foot,' i.e., the 3-prime end of APOA1 is followed after an interval of about 2.5 kb by the 3-prime end of APOC3 (<a href="#39" class="mim-tip-reference" title="Karathanasis, S. K., McPherson, J., Zannis, V. I., Breslow, J. L. <strong>Linkage of human apolipoproteins A-I and C-III genes.</strong> Nature 304: 371-373, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308458</a>] [<a href="https://doi.org/10.1038/304371a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308458">Karathanasis et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6308458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Hypoalphalipoproteinemia, Primary, 2</em></strong></p><p>
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Many variants in the APOA1 gene have been identified, some of which have been associated with hypoalphalipoproteinemia leading to atherosclerosis, xanthoma, and corneal opacity (see <a href="/entry/618463">618463</a>). Mutations that result in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C) are more likely to result in severe manifestations. In general, individuals with half-normal levels of apoA-I and HDL-C do not have increased cardiovascular risk (summary by <a href="#75" class="mim-tip-reference" title="Rader, D. J., deGoma, E. J. <strong>Approach to the patient with extremely low HDL-cholesterol.</strong> J. Clin. Endocr. Metab. 97: 3399-4407, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23043194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23043194</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23043194[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/jc.2012-2185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23043194">Rader and deGoma, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23043194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Lack of detectable plasma apolipoprotein A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion (summary by <a href="#85" class="mim-tip-reference" title="Schaefer, E. J., Santos, R. D., Asztalos, B. F. <strong>Marked HDL deficiency and premature coronary heart disease.</strong> Curr. Opin. Lipid. 21: 289-297, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616715</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616715[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1097/MOL.0b013e32833c1ef6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20616715">Schaefer et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20616715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To determine the frequency of de novo hypoalphalipoproteinemia in the general population due to mutation in the APOA1 gene, <a href="#104" class="mim-tip-reference" title="Yamakawa-Kobayashi, K., Yanagi, H., Fukayama, H., Hirano, C., Shimakura, Y., Yamamoto, N., Arinami, T., Tsuchiya, S., Hamaguchi, H. <strong>Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.</strong> Hum. Molec. Genet. 8: 331-336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931341</a>] [<a href="https://doi.org/10.1093/hmg/8.2.331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931341">Yamakawa-Kobayashi et al. (1999)</a> analyzed sequence variations in the APOA1 gene in 67 children with a low high-density lipoprotein cholesterol level. These children were selected from 1,254 school children through a school survey. Four different mutations with deleterious potential, 3 frameshifts and 1 splice site mutation, were identified in 4 subjects. The plasma apoA-I levels of the 4 children with these mutations were reduced to approximately half of the normal levels and were below the first percentile of the general population distribution (80 mg/dl). The frequency of hypoalphalipoproteinemia due to a mutant APOA1 gene was estimated at 6% in subjects with low HDL cholesterol levels and 0.3% in the Japanese population generally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an otherwise healthy 42-year-old man with massive corneal clouding, <a href="#24" class="mim-tip-reference" title="Funke, H., von Eckardstein, A., Pritchard, P. H., Karas, M., Albers, J. J., Assmann, G. <strong>A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin:cholesterol-acyltransferase deficiency, and corneal opacities.</strong> J. Clin. Invest. 87: 371-376, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898657</a>] [<a href="https://doi.org/10.1172/JCI114997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1898657">Funke et al. (1991)</a> identified a homozygous 1-bp deletion in the APOA1 gene (<a href="#0014">107680.0014</a>) as the basic defect responsible for complete absence of HDL from the plasma and corneal opacities. Heterozygous carriers of the deletion, including the proband's mother and 3 of this children, showed approximately half-normal HDL cholesterol concentrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Japanese woman with apoA-I deficiency, xanthomas, and premature atherosclerosis reported by <a href="#36" class="mim-tip-reference" title="Hiasa, Y., Maeda, T., Mori, H. <strong>Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease.</strong> Clin. Cardiol. 9: 349-352, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3089658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3089658</a>] [<a href="https://doi.org/10.1002/clc.4960090709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3089658">Hiasa et al. (1986)</a>, <a href="#54" class="mim-tip-reference" title="Matsunaga, T., Hiasa, Y., Yanagi, H., Maeda, T., Hattori, N., Yamakawa, K., Yamanouchi, Y., Tanaka, I., Obara, T., Hamaguchi, H. <strong>Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.</strong> Proc. Nat. Acad. Sci. 88: 2793-2797, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1901417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1901417</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1901417">Matsunaga et al. (1991)</a> identified homozygosity for a nonsense mutation in the APOA1 gene (Q84X; <a href="#0015">107680.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1901417+3089658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Sicilian woman, born to first-cousin parents, who developed bilateral periorbital xanthelasmas during her first pregnancy at age 22, <a href="#81" class="mim-tip-reference" title="Romling, R., von Eckardstein, A., Funke, H., Motti, C., Fragiacomo, G. C., Noseda, G., Assmann, G. <strong>A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.</strong> Arterioscler. Thromb. 14: 1915-1922, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981179</a>] [<a href="https://doi.org/10.1161/01.atv.14.12.1915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981179">Romling et al. (1994)</a> identified homozygosity for a nonsense mutation (Q32X; <a href="#0019">107680.0019</a>) in the APOA1 gene. The xanthelasmas did not progress after delivery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hypoalphalipoproteinemia, Primary, 2, Intermediate</em></strong></p><p>
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In 3 healthy Japanese individuals, including a 10-year-old proband and her 34-year-old mother and 36-year-old maternal aunt, with low levels of apoA-I and HDL-C levels, <a href="#57" class="mim-tip-reference" title="Nakata, K., Kobayashi, K., Yanagi, H., Shimakura, Y., Tsuchiya, S., Arinami, T., Hamaguchi, H. <strong>Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.</strong> Biochem. Biophys. Res. Commun. 196: 950-955, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240372</a>] [<a href="https://doi.org/10.1006/bbrc.1993.2341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240372">Nakata et al. (1993)</a> identified a heterozygous mutation in the APOA1 gene (<a href="#0018">107680.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Combined ApoA-I and ApoC-III Deficiency</em></strong></p><p>
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<a href="#78" class="mim-tip-reference" title="Rees, A., Shoulders, C. C., Stocks, J., Galton, D. J., Baralle, F. E. <strong>DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.</strong> Lancet 321: 444-446, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6131168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6131168</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)91440-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6131168">Rees et al. (1983)</a> studied the cloned APOA1 gene and a DNA polymorphism 3-prime to it. <a href="#80" class="mim-tip-reference" title="Rees, A., Stocks, J., Sharpe, C. R., Vella, M. A., Shoulders, C. C., Katz, J., Jowett, N. I., Baralle, F. E., Galton, D. J. <strong>Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C-III gene cluster: association with hypertriglyceridemia.</strong> J. Clin. Invest. 76: 1090-1095, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2995445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2995445</a>] [<a href="https://doi.org/10.1172/JCI112062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2995445">Rees et al. (1985)</a> found a strong correlation between hypertriglyceridemia and a DNA sequence polymorphism located in or near the 3-prime noncoding region of APOC3 and revealed by digestion of human DNA with the restriction enzyme Sst-1 and hybridization with an APOA1 cDNA probe. In 74 hypertriglyceridemic Caucasians, 3 were homozygous and 23 were heterozygous for the polymorphism, giving a gene frequency of 0.19; none of 52 normotriglyceridemics had the polymorphism, although it was frequent in Africans, Chinese, Japanese, and Asian Indians. No differences in high density lipoprotein or in apolipoproteins A-I and C-III phenotypes were found in persons with or without the polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2995445+6131168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Ferns, G. A. A., Stocks, J., Ritchie, C., Galton, D. J. <strong>Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.</strong> Lancet 326: 300-303, 1985. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2862468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2862468</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)90350-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2862468">Ferns et al. (1985)</a> found an uncommon allelic variant (called S2) of the apoA-I/C-III gene cluster in 10 of 48 postmyocardial infarction patients (21%). In 47 control subjects it was present in only 2 and in none of those who were normotriglyceridemic. (The S2 allele, a DNA polymorphism, is characterized by SstI restriction fragments of 5.7 and 3.2 kb, whereas the common S1 allele produces fragments of 5.7 and 4.2 kb.) <a href="#20" class="mim-tip-reference" title="Ferns, G. A. A., Stocks, J., Ritchie, C., Galton, D. J. <strong>Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.</strong> Lancet 326: 300-303, 1985. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2862468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2862468</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)90350-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2862468">Ferns et al. (1985)</a> found no difference in the distribution of alleles in the highly polymorphic region of 11p near the insulin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2862468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In Japanese, <a href="#79" class="mim-tip-reference" title="Rees, A., Stocks, J., Paul, H., Ohuchi, Y., Galton, D. <strong>Haplotypes identified by DNA polymorphisms at the apolipoprotein A-I and C-III loci and hypertriglyceridaemia: a study in a Japanese population.</strong> Hum. Genet. 72: 168-171, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3080367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3080367</a>] [<a href="https://doi.org/10.1007/BF00283939" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3080367">Rees et al. (1986)</a> found association of triglyceridemia with a different haplotype of the A-I/C-III region than that found in Caucasians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3080367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Ferns, G. A. A., Shelley, C. S., Stocks, J., Rees, A., Paul, H., Baralle, F., Galton, D. J. <strong>A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.</strong> Hum. Genet. 74: 302-306, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877939</a>] [<a href="https://doi.org/10.1007/BF00282553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877939">Ferns et al. (1986)</a> found a common allele of the APOA2 locus which showed a weak association with hypertriglyceridemia; in contrast, an uncommon allele of the APOA1-APOC3-APOA4 gene cluster demonstrated a stronger relationship with hypertriglyceridemia. <a href="#19" class="mim-tip-reference" title="Ferns, G. A. A., Shelley, C. S., Stocks, J., Rees, A., Paul, H., Baralle, F., Galton, D. J. <strong>A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.</strong> Hum. Genet. 74: 302-306, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877939</a>] [<a href="https://doi.org/10.1007/BF00282553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877939">Ferns et al. (1986)</a> found higher levels of serum triglycerides with possession of both disease-related alleles than with either singly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In certain patients with premature atherosclerosis, <a href="#38" class="mim-tip-reference" title="Karathanasis, S. K., Ferris, E., Haddad, I. A. <strong>DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.</strong> Proc. Nat. Acad. Sci. 84: 7198-7202, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3118360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3118360</a>] [<a href="https://doi.org/10.1073/pnas.84.20.7198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3118360">Karathanasis et al. (1987)</a> demonstrated a DNA inversion containing portions of the 3-prime ends of the APOA1 and APOC3 genes, including the DNA region between these genes. The breakpoints of this DNA inversion were found to be located between the fourth exon of the APOA1 gene and the first intron of the APOC3 gene; thus, the inversion results in reciprocal fusion of the 2 gene transcriptional units. The absence of transcripts with correct mRNA sequences causes deficiency of both apolipoproteins in the plasma of these patients, leading to atherosclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3118360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In addition to its ability to remove cholesterol from cells, HDL also delivers cholesterol to cells through a poorly defined process in which cholesteryl esters are selectively transferred from HDL particles into the cell without the uptake and degradation of the lipoprotein particle. In steroidogenic cells of rodents, the selective uptake pathway accounts for 90% or more of the cholesterol destined for steroid production or cholesteryl ester accumulation. To test the importance of the 3 major HDL proteins in determining cholesteryl ester accumulation in steroidogenic cells of the adrenal gland, ovary, and testis, <a href="#73" class="mim-tip-reference" title="Plump, A. S., Erickson, S. K., Weng, W., Partin, J. S., Breslow, J. L., Williams, D. L. <strong>Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.</strong> J. Clin. Invest. 97: 2660-2671, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8647961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8647961</a>] [<a href="https://doi.org/10.1172/JCI118716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8647961">Plump et al. (1996)</a> used mice which had been rendered deficient in apoA-I, apoA-II, or apoE by gene targeting in embryonic stem cells. ApoE and apoA-II deficiencies were found to have only modest effects on cholesteryl ester accumulation. In contrast, apoA-I deficiency caused an almost complete failure to accumulate cholesteryl ester in steroidogenic cells. <a href="#73" class="mim-tip-reference" title="Plump, A. S., Erickson, S. K., Weng, W., Partin, J. S., Breslow, J. L., Williams, D. L. <strong>Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.</strong> J. Clin. Invest. 97: 2660-2671, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8647961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8647961</a>] [<a href="https://doi.org/10.1172/JCI118716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8647961">Plump et al. (1996)</a> interpreted these results as indicating that apoA-I is essential for the selective uptake of HDL cholesteryl esters. They stated that the lack of apoA-I has a major impact on adrenal gland physiology, causing diminished basal corticosteroid production, a blunted steroidogenic response to stress, and increased expression of compensatory pathways to provide cholesterol substrate for steroid production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8647961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Combined ApoA-I/C-III/A-IV Deficiency</em></strong></p><p>
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<a href="#84" class="mim-tip-reference" title="Schaefer, E. J., Heaton, W. H., Wetzel, M. G., Brewer, H. B., Jr. <strong>Plasma apolipoprotein A-I, absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.</strong> Arteriosclerosis 2: 16-26, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6800349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6800349</a>] [<a href="https://doi.org/10.1161/01.atv.2.1.16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6800349">Schaefer et al. (1982)</a> studied the plasma lipids of a middle-aged woman who died following coronary artery bypass grafting for atherosclerotic narrowing of multiple arteries. She had markedly reduced high density lipoprotein, no detectable apolipoprotein A-I, normal A-II, and moderately reduced apolipoproteins B and C. Both of her children, all 6 of her living sibs, and both parents had reduced apolipoprotein A-I and HDL levels and normal apolipoprotein A-II. Three of the sibs and their mother had coronary disease. The proband had corneal clouding due to diffuse lipid deposits in the epithelial cells; none of the heterozygotes had this finding. Ordavas et al. (1989) demonstrated that all of the APOA1/APOC3/APOA4 gene complex was deleted from a point about 3.1 kb 5-prime to the APOA1 gene to a point 3-prime to the APOA4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6800349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Combined Hyperlipidemia</em></strong></p><p>
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<a href="#34" class="mim-tip-reference" title="Hayden, M. R., Kirk, H., Clark, C., Frohlich, J., Rabkin, S., McLeod, R., Hewitt, J. <strong>DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.</strong> Am. J. Hum. Genet. 40: 421-430, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883893</a>]" pmid="2883893">Hayden et al. (1987)</a> found an association between certain RFLPs and familial combined hyperlipidemia (FCHL; <a href="/entry/144250">144250</a>). In studies of 3 restriction enzyme polymorphisms in the AI-CIII-AIV gene cluster, <a href="#15" class="mim-tip-reference" title="Dallinga-Thie, G. M., van Linde-Sibenius Trip, M., Rotter, J. I., Cantor, R. M., Bu, X., Lusis, A. J., de Bruin, T. W. A. <strong>Complex c genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia: identification of different susceptibility haplotypes.</strong> J. Clin. Invest. 99: 953-961, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9062353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9062353</a>] [<a href="https://doi.org/10.1172/JCI119260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9062353">Dallinga-Thie et al. (1997)</a> analyzed haplotypes and showed an association with severe hyperlipidemia in subjects with FCHL. Furthermore, nonparametric sib pair linkage analysis revealed significant linkage between these markers in the gene cluster and the FCHL phenotype. The findings confirmed that the AI-CIII-AIV gene cluster contributes to the FCHL phenotype, but this contribution is genetically complex. An epistatic interaction between different haplotypes of the gene cluster was demonstrated. They concluded that 2 different susceptibility loci exist in the gene cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2883893+9062353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hereditary Systemic Amyloidosis 3</em></strong></p><p>
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<a href="#25" class="mim-tip-reference" title="Genschel, J., Haas, R., Propsting, M. J., Schmidt, H. H.-J. <strong>Apolipoprotein A-I induced amyloidosis.</strong> FEBS Lett. 430: 145-149, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9688527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9688527</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00668-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9688527">Genschel et al. (1998)</a> counted 4 naturally occurring mutant forms of apoA-I that were known at that time to result in amyloidosis (see AMYLD3, <a href="/entry/620657">620657</a>). The most important feature of all variants was the very similar formation of N-terminal fragments found in the amyloid deposits. They summarized the specific features of all known amyloidogenic variants of APOA1 and speculated about the metabolic pathway involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9688527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#83" class="mim-tip-reference" title="Schaefer, E. J., Anthanont, P., Diffenderfer, M. R., Polisecki, E., Asztalos, B. F. <strong>Diagnosis and treatment of high density lipoprotein deficiency.</strong> Prog. Cardiovasc. Dis. 59: 97-106, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27565770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27565770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27565770[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.pcad.2016.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27565770">Schaefer et al. (2016)</a> reviewed apoA-I-derived amyloidosis. The majority of the amyloidogenic mutations are located in 2 hotspot regions in that span amino acid residues 26-107 and 154-178. The mutations result in the formation of apoA-I-amyloid protein complexes. This causes enhanced amyloid proteolysis and amyloid deposition of 9-11 kD N-terminal fragments as fibrils in the kidney, liver, and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27565770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#82" class="mim-tip-reference" title="Sadaf, A., Siddiqui, S., Lestringant, G. G., Frossard, P. M. <strong>Apolipoprotein AI promoter variant in blood pressure determination. (Letter)</strong> Clin. Genet. 61: 314-316, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030900</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030900">Sadaf et al. (2002)</a> found an association between a variant of the APOA1 promoter (the G-to-A difference at position -75) and blood pressure in a study in the United Arab Emirates. Both systolic and diastolic blood pressure varied in a gene-dosage-related manner in individuals of the AA, AG, and GG genotypes, with lowest pressures associated with the GG genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See <a href="#0029">107680.0029</a> for discussion of a possible association between variation in the APOA1 gene and an increase in HDL-C levels.</p>
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<p><a href="#96" class="mim-tip-reference" title="Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A. <strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong> J. Biol. Chem. 257: 501-507, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7082443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7082443</a>]" pmid="7082443">Utermann et al. (1982)</a> described methods for rapid screening and characterization of variant group A apolipoproteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7082443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Kessling, A. M., Horsthemke, B., Humphries, S. E. <strong>A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals.</strong> Clin. Genet. 28: 296-306, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2998654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2998654</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00403.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2998654">Kessling et al. (1985)</a> failed to find an association between any allele of several RFLPs studied and hypertriglyceridemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Buraczynska, M., Hanzlik, J., Grzywa, M. <strong>Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.</strong> Am. J. Hum. Genet. 37: 1129-1137, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936351</a>]" pmid="3936351">Buraczynska et al. (1985)</a> found association between an EcoRI polymorphism of the APOA1 gene and noninsulin-dependent diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3936351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 generations of a Norwegian kindred, <a href="#86" class="mim-tip-reference" title="Schamaun, O., Olaisen, B., Gedde-Dahl, T., Jr., Teisberg, P. <strong>Genetic studies of an apoA-I lipoprotein variant.</strong> Hum. Genet. 64: 380-383, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6413385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6413385</a>] [<a href="https://doi.org/10.1007/BF00292371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6413385">Schamaun et al. (1983)</a> found, by 2-D electrophoresis, a variant of apolipoprotein A-I. Codominant inheritance was displayed. One homozygote was identified. There was no obvious cardiovascular disease, even in the homozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6413385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Kessling, A. M., Rajput-Wiliams, J., Bainton, D., Scott, J., Miller, N. E., Baker, I., Humphries, S. E. <strong>DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.</strong> Am. J. Hum. Genet. 42: 458-467, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2894758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2894758</a>]" pmid="2894758">Kessling et al. (1988)</a> studied the high density lipoprotein-cholesterol concentrations along with restriction fragment length polymorphisms in the APOA2 and APOA1-APOC3-APOA4 gene cluster in 109 men selected from a random sample of 1,910 men aged 45 to 59 years. They found no significant difference in allelic frequencies at either locus between the groups of individuals with high and low HDL cholesterol levels. They did find an association between a PstI RFLP associated with apoA-I and genetic variation determining the plasma concentration of apoA-I. No significant association was found between alleles for the apoA-II MspI RFLP and apoA-II or HDL concentrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2894758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Antonarakis, S. E., Oettgen, P., Chakravarti, A., Halloran, S. L., Hudson, R. R., Feisee, L., Karathanasis, S. K. <strong>DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.</strong> Hum. Genet. 80: 265-273, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903847</a>] [<a href="https://doi.org/10.1007/BF01790095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2903847">Antonarakis et al. (1988)</a> studied DNA polymorphism of a 61-kb segment of 11q that contains the APOA1, APOC3, and APOA4 genes within a 15-kb stretch. Eleven RFLPs located within the 61-kb segment were used by haplotype analysis. Considerable linkage disequilibrium was found. Several haplotypes had arisen by recombination and the rate of recombination within the gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. Taken individually, the polymorphism information content (PIC) of each of the 11 polymorphisms ranged from 0.053 to 0.375, while that of their haplotypes ranged between 0.858 and 0.862. (The PIC value, which was introduced by <a href="#6" class="mim-tip-reference" title="Botstein, D., White, R., Skolnick, M., Davis, R. <strong>Construction of a genetic linkage map in man using restriction fragment length polymorphism.</strong> Am. J. Hum. Genet. 32: 314-331, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6247908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6247908</a>]" pmid="6247908">Botstein et al. (1980)</a> in their classic paper on the use of RFLPs as linkage markers, represents the sum of the frequency of each possible mating multiplied by the probability that an offspring will be informative.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2903847+6247908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#95" class="mim-tip-reference" title="Thompson, E. A., Deeb, S., Walker, D., Motulsky, A. G. <strong>The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.</strong> Am. J. Hum. Genet. 42: 113-124, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892394</a>]" pmid="2892394">Thompson et al. (1988)</a> investigated the seeming paradox that 2 RFLPs at the A-I/C-III cluster were in strong linkage disequilibrium while a third variant, located between the 2 other markers, appeared to be in linkage equilibrium with these 2 'outside' markers. <a href="#95" class="mim-tip-reference" title="Thompson, E. A., Deeb, S., Walker, D., Motulsky, A. G. <strong>The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.</strong> Am. J. Hum. Genet. 42: 113-124, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892394</a>]" pmid="2892394">Thompson et al. (1988)</a> showed that, for the gene frequencies encountered, very large sample sizes would be required to demonstrate negative (i.e., repulsion-phase) linkage disequilibrium. Such numbers are usually difficult to attain in human studies. Therefore, failure to demonstrate linkage disequilibrium by conventional methods does not necessarily imply its absence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a PstI polymorphism at the 3-prime end of the APOA1 gene, <a href="#71" class="mim-tip-reference" title="Ordovas, J. M., Schaefer, E. J., Salem, D., Ward, R. H., Glueck, C. J., Vergani, C., Wilson, P. W. F., Karathanasis, S. K. <strong>Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.</strong> New Eng. J. Med. 314: 671-677, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3081805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3081805</a>] [<a href="https://doi.org/10.1056/NEJM198603133141102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3081805">Ordovas et al. (1986)</a> found the rarer allele ('3.3-kb band') in 4.1% of 123 randomly selected control subjects and 3.3% of 30 subjects with no angiographic evidence of coronary artery disease. In contrast, among 88 patients who had severe coronary artery disease before age 60, as documented by angiography, the frequency was 32%. It was also found in 8 of 12 index cases of kindreds with familial hypoalphalipoproteinemia. Among all patients with coronary artery disease, 58% had HDL cholesterol levels below the 10th percentile; however, this frequency increased to 73% when patients with the 3.3-kb band were considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3081805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Smith, J. D., Brinton, E. A., Breslow, J. L. <strong>Polymorphism in the human apolipoprotein A-I gene promoter region: association of the minor allele with decreased production rate in vivo and promoter activity in vitro.</strong> J. Clin. Invest. 89: 1796-1800, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1601989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1601989</a>] [<a href="https://doi.org/10.1172/JCI115783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1601989">Smith et al. (1992)</a> investigated the common G/A polymorphism in the APOA1 gene promoter at a position 76 bp upstream of the transcriptional start site (-76). Of 54 subjects whose apoA-I production rates had been determined by turnover studies, 35 were homozygous for a guanosine at this locus and 19 were heterozygous for a guanosine and adenosine (G/A). The apoA-I production rates were significantly lower (by 11%) in the G/A heterozygotes than in the G homozygotes (p = 0.025). However, no effect on HDL cholesterol or apoA-I levels were noted. Differential gene expression of the 2 alleles was tested by linking each of the alleles to the reporter gene chloramphenicol acetyltransferase and determining relative promoter efficiencies after transfection into the human HepG2 hepatoma cell line. The A allele, as well as the G allele, expressed only 68%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1601989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Naganawa, S., Ginsberg, H. N., Glickman, R. M., Ginsburg, G. S. <strong>Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.</strong> J. Clin. Invest. 99: 1958-1965, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109440</a>] [<a href="https://doi.org/10.1172/JCI119363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9109440">Naganawa et al. (1997)</a> reported 2 haplotypes due to 5 polymorphisms in the intestinal enhancer region of the APOA1 gene in endoscopic biopsy samples from healthy volunteers. The mutant haplotype had a population frequency of 0.44; frequency of wildtype was 0.53. APOA1 mRNA levels were 49% lower in mutant haplotype homozygotes than in wildtype homozygotes, while APOA1 synthesis was 37% lower than wildtype in individuals homozygous for the mutant allele. Heterozygotes had 28% and 41% reductions of mRNA levels and APOA1 synthesis, respectively, as compared to wildtype homozygotes. Expression studies in Caco-2 cells showed a 46% decrease in transcriptional activity in cells containing the mutant constructs, and binding of Caco-2 nuclear proteins in mutant, but not wildtype, sequences. <a href="#56" class="mim-tip-reference" title="Naganawa, S., Ginsberg, H. N., Glickman, R. M., Ginsburg, G. S. <strong>Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.</strong> J. Clin. Invest. 99: 1958-1965, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109440</a>] [<a href="https://doi.org/10.1172/JCI119363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9109440">Naganawa et al. (1997)</a> concluded that intestinal APOA1 transcription and protein synthesis were reduced in the presence of common mutations which induced nuclear protein binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9109440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retraction</em></strong></p><p>
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The article by <a href="#1" class="mim-tip-reference" title="Ajees, A. A., Anantharamaiah, G. M., Mishra, V. K., Hussain, M. M., Murthy, H. M. K. <strong>Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.</strong> Proc. Nat. Acad. Sci. 103: 2126-2131, 2006. Note: Editorial Expression of Concern: Proc. Nat. Acad. Sci. 107: 6551 only, 2010. Retraction: Proc. Nat. Acad. Sci. 115: E6966, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16452169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16452169</a>] [<a href="https://doi.org/10.1073/pnas.0506877103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16452169">Ajees et al. (2006)</a> describing the crystal structure of human APOA1 was retracted by the publisher because the US Office of Research Integrity found that 'H. M. Krishna Murthy falsified and/or fabricated the protein crystal structure of apolipoprotein A-I reported in this article and the corresponding structure factors and coordinate file deposited in the Protein Data Bank for entry 2A01.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16452169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>29 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=107680[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28931573 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28931573;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28931573?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28931573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28931573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#22" class="mim-tip-reference" title="Franceschini, G., Sirtori, C. R., Capurso, A., II, Weisgraber, K. H., Mahley, R. W. <strong>A-I (Milano) apoprotein: decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.</strong> J. Clin. Invest. 66: 892-900, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7430351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7430351</a>] [<a href="https://doi.org/10.1172/JCI109956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7430351">Franceschini et al. (1980)</a> found hypertriglyceridemia with mildly reduced levels of high density lipoprotein (HDL) levels in father, son, and daughter of an Italian family (<a href="/entry/619836">619836</a>). The affected persons showed no clinical signs of atherosclerosis and the family had no unusual occurrence of atherosclerotic disease. Analytical isoelectric focusing of HDL apoproteins and 2-dimensional immunoelectrophoresis against apoA antiserum showed quantitative and qualitative changes in apolipoprotein A-I. In the anomalous protein, <a href="#102" class="mim-tip-reference" title="Weisgraber, K. H., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R. <strong>A-I (Milano) apoprotein: isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins.</strong> J. Clin. Invest. 66: 901-907, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6776144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6776144</a>] [<a href="https://doi.org/10.1172/JCI109957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6776144">Weisgraber et al. (1980)</a> found a cysteine residue which is not present in the normal apoprotein. The anomalous protein was designated A-I (Milano) and denoted A-I (cys) by them. This was the first discovered example of variation in the amino acid sequence of a plasma lipoprotein. Serum cholesterol was normal. <a href="#103" class="mim-tip-reference" title="Weisgraber, K. H., Rall, S. C., Jr., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R. <strong>Apolipoprotein A-I (Milano): detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.</strong> J. Biol. Chem. 258: 2508-2513, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401735</a>]" pmid="6401735">Weisgraber et al. (1983)</a> showed that cysteine is substituted for arginine at position 173. This change in the protein probably reflects a change of CGC to TGC, since this is the only possibility requiring change of a single nucleotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6401735+7430351+6776144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Gualandri, V., Franceschini, G., Sirtori, C. R., Gianfranceschi, G., Orsini, G. B., Cerrone, A., Menotti, A. <strong>AI(Milano) apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.</strong> Am. J. Hum. Genet. 37: 1083-1097, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936350</a>]" pmid="3936350">Gualandri et al. (1985)</a> traced the origin of the gene for A-I (Milano) to Limone sul Garda, a small community of about 1,000 persons in northern Italy. In a study of the entire population, 33 living carriers were found, ranging in age from 2 to 81 years. The genealogy showed origin of all cases from a single couple living in the 18th century. Despite low HDL cholesterol levels and increased (though not significantly so) mean level of triglycerides, no evidence of increased atherosclerosis was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3936350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#88" class="mim-tip-reference" title="Shah, P. K., Yano, J., Reyes, O., Chyu, K.-Y., Kaul, S., Bisgaier, C. L., Drake, S., Cercek, B. <strong>High-dose recombinant apolipoprotein A-I(Milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein E-deficient mice: potential implications for acute plaque stabilization.</strong> Circulation 103: 3047-3050, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11425766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11425766</a>] [<a href="https://doi.org/10.1161/hc2501.092494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11425766">Shah et al. (2001)</a> formulated recombinant A-I (Milano) in a complex with a naturally occurring phospholipid. Studies in mice and rabbits with experimental atherosclerosis demonstrated that such complexes rapidly mobilized cholesterol and thereby reduced atherosclerotic plaque burden. The antiatherosclerotic effects occurred in animals as rapidly as 48 hours after a single infusion. In humans, <a href="#63" class="mim-tip-reference" title="Nissen, S. E., Tsunoda, T., Tuzcu, E. M., Schoenhagen, P., Cooper, C. J., Yasin, M., Eaton, G. M., Lauer, M. A., Sheldon, W. S., Grines, C. L., Halpern, S., Crowe, T., Blankenship, J. C., Kerensky, R. <strong>Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.</strong> JAMA 290: 2292-2300, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14600188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14600188</a>] [<a href="https://doi.org/10.1001/jama.290.17.2292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14600188">Nissen et al. (2003)</a> found that this complex, administered intravenously for 5 doses at weekly intervals, produced significant regression of coronary atherosclerosis as measured by intravascular ultrasound. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14600188+11425766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 APOLIPOPROTEIN A-I (MARBURG)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912716 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912716;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019500</a>
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<p><a href="#96" class="mim-tip-reference" title="Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A. <strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong> J. Biol. Chem. 257: 501-507, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7082443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7082443</a>]" pmid="7082443">Utermann et al. (1982)</a> described a variant apolipoprotein, which they named apoA-I(Marburg). <a href="#98" class="mim-tip-reference" title="Utermann, G., Steinmetz, A., Paetzold, R., Wilk, J., Feussner, G., Kaffarnik, H., Mueller-Eckhardt, C., Seidel, D., Vogelberg, K.-H., Zimmer, F. <strong>Apolipoprotein AI(Marburg): studies of two kindreds with a mutant of human apolipoprotein AI.</strong> Hum. Genet. 61: 329-337, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6818131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6818131</a>] [<a href="https://doi.org/10.1007/BF00276597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6818131">Utermann et al. (1982)</a> found a frequency of about 1 per 750 persons for apoA-I(Marburg) in West Germany (3 heterozygotes in 2,282 unrelated persons). All 3 heterozygotes had hypertriglyceridemia and subnormal HDL cholesterol (<a href="/entry/619836">619836</a>). Family data from 2 kindreds were consistent with autosomal codominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7082443+6818131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#76" class="mim-tip-reference" title="Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W., Ogawa, Y., Fielding, C. J., Utermann, G., Haas, J., Steinmetz, A., Menzel, H. J., Assmann, G. <strong>Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.</strong> J. Biol. Chem. 259: 10063-10070, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6432779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6432779</a>]" pmid="6432779">Rall et al. (1984)</a> demonstrated reduced activation of LCAT (<a href="/entry/606967">606967</a>) but no reduction in HDL cholesterol or clinical consequences in association with deletion of lysine-107. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6432779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Breslow, J. L. <strong>Apolipoprotein genetic variation and human disease.</strong> Physiol. Rev. 68: 85-132, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>] [<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892216">Breslow (1988)</a> noted that apoA-I(Marburg) described by <a href="#96" class="mim-tip-reference" title="Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A. <strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong> J. Biol. Chem. 257: 501-507, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7082443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7082443</a>]" pmid="7082443">Utermann et al. (1982)</a> and the lys107del mutation (apoA-I-Munster2A) described by <a href="#76" class="mim-tip-reference" title="Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W., Ogawa, Y., Fielding, C. J., Utermann, G., Haas, J., Steinmetz, A., Menzel, H. J., Assmann, G. <strong>Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.</strong> J. Biol. Chem. 259: 10063-10070, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6432779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6432779</a>]" pmid="6432779">Rall et al. (1984)</a> are likely identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7082443+2892216+6432779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 APOLIPOPROTEIN A-I (MUNSTER4)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912717;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912717?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019501 OR RCV001851951 OR RCV002467499 OR RCV005049381" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019501, RCV001851951, RCV002467499, RCV005049381" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019501...</a>
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<p><a href="#93" class="mim-tip-reference" title="Strobl, W., Jabs, H.-U., Hayde, M., Holzinger, T., Assmann, G., Widhalm, K. <strong>Apolipoprotein A-I (glu198-to-lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia.</strong> Pediat. Res. 24: 222-228, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3141894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3141894</a>] [<a href="https://doi.org/10.1203/00006450-198808000-00017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3141894">Strobl et al. (1988)</a> described the third case of a glu198-to-lys mutation in the APOA1 gene and the first instance in which a family study was performed, with identification of 5 other persons with the variant in heterozygous form (<a href="/entry/619836">619836</a>). The mutation appeared to bear no relationship to premature atherosclerosis. Despite the fact that the mutation occurred in a part of the molecule thought to be involved in lipid binding, it bound almost exclusively to HDL as does normal apoA-I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3141894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Breslow, J. L. <strong>Apolipoprotein genetic variation and human disease.</strong> Physiol. Rev. 68: 85-132, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>] [<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892216">Breslow (1988)</a> noted that this mutation is designated apoA-I(Munster4). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 APOLIPOPROTEIN A-I (NORWAY)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912718 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912718;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912718?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>An apoA-I mutant with electrophoretic mobility similar to that of glu198-to-lys (<a href="#0003">107680.0003</a>) was found to have a glu136-to-lys substitution (<a href="#86" class="mim-tip-reference" title="Schamaun, O., Olaisen, B., Gedde-Dahl, T., Jr., Teisberg, P. <strong>Genetic studies of an apoA-I lipoprotein variant.</strong> Hum. Genet. 64: 380-383, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6413385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6413385</a>] [<a href="https://doi.org/10.1007/BF00292371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6413385">Schamaun et al., 1983</a>; <a href="#77" class="mim-tip-reference" title="Rall, S. C., Weisgraber, K. H., Mahley, R. W., Ehnholm, C., Schamaun, O., Olaisen, B., Blomhoff, J. P., Teisberg, P. <strong>Identification of homozygosity for a human apolipoprotein A-I variant.</strong> J. Lipid Res. 27: 436-441, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3723016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3723016</a>]" pmid="3723016">Rall et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6413385+3723016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Breslow, J. L. <strong>Apolipoprotein genetic variation and human disease.</strong> Physiol. Rev. 68: 85-132, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>] [<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892216">Breslow (1988)</a> noted that this mutation is designated apoA-I(Norway). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912719 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912719;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019499 OR RCV002513123" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019499, RCV002513123" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019499...</a>
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<p><a href="#96" class="mim-tip-reference" title="Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A. <strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong> J. Biol. Chem. 257: 501-507, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7082443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7082443</a>]" pmid="7082443">Utermann et al. (1982)</a> described this apoA-I variant, which they designated apoA-I(Giessen). <a href="#97" class="mim-tip-reference" title="Utermann, G., Haas, J., Steinmetz, A., Paetzold, R., Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W. <strong>Apolipoprotein A-I(Giessen) (pro143-to-arg): a mutant that is defective in activating lecithin:cholesterol acyltransferase.</strong> Europ. J. Biochem. 144: 325-331, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6489332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6489332</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1984.tb08467.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6489332">Utermann et al. (1984)</a> observed defective activation of LCAT (<a href="/entry/606967">606967</a>) by the Giessen variant of apoA-I. Individuals with the P143R variant in the APOA1 gene have mildly reduced levels of HDL and decreased levels of the mutant protein (<a href="/entry/619836">619836</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7082443+6489332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 APOLIPOPROTEIN A-I (MUNSTER3C)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912720 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912720;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912720?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019503" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019503" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019503</a>
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<p>Using a simple and rapid method for the structural analysis of mutant apolipoproteins, <a href="#101" class="mim-tip-reference" title="von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., Assmann, G., Welp, S., Roetrige, A., Kock, R. <strong>Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.</strong> J. Clin. Invest. 84: 1722-1730, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512329</a>] [<a href="https://doi.org/10.1172/JCI114355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512329">von Eckardstein et al. (1989)</a> demonstrated 3 variants in the mature apolipoprotein A-I polypeptide of 243 amino acids: pro3-to-arg (P3R), pro4-to-arg (<a href="#0008">107680.0008</a>), and pro165-to-arg (<a href="#0009">107680.0009</a>). All the variant carriers were heterozygous for the mutant. In the case of the pro3-to-arg mutant, the variant proapoA-I was present in increased concentrations as compared to the normal proapoA-I, suggesting that the interspecies-conserved proline residue in position 3 of mature apoA-I is functionally important for the enzymatic conversion of the proprotein to the mature protein. The pro165-to-arg variant was associated with lower levels of apoA-I and HDL cholesterol. The variant protein accounted for only 30% of the total apoA-I in plasma instead of the expected 50% (<a href="/entry/619836">619836</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2512329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Breslow, J. L. <strong>Apolipoprotein genetic variation and human disease.</strong> Physiol. Rev. 68: 85-132, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>] [<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892216">Breslow (1988)</a> noted that the P3R mutation is designated apoA-I(Munster3C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0008 APOLIPOPROTEIN A-I (MUNSTER3B)</strong>
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APOA1, PRO4ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912721;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912721?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019504 OR RCV001851952 OR RCV005042066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019504, RCV001851952, RCV005042066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019504...</a>
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<p>See <a href="#0007">107680.0007</a> and <a href="#101" class="mim-tip-reference" title="von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., Assmann, G., Welp, S., Roetrige, A., Kock, R. <strong>Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.</strong> J. Clin. Invest. 84: 1722-1730, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512329</a>] [<a href="https://doi.org/10.1172/JCI114355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512329">von Eckardstein et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2512329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Breslow, J. L. <strong>Apolipoprotein genetic variation and human disease.</strong> Physiol. Rev. 68: 85-132, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>] [<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892216">Breslow (1988)</a> noted that the P4R mutation is designated apoA-I(Munster3B). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 APOLIPOPROTEIN A-I DEFICIENCY</strong>
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APOA1, PRO165ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912722 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912722;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912722?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019505 OR RCV005089279" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019505, RCV005089279" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019505...</a>
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<p><a href="#101" class="mim-tip-reference" title="von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., Assmann, G., Welp, S., Roetrige, A., Kock, R. <strong>Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.</strong> J. Clin. Invest. 84: 1722-1730, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512329</a>] [<a href="https://doi.org/10.1172/JCI114355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512329">Von Eckardstein et al. (1989)</a> found that the pro165-to-arg (P165R) variant in the APOA1 gene was associated with lower levels of apoA-I and HDL cholesterol. The variant protein accounted for only 30% of the total apoA-I in plasma instead of the expected 50%. See <a href="#0007">107680.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2512329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28931574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28931574;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28931574?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28931574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28931574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019506 OR RCV003556050 OR RCV005003396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019506, RCV003556050, RCV005003396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019506...</a>
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<p>In a family of English-Scottish-Irish extraction first reported by <a href="#99" class="mim-tip-reference" title="Van Allen, M. W., Frohlich, J. A., Davis, J. R. <strong>Inherited predisposition to generalized amyloidosis: clinical and pathological study of a family with neuropathy, nephropathy and peptic ulcer.</strong> Neurology 19: 10-25, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4304452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4304452</a>] [<a href="https://doi.org/10.1212/wnl.19.1.10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4304452">Van Allen et al. (1969)</a> with amyloidosis referred to as the Iowa or Van Allen type (AMYLD3; <a href="/entry/620657">620657</a>), Nichols et al. (<a href="#59" class="mim-tip-reference" title="Nichols, W. C., Dwulet, F. E., Benson, M. D. <strong>Apolipoprotein AI in Iowa type hereditary amyloidosis (FAP type IV). (Abstract)</strong> Clin. Res. 35: 595A only, 1987."None>1987</a>, <a href="#60" class="mim-tip-reference" title="Nichols, W. C., Dwulet, F. E., Liepnieks, J., Benson, M. D. <strong>Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.</strong> Biochem. Biophys. Res. Commun. 156: 762-768, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3142462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3142462</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80909-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3142462">1988</a>) found that apolipoprotein A-I is a major constituent of the amyloid. In this condition, the apolipoprotein A-I protein was found to contain a substitution of glycine by arginine at position 26 (G26R). The mutation of arg for gly26 predicted a guanine-to-cytosine substitution as the nucleotide corresponding to the first base of codon 26 (GGC-to-CGC) of the APOA1 gene. Using PCR and direct sequencing, Nichols et al. (<a href="#61" class="mim-tip-reference" title="Nichols, W. C., Gregg, R. E., Brewer, H. B., Benson, M. D. <strong>Characterization of the gene for familial amyloidotic polyneuropathy (FAP III/Iowa) and genotyping by allele-specific PCR. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A210 only, 1989."None>1989</a>, <a href="#62" class="mim-tip-reference" title="Nichols, W. C., Gregg, R. E., Brewer, H. B., Jr., Benson, M. D. <strong>A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.</strong> Genomics 8: 318-323, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2123470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2123470</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90288-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2123470">1990</a>) confirmed the prediction on DNA extracted from paraffin-embedded tissues from 3 members of the kindred who died in the 1960s with amyloid neuropathy. Since the mutation does not alter the restriction pattern of the APOA1 gene, they used PCR with an arg26 allele-specific primer for detection of asymptomatic gene carriers. They demonstrated inheritance of the APOA1 variant through 3 generations of the Iowa kindred and confirmed its association with the development of systemic amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2123470+3142462+4304452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019509 OR RCV000019510" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019509, RCV000019510" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019509...</a>
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<p>Norum et al. (<a href="#66" class="mim-tip-reference" title="Norum, R. A., Lakier, J. B., Goldstein, S., Rutt, W. M., Morales, A., Block, W. D. <strong>High density lipoprotein deficiency and coronary artery disease in sisters: an autosomal recessive trait. (Abstract)</strong> Clin. Res. 28: 471A only, 1980."None>1980</a>, <a href="#65" class="mim-tip-reference" title="Norum, R. A., Lakier, J. B., Goldstein, S., Angel, A., Goldberg, R. B., Block, W. D., Noffze, D. K., Dolphin, P. J., Edelglass, J., Bogorad, D. D., Alaupovic, P. <strong>Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease.</strong> New Eng. J. Med. 306: 1513-1519, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078608</a>] [<a href="https://doi.org/10.1056/NEJM198206243062503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7078608">1982</a>) studied 2 sisters, aged 30 and 25, with very low HDL and heart failure from coronary artery disease. Both had arcus cornealis, xanthelasmata and extensive infiltrative xanthoma of the neck and antecubital fossa, resembling somewhat the changes of pseudoxanthoma elasticum. The skin histology showed collections of lipid-laden histiocytes. Plasma cholesterol was 177 and 135 mg/dl; HDL cholesterol was 4 and 7 mg/dl. Only traces of apoprotein A-I were detected in whole plasma; in addition, apoprotein C-III was not detectable. The parents and children of the 2 women had low HDL cholesterol and apoA-I levels consistent with heterozygosity. Low levels of HDL cholesterol concentration have been associated with an increased frequency of coronary artery disease even when HDL is no less than 50% of normal (<a href="#55" class="mim-tip-reference" title="Miller, C. J., Miller, N. E. <strong>Plasma high density lipoprotein concentration and development of ischaemic heart disease.</strong> Lancet 305: 16-19, 1975. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/46338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">46338</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)92376-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="46338">Miller and Miller, 1975</a>). Heart failure without myocardial infarction is unusual in coronary atherosclerosis, especially in young women, suggesting small vessel disease. The patient of <a href="#29" class="mim-tip-reference" title="Gustafson, A., McConathy, W. J., Alaupovic, P., Curry, M. D., Persson, B. <strong>Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.</strong> Scand. J. Clin. Lab. Invest. 39: 377-387, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/230573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">230573</a>] [<a href="https://doi.org/10.3109/00365517909106122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="230573">Gustafson et al. (1979)</a>, although clinically similar, differed by having high apoC-III rather than absent apoC-III. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=46338+230573+7078608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Karathanasis, S. K., McPherson, J., Zannis, V. I., Breslow, J. L. <strong>Linkage of human apolipoproteins A-I and C-III genes.</strong> Nature 304: 371-373, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308458</a>] [<a href="https://doi.org/10.1038/304371a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308458">Karathanasis et al. (1983)</a> showed that the probands in the family of <a href="#65" class="mim-tip-reference" title="Norum, R. A., Lakier, J. B., Goldstein, S., Angel, A., Goldberg, R. B., Block, W. D., Noffze, D. K., Dolphin, P. J., Edelglass, J., Bogorad, D. D., Alaupovic, P. <strong>Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease.</strong> New Eng. J. Med. 306: 1513-1519, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078608</a>] [<a href="https://doi.org/10.1056/NEJM198206243062503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7078608">Norum et al. (1982)</a> were both homozygous for a defect in the apoA-I locus, namely, an insertion in an intron. They could identify heterozygotes unequivocally. The parents had the same gene defect; they were not known to be related but both had ancestors of Scottish extraction who lived in the Appalachian mountain region of southeastern Kentucky. When McKusick saw the 2 sisters in 1983, he was impressed that the xanthomatosis of the neck and antecubital fossae simulated the changes of PXE (<a href="/entry/177850">177850</a>, <a href="/entry/264800">264800</a>). The obligatory heterozygotes may be at increased risk of atherosclerosis. <a href="#64" class="mim-tip-reference" title="Norum, R. A., Alaupovic, P. <strong>Linkage between loci for apolipoproteins A-I (APOA1) and C-III (APOC3). (Abstract)</strong> Cytogenet. Cell Genet. 37: 556 only, 1984."None>Norum and Alaupovic (1984)</a> pointed out that although the only lesion demonstrated is the insertion in the apoA-I gene, the finding of reduced concentrations of both A-I and C-III in heterozygotes suggests that the apoC-III deficiency in the homozygotes is not secondary but due either to mutation also in the apoC-III gene or to an effect of the apoA-I gene on the cis apoC-III gene. Either hypothesis suggests linkage of the 2 loci. <a href="#67" class="mim-tip-reference" title="Norum, R. A. <strong>Personal Communication.</strong> Detroit, Mich. 8/26/1983."None>Norum (1983)</a> suggested that the gene for apolipoprotein C-II may be in the same cluster on chromosome 11 because it, like C-III, was severely deficient in the 2 sisters. <a href="#39" class="mim-tip-reference" title="Karathanasis, S. K., McPherson, J., Zannis, V. I., Breslow, J. L. <strong>Linkage of human apolipoproteins A-I and C-III genes.</strong> Nature 304: 371-373, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308458</a>] [<a href="https://doi.org/10.1038/304371a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308458">Karathanasis et al. (1983)</a> studied the genomic sequences flanking the APOA1 gene and found that the APOC3 gene (see <a href="/entry/107720">107720</a>) lies about 2.6 kb downstream of the 3-prime end of the APOA1 gene. They also showed that the 2 genes are 'convergently transcribed' and that the polymorphism reported by <a href="#78" class="mim-tip-reference" title="Rees, A., Shoulders, C. C., Stocks, J., Galton, D. J., Baralle, F. E. <strong>DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.</strong> Lancet 321: 444-446, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6131168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6131168</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)91440-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6131168">Rees et al. (1983)</a> to be associated with hypertriglyceridemia may be due to a single basepair substitution in the 3-prime-noncoding region of apoC-III mRNA. <a href="#21" class="mim-tip-reference" title="Forte, T. M., Nichols, A. V., Krauss, R. M., Norum, R. A. <strong>Familial apolipoprotein A-I and apolipoprotein C-III deficiency: subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis.</strong> J. Clin. Invest. 74: 1601-1613, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6501564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6501564</a>] [<a href="https://doi.org/10.1172/JCI111576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6501564">Forte et al. (1984)</a> cited evidence that the 6.5-kb insert in the APOA1 gene is deleted from its normal position in the promoter region for the closely linked APOC3 gene. <a href="#74" class="mim-tip-reference" title="Protter, A. A., Levy-Wilson, B., Miller, J., Bencen, G., White, T., Seilhamer, J. J. <strong>Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the Apo AI and Apo CIII genes.</strong> DNA 3: 449-456, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6439535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6439535</a>] [<a href="https://doi.org/10.1089/dna.1.1984.3.449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6439535">Protter et al. (1984)</a> isolated and characterized the APOC3 gene. The coding sequence was found to be interrupted by 3 introns. The authors compared it with the APOA1 gene and sequenced the DNA lying between the 2 genes. <a href="#41" class="mim-tip-reference" title="Karathanasis, S. K., Oettgen, P., Haddad, I. A., Antonarakis, S. E. <strong>Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).</strong> Proc. Nat. Acad. Sci. 83: 8457-8461, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3095836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3095836</a>] [<a href="https://doi.org/10.1073/pnas.83.22.8457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3095836">Karathanasis et al. (1986)</a> studied the restriction pattern of the APOA4 gene in the sisters with combined apoA-I and apoC-III deficiency. Although apoA-IV had not been demonstrated in the plasma of these patients, the relatively high levels of plasma LCAT activity (40% of normal) and the possible involvement of apoA-IV in LCAT activation suggested that the APOA4 gene of these patients is functionally normal. <a href="#38" class="mim-tip-reference" title="Karathanasis, S. K., Ferris, E., Haddad, I. A. <strong>DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.</strong> Proc. Nat. Acad. Sci. 84: 7198-7202, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3118360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3118360</a>] [<a href="https://doi.org/10.1073/pnas.84.20.7198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3118360">Karathanasis et al. (1987)</a> demonstrated that these patients had a rearrangement in the form of an inversion containing portions of the 3-prime ends of the APOA1 and APOC3 genes, including the DNA between these genes. The breakpoints were located within the fourth exon of the APOA1 gene and the first intron of the APOC3 gene. The fusion gene was expressed as a fusion mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6131168+6439535+6501564+6308458+7078608+3095836+3118360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 APOLIPOPROTEIN A-I, ABSENCE OF, DUE TO DELETION OF APOA1/APOC3/APOA4 GENE COMPLEX</strong>
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<p><a href="#84" class="mim-tip-reference" title="Schaefer, E. J., Heaton, W. H., Wetzel, M. G., Brewer, H. B., Jr. <strong>Plasma apolipoprotein A-I, absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.</strong> Arteriosclerosis 2: 16-26, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6800349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6800349</a>] [<a href="https://doi.org/10.1161/01.atv.2.1.16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6800349">Schaefer et al. (1982)</a> studied the plasma lipids of a middle-aged woman who died following coronary artery bypass grafting for atherosclerotic narrowing of multiple arteries. She had markedly reduced high density lipoprotein, no detectable apolipoprotein A-I, normal A-II, and moderately reduced apolipoproteins B and C (see <a href="/entry/620058">620058</a>). Both of her children, all 6 of her living sibs, and both parents had reduced apolipoprotein A-I and HDL levels and normal apolipoprotein A-II. Three of the sibs and their mother had coronary disease. The proband had corneal clouding due to diffuse lipid deposits in the epithelial cells; none of the heterozygotes had this finding. The condition in this family differs from Tangier disease (<a href="/entry/205400">205400</a>; analphalipoproteinemia) in the complete absence of apolipoprotein A-I and normal levels of A-II in the homozygote. Heterozygotes in this condition have reduced A-I only, whereas Tangier heterozygotes have reduced A-I and A-II. Consanguinity in this family, while likely on the basis of geographic isolation, was not proved. In the family reported by <a href="#84" class="mim-tip-reference" title="Schaefer, E. J., Heaton, W. H., Wetzel, M. G., Brewer, H. B., Jr. <strong>Plasma apolipoprotein A-I, absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.</strong> Arteriosclerosis 2: 16-26, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6800349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6800349</a>] [<a href="https://doi.org/10.1161/01.atv.2.1.16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6800349">Schaefer et al. (1982)</a>, <a href="#70" class="mim-tip-reference" title="Ordovas, J. M., Cassidy, D. K., Civeira, F., Bisgaier, C. L., Schaefer, E. J. <strong>Familial apolipoprotein A-I, C-III and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11.</strong> J. Biol. Chem. 264: 16339-16342, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2506176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2506176</a>]" pmid="2506176">Ordovas et al. (1989)</a> demonstrated that all of the APOA1/APOC3/APOA4 gene complex was deleted from a point about 3.1 kb 5-prime to the APOA1 gene to a point 3-prime to the APOA4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6800349+2506176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28929476 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28929476;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28929476?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28929476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28929476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019513 OR RCV001508677 OR RCV005003397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019513, RCV001508677, RCV005003397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019513...</a>
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<p><a href="#46" class="mim-tip-reference" title="Ladias, J. A. A., Kwiterovich, P. O., Jr., Smith, H. H., Karathanasis, S. K., Antonarakis, S. E. <strong>Apolipoprotein A1 Baltimore (arg(10)-to-leu), a new APOA1 variant.</strong> Hum. Genet. 84: 439-445, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2108924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2108924</a>] [<a href="https://doi.org/10.1007/BF00195816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2108924">Ladias et al. (1990)</a> detected this variant, apoA-I (Baltimore), in a man with hypoalphalipoproteinemia who was under study for coronary artery disease. A G-to-T substitution in codon 34 of the third exon of the APOA1 gene resulted in an arg10-to-leu (R10L) substitution of mature apoA-I. (ApoA-I is synthesized in the liver and small intestine as a 267-residue preproapolipoprotein. The presegment, 18 amino acid residues long, is cleaved at the time of translation by a signal peptidase. The resulting proapoA-I contains a hexapeptide prosegment covalently linked to the NH(2) terminus of mature apoA-I; it is secreted into plasma and lymph and undergoes extracellular posttranslational cleavage to the mature 243-residue apoA-I.) The mutation changed a CG dinucleotide to CT and therefore was an exception to the CG-to-TG mutation rule, in which methylation/deamination of the C in the CpG dinucleotide results in a C-to-T substitution. The proband was heterozygous for the mutation. The variant was found in 8 members of the family but only 3 were affected (<a href="/entry/619836">619836</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2108924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555836" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555836" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555836</a>
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<p><a href="#24" class="mim-tip-reference" title="Funke, H., von Eckardstein, A., Pritchard, P. H., Karas, M., Albers, J. J., Assmann, G. <strong>A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin:cholesterol-acyltransferase deficiency, and corneal opacities.</strong> J. Clin. Invest. 87: 371-376, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898657</a>] [<a href="https://doi.org/10.1172/JCI114997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1898657">Funke et al. (1991)</a> studied an otherwise healthy 42-year-old man for massive corneal clouding that resembled that described in patients with fish-eye disease. There was no history in the patient or in his family of precocious coronary artery disease and no evidence of consanguinity; the parents came from different parts of Germany. <a href="#24" class="mim-tip-reference" title="Funke, H., von Eckardstein, A., Pritchard, P. H., Karas, M., Albers, J. J., Assmann, G. <strong>A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin:cholesterol-acyltransferase deficiency, and corneal opacities.</strong> J. Clin. Invest. 87: 371-376, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898657</a>] [<a href="https://doi.org/10.1172/JCI114997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1898657">Funke et al. (1991)</a> identified a homozygous base deletion in the fourth exon of the APOA1 gene as the basic defect responsible for complete absence of HDL from the plasma and corneal opacities (<a href="/entry/618463">618463</a>). Heterozygous carriers of the base deletion showed approximately half-normal HDL cholesterol concentrations. A guanine residue from codon 202 was deleted, leading to frameshift and premature termination at amino acid 229. The proband's mother and all 3 of his children were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912723;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555837" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555837" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555837</a>
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<p>In a Japanese female patient with deficiency of APOA1 and premature atherosclerosis (<a href="/entry/618463">618463</a>), <a href="#54" class="mim-tip-reference" title="Matsunaga, T., Hiasa, Y., Yanagi, H., Maeda, T., Hattori, N., Yamakawa, K., Yamanouchi, Y., Tanaka, I., Obara, T., Hamaguchi, H. <strong>Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.</strong> Proc. Nat. Acad. Sci. 88: 2793-2797, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1901417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1901417</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1901417">Matsunaga et al. (1991)</a> demonstrated homozygosity for a nonsense mutation at codon 84 in exon 4 of the APOA1 gene: CAG-to-TAG, gln-to-stop. The patient was also homozygous for another mutation, ala37-to-thr (GCC-to-ACC) in exon 3; this mutation represented a polymorphism because it was found in other persons with normal levels of APOA1 and high density lipoprotein cholesterol. The patient's parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1901417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912724 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912724;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555838" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555838" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555838</a>
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<p>In affected members of an English family with autosomal dominant nonneuropathic systemic amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>), <a href="#91" class="mim-tip-reference" title="Soutar, A. K., Hawkins, P. N., Vigushin, D. M., Tennent, G. A., Booth, S. E., Hutton, T., Nguyen, O., Totty, N. F., Feest, T. G., Hsuan, J. J., Pepys, M. B. <strong>Apolipoprotein AI mutation arg-60 causes autosomal dominant amyloidosis.</strong> Proc. Nat. Acad. Sci. 89: 7389-7393, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1502149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1502149</a>] [<a href="https://doi.org/10.1073/pnas.89.16.7389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1502149">Soutar et al. (1992)</a> identified a heterozygous T-to-G transversion in the APOA1 gene that resulted in a leu60-to-arg (L60R) substitution. <a href="#91" class="mim-tip-reference" title="Soutar, A. K., Hawkins, P. N., Vigushin, D. M., Tennent, G. A., Booth, S. E., Hutton, T., Nguyen, O., Totty, N. F., Feest, T. G., Hsuan, J. J., Pepys, M. B. <strong>Apolipoprotein AI mutation arg-60 causes autosomal dominant amyloidosis.</strong> Proc. Nat. Acad. Sci. 89: 7389-7393, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1502149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1502149</a>] [<a href="https://doi.org/10.1073/pnas.89.16.7389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1502149">Soutar et al. (1992)</a> suggested that the systemic nonneuropathic form seen in their family is the same as the Iowa form (see <a href="#0010">107680.0010</a>), which in turn is the same as the Ostertag type. Indeed, the phenotype appears to be different from that originally described by <a href="#99" class="mim-tip-reference" title="Van Allen, M. W., Frohlich, J. A., Davis, J. R. <strong>Inherited predisposition to generalized amyloidosis: clinical and pathological study of a family with neuropathy, nephropathy and peptic ulcer.</strong> Neurology 19: 10-25, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4304452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4304452</a>] [<a href="https://doi.org/10.1212/wnl.19.1.10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4304452">Van Allen et al. (1969)</a>; in the Iowa family, neuropathy dominated the clinical picture early in the course and nephropathy late in the course. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1502149+4304452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906570 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906570;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002514117 OR RCV004555839" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002514117, RCV004555839" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002514117...</a>
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<p><a href="#58" class="mim-tip-reference" title="Ng, D. S., Leiter, L. A., Vezina, C., Connelly, P. W., Hegele, R. A. <strong>Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.</strong> J. Clin. Invest. 93: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282791</a>] [<a href="https://doi.org/10.1172/JCI116949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282791">Ng et al. (1994)</a> discovered a novel mutation causing analphalipoprotein A-I deficiency (<a href="/entry/618463">618463</a>) in a Canadian kindred. The 34-year-old Caucasian proposita, the product of a consanguineous marriage, initially presented at the age of 30 years because of xanthelasmata. In the same year, the patient was diagnosed with bilateral cataracts requiring cataract extraction in the right eye. She also had bilateral subretinal lipid deposition with exudative proliferative retinopathy complicated by bilateral retinal detachments, which were treated surgically. She had a longstanding history of mild imbalance, i.e., unsteadiness. Examination showed mildly thickened Achilles tendons and mild midline cerebellar ataxia. One sister had had a mild myocardial infarction at age 34. Another sister with angina had cerebellar ataxia. High density lipoprotein cholesterol was very low and apoA-I was undetectable. Genomic DNA sequencing of the APOA1 gene identified homozygosity for a nonsense mutation at codon -2, which <a href="#58" class="mim-tip-reference" title="Ng, D. S., Leiter, L. A., Vezina, C., Connelly, P. W., Hegele, R. A. <strong>Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.</strong> J. Clin. Invest. 93: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282791</a>] [<a href="https://doi.org/10.1172/JCI116949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282791">Ng et al. (1994)</a> designated as Q(-2)X. The mutation was a C-to-T transition in exon 3, which transformed a codon at position -2 relative to the first amino acid of circulating mature apoA-I. The normal sequence at this position encodes glutamine, but the mutated codon encoded premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs753348565 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753348565;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs753348565?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs753348565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs753348565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000599012 OR RCV004594084" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000599012, RCV004594084" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000599012...</a>
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<p>In 3 members of a Japanese family with primary intermediate hypoalphalipoproteinemia-2 (<a href="/entry/619836">619836</a>), <a href="#57" class="mim-tip-reference" title="Nakata, K., Kobayashi, K., Yanagi, H., Shimakura, Y., Tsuchiya, S., Arinami, T., Hamaguchi, H. <strong>Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.</strong> Biochem. Biophys. Res. Commun. 196: 950-955, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240372</a>] [<a href="https://doi.org/10.1006/bbrc.1993.2341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240372">Nakata et al. (1993)</a> identified heterozygosity for an insertion of a single C in the run of 7 cytosines between codons 3 and 5 of the mature sequence of the APOA1 gene. The variant, designated APOA1-Tsukuba, resulted in a frameshift and a premature stop at codon 34. The proband, her mother, and maternal aunt had average plasma HDL-C and apoA-I levels of 50% and 53%, respectively, of those of controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912725;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555840" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555840" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555840</a>
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<p><a href="#81" class="mim-tip-reference" title="Romling, R., von Eckardstein, A., Funke, H., Motti, C., Fragiacomo, G. C., Noseda, G., Assmann, G. <strong>A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.</strong> Arterioscler. Thromb. 14: 1915-1922, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981179</a>] [<a href="https://doi.org/10.1161/01.atv.14.12.1915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981179">Romling et al. (1994)</a> found homozygosity for a gln32-to-ter (Q32X) mutation in the APOA1 gene in a 31-year-old woman who presented with no signs of coronary artery or other atherosclerosis. She came from a large Sicilian family with no apparent increased prevalence of myocardial infarction. Among 8 sibs of the proband's heterozygous parents, 7 persons, aged 57 to 73, were alive and had no symptoms of atherosclerotic disease. The parents were first cousins. During her first pregnancy at age 22, the homozygous proband developed bilateral periorbital xanthelasmas, which did not progress after delivery. She had smoked 10 to 12 cigarettes per day since the age of 18 years. Heterozygotes showed half-normal plasma concentrations of HDL cholesterol and apoA-I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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APOA1, 12-BP DEL AND 2-BP INS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2134231440 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2134231440;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2134231440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2134231440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555841" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555841" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555841</a>
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<p>In affected members of a Spanish family with autosomal dominant nonneuropathic hereditary amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>), <a href="#5" class="mim-tip-reference" title="Booth, D. R., Tan, S-Y., Booth, S. E., Tennent, G. A., Hutchinson, W. L., Hsuan, J. J., Totty, N. F., Truong, O., Soutar, A. K., Hawkins, P. N., Bruguera, M., Caballeria, J., Sole, M., Campistol, J. M., Pepys, M. B. <strong>Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein A1 gene.</strong> J. Clin. Invest. 97: 2714-2721, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8675681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8675681</a>] [<a href="https://doi.org/10.1172/JCI118725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8675681">Booth et al. (1996)</a> identified a novel heterozygous deletion/insertion mutation in exon 4 of the APOA1 gene. The mutation encoded loss of residues 60 through 71 of the normal mature APOA1 and insertion at that position of 2 new residues, valine and threonine. Affected individuals had a unique hepatic presentation and death from liver failure usually by the sixth decade. Affected individuals had both normal APOA1 and variant molecules bearing 1 extra positive charge, as predicted from the DNA sequence. The amyloid fibrils were composed exclusively of N-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wildtype sequence. Amyloid fibrils derived from the other 3 known amyloidogenic APOA1 variants (<a href="#0010">107680.0010</a>, <a href="#0016">107680.0016</a>, and <a href="#0021">107680.0021</a>) are composed of similar N-terminal fragments. All known amyloidogenic APOA1 variants carry 1 extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this was the first deletion mutation to be described in association with hereditary amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8675681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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APOA1, TRP50ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912726;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003556051 OR RCV004555842" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003556051, RCV004555842" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003556051...</a>
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<p>In a man, the child of Ashkenazi Jewish parents, with hereditary nonneuropathic amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>), <a href="#4" class="mim-tip-reference" title="Booth, D. R., Tan, S. Y., Booth, S. E., Hsuan, J. J., Totty, N. F., Nguyen, O., Hutton, T., Vigushin, D. M., Tennent, G. A., Hutchinson, W. L. <strong>A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.</strong> Quart. J. Med. 88: 695-702, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493166</a>]" pmid="7493166">Booth et al. (1995)</a> detected a heterozygous T-to-C transition in the APOA1 gene that resulted in a trp50-to-arg amino acid substitution (W50R). The man's father had died at the age of 45 years with massive hepatic and renal amyloidosis confirmed histologically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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APOA1, VAL156GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912727 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912727;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555843" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555843" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555843</a>
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<p>In a 67-year-old Japanese male with corneal opacities, coronary artery disease, and less than 10% of normal APOA1 and HDL cholesterol levels (<a href="/entry/618463">618463</a>), <a href="#37" class="mim-tip-reference" title="Huang, W., Sasaki, J., Matsunaga, A., Nanimatsu, H., Moriyama, K., Han, H., Kugi, M., Koga, T., Yamaguchi, K., Arakawa, K. <strong>A novel homozygous missense mutation in the Apo A-I gene with Apo A-I deficiency.</strong> Arterioscler. Thromb. Vasc. Biol. 18: 389-396, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9514407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9514407</a>] [<a href="https://doi.org/10.1161/01.atv.18.3.389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9514407">Huang et al. (1998)</a> found a homozygous mutation in the APOA1 gene. A T-to-A substitution at nucleotide 1762 in exon 4 resulted in a val-to-glu substitution at codon 156. Lecithin:cholesterol acyltransferase activity and cholesterol esterification were less than 40% of normal control values. The proband's elder brother, also homozygous for the mutation, had reduced APOA1 and HDL levels but no clinical evidence of coronary artery disease. The heterozygous son of the proband showed nearly 60% of normal APOA1 and normal HDL cholesterol levels. The position of this and other mutations led the authors to conclude that residues 143-164 are important in APOA1 function, particularly LCAT activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9514407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>This mutation has been designated apolipoprotein A-I (Oita).</p>
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<strong>.0023 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
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APOA1, IVS2, G-C, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2134233729 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2134233729;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2134233729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2134233729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019523" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019523" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019523</a>
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<p>One of 4 mutations in the APOA1 gene found by <a href="#104" class="mim-tip-reference" title="Yamakawa-Kobayashi, K., Yanagi, H., Fukayama, H., Hirano, C., Shimakura, Y., Yamamoto, N., Arinami, T., Tsuchiya, S., Hamaguchi, H. <strong>Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.</strong> Hum. Molec. Genet. 8: 331-336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931341</a>] [<a href="https://doi.org/10.1093/hmg/8.2.331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931341">Yamakawa-Kobayashi et al. (1999)</a> as the cause of primary hypoalphalipoproteinemia (<a href="/entry/618463">618463</a>) was a donor splice site mutation in intron 2, changing the canonical +1 from G to C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0024 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28931575 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28931575;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28931575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28931575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555844" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555844" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555844</a>
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<p>In a 60-year-old woman with cutaneous and cardiac amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>), <a href="#33" class="mim-tip-reference" title="Hamidi Asl, L., Liepnieks, J. J., Hamidi Asl, K., Uemichi, T., Moulin, G., Desjoyaux, E., Loire, R., Delpech, M., Grateau, G., Benson, M. D. <strong>Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.</strong> Am. J. Path. 154: 221-227, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9916936[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0002-9440(10)65268-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916936">Hamidi Asl et al. (1999)</a> identified a heterozygous c.1389T-C transition in exon 4 of the APOA1 gene, resulting in a leu90-to-pro (L90P) substitution. The woman was the propositus of a kindred with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade. The predicted L90P substitution was confirmed by structural analysis of amyloid protein isolated from cardiac deposits of amyloid. The subunit protein was composed exclusively of NH2-terminal fragments of the variant APOA1 with the longest ending at residue 94 in the wildtype sequence. Amyloid fibrils derived from 4 previously described APOA1 variants were composed of similar fragments with carboxy-terminal heterogeneity, but contrary to those variants, which all carry one extra positive charge, the leu90-to-pro substitution did not result in any charge modification. The authors considered it unlikely, therefore, that amyloid fibril formation is related to change of charge for a specific residue of the precursor protein. This is in agreement with studies on transthyretin amyloidosis in which no unifying factor, such as change of charge for amino acid residues, has been noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0025 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906571 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906571;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555845" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555845" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555845</a>
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<p>In 6 affected members of an American kindred in which hereditary amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>) showed expression mainly in the skin and heart, <a href="#32" class="mim-tip-reference" title="Hamidi Asl, K.., Liepnieks, J. J., Nakamura, M., Parker, F., Benson, M. D. <strong>A novel apolipoprotein A-1 variant, arg173 to pro, associated with cardiac and cutaneous amyloidosis.</strong> Biochem. Biophys. Res. Commun. 257: 584-588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198255</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198255">Hamidi Asl et al. (1999)</a> identified a heterozygous c.1638G-C transversion in exon 4 of the APOA1 gene, resulting in an arg173-to-pro (R173P) substitution. This mutation, unlike previously described amyloidogenic mutations, was not in the N-terminal fragment which is incorporated into the fibril. The mutation was at the same residue as in APOA1-Milano (<a href="#0001">107680.0001</a>), which has an arg173-to-cys substitution but does not result in amyloid formation. Decreased plasma HDL cholesterol levels in carriers of the arg173-to-pro mutation suggested an increased rate of catabolism, as has been shown for the amyloidogenic gly26-to-arg mutation (<a href="#0010">107680.0010</a>). This suggests that altered metabolism caused by the mutation may be a significant factor in apolipoprotein A-1 fibrillogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0026 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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APOA1, LEU174SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912729 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912729;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555846</a>
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<p>In a 48-year-old man and his uncle from central Italy with systemic nonneuropathic amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>), <a href="#69" class="mim-tip-reference" title="Obici, L., Bellotti, V., Mangione, P., Stoppini, M., Arbustini, E., Verga, L., Zorzoli, I., Anesi, E., Zanotti, G., Campana, C., Vigano, M., Merlini, G. <strong>The new apolipoprotein A-I variant leu174-to-ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.</strong> Am. J. Path. 155: 695-702, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10487826[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0002-9440(10)65167-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10487826">Obici et al. (1999)</a> identified a c.2069T-C in exon 4 of the APOA1 gene, resulting in a leu174-to-ser (L174S) substitution. The mutation was not identified in 3 unaffected sibs of the proband. The proband was affected by amyloid deposits mainly in the heart, requiring transplantation for end-stage congestive heart failure. Plasma levels of high-density lipoprotein and of apoA-I were significantly lower in the patient than in unaffected individuals. The authors stated that this represents the first case of familial apoA-I amyloidosis in which the mutation occurred outside the polypeptide fragment deposited as fibrils. In the 3-dimensional structure of lipid-free apoA-I, composed of 4 identical polypeptide chains, position 174 of one chain was located near position 93 of an adjacent chain, suggesting that the amino acid replacement at position 174 was permissive for a proteolytic split at the C-terminal of val93. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0027 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912730 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912730;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912730?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555847" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555847" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555847</a>
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<p>In an English man (patient 16) with amyloidosis (AMYLD3; <a href="/entry/620657">620657</a>) who presented at age 35 years with renal failure, <a href="#45" class="mim-tip-reference" title="Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N. <strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong> New Eng. J. Med. 346: 1786-1791, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>] [<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050338">Lachmann et al. (2002)</a> identified heterozygosity for an ala175-to-pro (A175P) substitution in apolipoprotein A-1. The man was among 350 patients thought to have systemic amyloidosis of the acquired monoclonal immunoglobulin light-chain (AL) type (see <a href="/entry/254500">254500</a>) because of the absence of family history. In addition to renal failure, he had hoarseness due to laryngeal amyloid deposits, a feature that commonly occurs in localized AL amyloidosis and that had also been reported in patients with mutations disrupting this particular region of the apolipoprotein A-1 molecule (e.g., <a href="#32" class="mim-tip-reference" title="Hamidi Asl, K.., Liepnieks, J. J., Nakamura, M., Parker, F., Benson, M. D. <strong>A novel apolipoprotein A-1 variant, arg173 to pro, associated with cardiac and cutaneous amyloidosis.</strong> Biochem. Biophys. Res. Commun. 257: 584-588, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198255</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198255">Hamidi Asl et al., 1999</a>). He was also reported to have sterility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12050338+10198255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0028 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE</strong>
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APOA1, GLU136TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004555928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004555928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004555928</a>
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<p><a href="#17" class="mim-tip-reference" title="Dastani, Z., Dangoisse, C., Boucher, B., Desbiens, K., Krimbou, L., Dufour, R., Hegele, R. A., Pajukanta, P., Engert, J. C., Genest, J., Marcil, M. <strong>A novel nonsense apolipoprotein A-I mutation (apoA-I-E136X) causes low HDL cholesterol in French Canadians.</strong> Atherosclerosis 185: 127-136, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16023124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16023124</a>] [<a href="https://doi.org/10.1016/j.atherosclerosis.2005.05.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16023124">Dastani et al. (2006)</a> studied 54 unrelated French Canadian patients with severe high-density lipoprotein cholesterol (HDL-C) deficiency (<a href="/entry/619836">619836</a>). Direct sequencing revealed a novel heterozygous APOA1 mutation (E136X) in 3 probands. The mutation was confirmed by MaeI endonuclease digestion. Two of the kindreds were examined (62 subjects) and the E136X mutation was detected in 14 additional individuals. All had a HDL-C level less than the 5th percentile for age- and gender-matched subjects and mild to moderate hypertriglyceridemia. Premature coronary artery disease was documented in probands 1 and 2 and in 3 additional family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16023124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0029 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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APOA1, VAL43LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs373545875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373545875;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs373545875?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs373545875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs373545875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001108697 OR RCV001108698 OR RCV004556829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001108697, RCV001108698, RCV004556829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001108697...</a>
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<p>This variant is classified as a variant of unknown significance because its effect on HDL-C levels has not been confirmed.</p><p>Using whole-exome sequencing in 2,636 Icelanders, <a href="#35" class="mim-tip-reference" title="Helgadottir, A., Gretarsdottir, S., Thorleifsson, G, Hjartarson, E., Sigurdsson, A., Magnusdottir, A., Jonasdottir, A., Kristjansson, H., Sulem, P., Oddsson, A., Sveinbjornsson, G, Steinthorsdottir, V., Rafnar, T., Masson, G., Jonsdottir, I., Olafsson, I., and 17 others. <strong>Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.</strong> Nature Genet. 48: 634-639, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27135400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27135400</a>] [<a href="https://doi.org/10.1038/ng.3561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27135400">Helgadottir et al. (2016)</a> identified sequence variants and subsequently examined the variants for association with non-HDL-C, HDL-C, LDL-C, and triglycerides in up to 119,147 Icelanders. One of the novel variants associated with an increase in HDL-C was a C-to-G transversion in the APOA1 gene (chr11.116837074C-G, GRCh38), resulting in a val43-to-leu (V43L) substitution. In Iceland, the variant was found to have a prevalence of 0.7% and to be associated with an increase of HDL-C levels by 0.17 mmol/l (p = 4.5 x 10(-22)) and a similar decrease of non-HDL-C levels (p = 2.5 x 10(-4)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27135400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Breslow1983" class="mim-tip-reference" title="Breslow, J. L., Karathanasis, S., Norum, R., Zannis, V. I. <strong>APO A-I deficiency and premature atherosclerosis associated with an insertion in the APO A-I gene. (Abstract)</strong> Pediat. Res. 17: 208A only, 1983.">Breslow et al. (1983)</a>; <a href="#Cohen1986" class="mim-tip-reference" title="Cohen, T., Karathanasis, S. K., Kazazian, H. H., Jr., Antonarakis, S. E. <strong>DNA polymorphic sites in the human apoAI-CIII-AIV cluster: Taq I and Ava I.</strong> Nucleic Acids Res. 14: 1924, 1986.">Cohen et al. (1986)</a>; <a href="#Daniels1982" class="mim-tip-reference" title="Daniels, S. R., Bates, S., Lukin, R. R., Benton, C., Third, J., Glueck, C. J. <strong>Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.</strong> Stroke 13: 360-365, 1982.">Daniels et al. (1982)</a>; <a href="#Frossard1986" class="mim-tip-reference" title="Frossard, P. M., Coleman, R., Funke, H., Assman, G. <strong>ApaI RFLP 5.4 kb 5-prime to the human apolipoprotein AI (APO A1) gene.</strong> Nucleic Acids Res. 14: 1922, 1986.">Frossard et al. (1986)</a>; <a href="#Ginsberg1986" class="mim-tip-reference" title="Ginsberg, H. N., Le, N.-A., Goldberg, I. J., Gibson, J. C., Rubinstein, A., Wang-Iverson, P., Norum, R., Brown, W. V. <strong>Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI: evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.</strong> J. Clin. Invest. 78: 1287-1295, 1986.">Ginsberg et al. (1986)</a>; <a href="#Glueck1982" class="mim-tip-reference" title="Glueck, C. J., Daniels, S. R., Bates, S., Benton, C., Tracy, T., Third, J. L. H. C. <strong>Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.</strong> Pediatrics 69: 308-316, 1982.">Glueck et al. (1982)</a>; <a href="#Karathanasis1983" class="mim-tip-reference" title="Karathanasis, S. K., Zannis, V. I., Breslow, J. L. <strong>Isolation and characterization of the human apolipoprotein A-I gene.</strong> Proc. Nat. Acad. Sci. 80: 6147-6151, 1983.">Karathanasis et al. (1983)</a>; <a href="#Karathanasis1983" class="mim-tip-reference" title="Karathanasis, S. K., Zannis, V. I., Breslow, J. L. <strong>Isolation and characterization of the human apolipoprotein A-I gene.</strong> Proc. Nat. Acad. Sci. 80: 6147-6151, 1983.">Karathanasis et al. (1983)</a>; <a href="#Law1984" class="mim-tip-reference" title="Law, S. W., Gray, G., Brewer, H. B., Jr., Sakaguchi, A. Y., Naylor, S. L. <strong>Human apolipoprotein A-I and C-III genes reside in the p11-q13 region of chromosome 11.</strong> Biochem. Biophys. Res. Commun. 118: 934-942, 1984.">Law and
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Brewer (1984)</a>; <a href="#Law1984" class="mim-tip-reference" title="Law, S. W., Gray, G., Brewer, H. B., Jr., Sakaguchi, A. Y., Naylor, S. L. <strong>Human apolipoprotein A-I and C-III genes reside in the p11-q13 region of chromosome 11.</strong> Biochem. Biophys. Res. Commun. 118: 934-942, 1984.">Law et al. (1984)</a>; <a href="#Law1983" class="mim-tip-reference" title="Law, S. W., Owens, J., Fairwell, T., Czarnecki, S., Brewer, H. B., Jr. <strong>cDNA cloning of human apolipoprotein A-I, the major apolipoprotein of high density lipoproteins. (Abstract)</strong> Clin. Res. 31: 290A only, 1983.">Law et al. (1983)</a>; <a href="#O'Donnell1983" class="mim-tip-reference" title="O'Donnell, K. A., Lusis, A. J. <strong>Genetic evidence that the multiple apolipoprotein A-I isoforms are encoded by a common structural gene.</strong> Biochem. Biophys. Res. Commun. 114: 275-281, 1983.">O'Donnell and
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Lusis (1983)</a>; <a href="#Schroeder1987" class="mim-tip-reference" title="Schroeder, W. T., Saunders, G. F. <strong>Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.</strong> Cytogenet. Cell Genet. 44: 231-233, 1987.">Schroeder and Saunders (1987)</a>; <a href="#Stocks1987" class="mim-tip-reference" title="Stocks, J., Paul, H., Galton, D. <strong>Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-I C-III A-IV gene region and hypertriglyceridemia.</strong> Am. J. Hum. Genet. 41: 106-118, 1987.">Stocks et al. (1987)</a>; <a href="#Third1984" class="mim-tip-reference" title="Third, J. L. H. C., Montag, J., Flynn, M., Freidel, J., Laskarzewski, P., Glueck, C. J. <strong>Primary and familial hypoalphalipoproteinemia.</strong> Metabolism 33: 136-146, 1984.">Third et al. (1984)</a>; <a href="#Vergani1981" class="mim-tip-reference" title="Vergani, C., Bettale, G. <strong>Familial hypo-alpha-lipoproteinemia.</strong> Clin. Chim. Acta 114: 45-52, 1981.">Vergani and Bettale (1981)</a>
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Ajees, A. A., Anantharamaiah, G. M., Mishra, V. K., Hussain, M. M., Murthy, H. M. K.
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<strong>Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.</strong>
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Proc. Nat. Acad. Sci. 103: 2126-2131, 2006. Note: Editorial Expression of Concern: Proc. Nat. Acad. Sci. 107: 6551 only, 2010. Retraction: Proc. Nat. Acad. Sci. 115: E6966, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16452169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16452169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16452169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0506877103" target="_blank">Full Text</a>]
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Antonarakis, S. E., Oettgen, P., Chakravarti, A., Halloran, S. L., Hudson, R. R., Feisee, L., Karathanasis, S. K.
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<strong>DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.</strong>
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Hum. Genet. 80: 265-273, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2903847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01790095" target="_blank">Full Text</a>]
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Arinami, T., Hirano, T., Kobayashi, K., Yamanouchi, Y., Hamaguchi, H.
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<strong>Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3-qter).</strong>
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Hum. Genet. 85: 39-40, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1972696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00276323" target="_blank">Full Text</a>]
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Booth, D. R., Tan, S. Y., Booth, S. E., Hsuan, J. J., Totty, N. F., Nguyen, O., Hutton, T., Vigushin, D. M., Tennent, G. A., Hutchinson, W. L.
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<strong>A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.</strong>
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Quart. J. Med. 88: 695-702, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Booth, D. R., Tan, S-Y., Booth, S. E., Tennent, G. A., Hutchinson, W. L., Hsuan, J. J., Totty, N. F., Truong, O., Soutar, A. K., Hawkins, P. N., Bruguera, M., Caballeria, J., Sole, M., Campistol, J. M., Pepys, M. B.
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<strong>Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein A1 gene.</strong>
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J. Clin. Invest. 97: 2714-2721, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8675681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8675681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8675681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI118725" target="_blank">Full Text</a>]
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Botstein, D., White, R., Skolnick, M., Davis, R.
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<strong>Construction of a genetic linkage map in man using restriction fragment length polymorphism.</strong>
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Am. J. Hum. Genet. 32: 314-331, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6247908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6247908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6247908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Breslow, J. L., Karathanasis, S., Norum, R., Zannis, V. I.
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<strong>APO A-I deficiency and premature atherosclerosis associated with an insertion in the APO A-I gene. (Abstract)</strong>
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Pediat. Res. 17: 208A only, 1983.
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<p class="mim-text-font">
|
|
Breslow, J. L., Ross, D., McPherson, J., Williams, H., Kurnit, D., Nussbaum, A. L., Karathanasis, S. K., Zannis, V. I.
|
|
<strong>Isolation and characterization of cDNA clones for human apolipoprotein A-I.</strong>
|
|
Proc. Nat. Acad. Sci. 79: 6861-6865, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6294659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6294659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6294659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.79.22.6861" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Breslow1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Breslow, J. L.
|
|
<strong>Apolipoprotein genetic variation and human disease.</strong>
|
|
Physiol. Rev. 68: 85-132, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1152/physrev.1988.68.1.85" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Brewer1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brewer, H. B., Jr., Fairwell, T., LaRue, A., Ronan, R., Houser, A., Bronzert, T. J.
|
|
<strong>The amino acid sequence of human apoA-I, an apolipoprotein isolated from high density lipoproteins.</strong>
|
|
Biochem. Biophys. Res. Commun. 80: 623-630, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/204308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">204308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=204308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(78)91614-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Bruns1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bruns, G. A. P., Karathanasis, S. K., Breslow, J. L.
|
|
<strong>Human apolipoprotein A-I-C-III gene complex is located on chromosome 11.</strong>
|
|
Arteriosclerosis 4: 97-102, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6422919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6422919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6422919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.4.2.97" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Buraczynska1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buraczynska, M., Hanzlik, J., Grzywa, M.
|
|
<strong>Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.</strong>
|
|
Am. J. Hum. Genet. 37: 1129-1137, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3936351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Cheung1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cheung, P., Kao, F.-T., Law, M. L., Jones, C., Puck, T. T., Chan, L.
|
|
<strong>Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 508-511, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6420790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6420790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6420790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.81.2.508" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Cohen1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cohen, T., Karathanasis, S. K., Kazazian, H. H., Jr., Antonarakis, S. E.
|
|
<strong>DNA polymorphic sites in the human apoAI-CIII-AIV cluster: Taq I and Ava I.</strong>
|
|
Nucleic Acids Res. 14: 1924, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3005989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3005989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3005989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/14.4.1924" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Dallinga-Thie1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dallinga-Thie, G. M., van Linde-Sibenius Trip, M., Rotter, J. I., Cantor, R. M., Bu, X., Lusis, A. J., de Bruin, T. W. A.
|
|
<strong>Complex c genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia: identification of different susceptibility haplotypes.</strong>
|
|
J. Clin. Invest. 99: 953-961, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9062353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9062353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9062353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI119260" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Daniels1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daniels, S. R., Bates, S., Lukin, R. R., Benton, C., Third, J., Glueck, C. J.
|
|
<strong>Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.</strong>
|
|
Stroke 13: 360-365, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7080131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7080131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7080131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.str.13.3.360" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Dastani2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dastani, Z., Dangoisse, C., Boucher, B., Desbiens, K., Krimbou, L., Dufour, R., Hegele, R. A., Pajukanta, P., Engert, J. C., Genest, J., Marcil, M.
|
|
<strong>A novel nonsense apolipoprotein A-I mutation (apoA-I-E136X) causes low HDL cholesterol in French Canadians.</strong>
|
|
Atherosclerosis 185: 127-136, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16023124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16023124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16023124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.atherosclerosis.2005.05.028" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Dayhoff1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dayhoff, M. O.
|
|
<strong>Atlas of Protein Sequence and Structure. Vol. 5. Suppl. 2.</strong>
|
|
Washington, D. C.: National Biomedical Research Foundation (pub.) 1976.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Ferns1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferns, G. A. A., Shelley, C. S., Stocks, J., Rees, A., Paul, H., Baralle, F., Galton, D. J.
|
|
<strong>A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.</strong>
|
|
Hum. Genet. 74: 302-306, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00282553" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Ferns1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferns, G. A. A., Stocks, J., Ritchie, C., Galton, D. J.
|
|
<strong>Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.</strong>
|
|
Lancet 326: 300-303, 1985. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2862468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2862468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2862468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(85)90350-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Forte1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Forte, T. M., Nichols, A. V., Krauss, R. M., Norum, R. A.
|
|
<strong>Familial apolipoprotein A-I and apolipoprotein C-III deficiency: subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis.</strong>
|
|
J. Clin. Invest. 74: 1601-1613, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6501564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6501564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6501564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111576" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Franceschini1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Franceschini, G., Sirtori, C. R., Capurso, A., II, Weisgraber, K. H., Mahley, R. W.
|
|
<strong>A-I (Milano) apoprotein: decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.</strong>
|
|
J. Clin. Invest. 66: 892-900, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7430351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7430351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7430351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI109956" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Frossard1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frossard, P. M., Coleman, R., Funke, H., Assman, G.
|
|
<strong>ApaI RFLP 5.4 kb 5-prime to the human apolipoprotein AI (APO A1) gene.</strong>
|
|
Nucleic Acids Res. 14: 1922, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3005987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3005987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3005987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/14.4.1922" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Funke1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Funke, H., von Eckardstein, A., Pritchard, P. H., Karas, M., Albers, J. J., Assmann, G.
|
|
<strong>A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin:cholesterol-acyltransferase deficiency, and corneal opacities.</strong>
|
|
J. Clin. Invest. 87: 371-376, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114997" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Genschel1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Genschel, J., Haas, R., Propsting, M. J., Schmidt, H. H.-J.
|
|
<strong>Apolipoprotein A-I induced amyloidosis.</strong>
|
|
FEBS Lett. 430: 145-149, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9688527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9688527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9688527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0014-5793(98)00668-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Ginsberg1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ginsberg, H. N., Le, N.-A., Goldberg, I. J., Gibson, J. C., Rubinstein, A., Wang-Iverson, P., Norum, R., Brown, W. V.
|
|
<strong>Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI: evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.</strong>
|
|
J. Clin. Invest. 78: 1287-1295, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3095375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3095375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3095375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112713" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Glueck1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glueck, C. J., Daniels, S. R., Bates, S., Benton, C., Tracy, T., Third, J. L. H. C.
|
|
<strong>Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.</strong>
|
|
Pediatrics 69: 308-316, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6977760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6977760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6977760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Gualandri1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gualandri, V., Franceschini, G., Sirtori, C. R., Gianfranceschi, G., Orsini, G. B., Cerrone, A., Menotti, A.
|
|
<strong>AI(Milano) apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.</strong>
|
|
Am. J. Hum. Genet. 37: 1083-1097, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3936350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3936350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3936350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Gustafson1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gustafson, A., McConathy, W. J., Alaupovic, P., Curry, M. D., Persson, B.
|
|
<strong>Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.</strong>
|
|
Scand. J. Clin. Lab. Invest. 39: 377-387, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/230573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">230573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=230573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/00365517909106122" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Haddad1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haddad, I. A., Ordovas, J. M., Fitzpatrick, T., Karathanasis, S. K.
|
|
<strong>Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.</strong>
|
|
J. Biol. Chem. 261: 13268-13277, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Halley2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Halley, P., Kadakkuzha, B. M., Faghihi, M. A., Magistri, M., Zeier, Z., Khorkova, O., Coito, C., Hsiao, J., Lawrence, M., Wahlestedt, C.
|
|
<strong>Regulation of the apolipoprotein gene cluster by a long noncoding RNA.</strong>
|
|
Cell Rep. 6: 222-230, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24388749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24388749</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24388749[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24388749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.celrep.2013.12.015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Hamidi Asl1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamidi Asl, K.., Liepnieks, J. J., Nakamura, M., Parker, F., Benson, M. D.
|
|
<strong>A novel apolipoprotein A-1 variant, arg173 to pro, associated with cardiac and cutaneous amyloidosis.</strong>
|
|
Biochem. Biophys. Res. Commun. 257: 584-588, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1999.0518" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Hamidi Asl1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamidi Asl, L., Liepnieks, J. J., Hamidi Asl, K., Uemichi, T., Moulin, G., Desjoyaux, E., Loire, R., Delpech, M., Grateau, G., Benson, M. D.
|
|
<strong>Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.</strong>
|
|
Am. J. Path. 154: 221-227, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9916936[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/S0002-9440(10)65268-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Hayden1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayden, M. R., Kirk, H., Clark, C., Frohlich, J., Rabkin, S., McLeod, R., Hewitt, J.
|
|
<strong>DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.</strong>
|
|
Am. J. Hum. Genet. 40: 421-430, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2883893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Helgadottir2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Helgadottir, A., Gretarsdottir, S., Thorleifsson, G, Hjartarson, E., Sigurdsson, A., Magnusdottir, A., Jonasdottir, A., Kristjansson, H., Sulem, P., Oddsson, A., Sveinbjornsson, G, Steinthorsdottir, V., Rafnar, T., Masson, G., Jonsdottir, I., Olafsson, I., and 17 others.
|
|
<strong>Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.</strong>
|
|
Nature Genet. 48: 634-639, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27135400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27135400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27135400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.3561" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Hiasa1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hiasa, Y., Maeda, T., Mori, H.
|
|
<strong>Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease.</strong>
|
|
Clin. Cardiol. 9: 349-352, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3089658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3089658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3089658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/clc.4960090709" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Huang1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, W., Sasaki, J., Matsunaga, A., Nanimatsu, H., Moriyama, K., Han, H., Kugi, M., Koga, T., Yamaguchi, K., Arakawa, K.
|
|
<strong>A novel homozygous missense mutation in the Apo A-I gene with Apo A-I deficiency.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 18: 389-396, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9514407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9514407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9514407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.18.3.389" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Karathanasis1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Ferris, E., Haddad, I. A.
|
|
<strong>DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 7198-7202, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3118360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3118360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3118360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.84.20.7198" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Karathanasis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., McPherson, J., Zannis, V. I., Breslow, J. L.
|
|
<strong>Linkage of human apolipoproteins A-I and C-III genes.</strong>
|
|
Nature 304: 371-373, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6308458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/304371a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Karathanasis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Norum, R. A., Zannis, V. I., Breslow, J. L.
|
|
<strong>An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis.</strong>
|
|
Nature 301: 718-720, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6402711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6402711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6402711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/301718a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Karathanasis1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Oettgen, P., Haddad, I. A., Antonarakis, S. E.
|
|
<strong>Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).</strong>
|
|
Proc. Nat. Acad. Sci. 83: 8457-8461, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3095836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3095836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3095836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.22.8457" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Karathanasis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Zannis, V. I., Breslow, J. L.
|
|
<strong>Isolation and characterization of the human apolipoprotein A-I gene.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 6147-6151, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6413973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6413973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6413973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.80.20.6147" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Kessling1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kessling, A. M., Horsthemke, B., Humphries, S. E.
|
|
<strong>A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals.</strong>
|
|
Clin. Genet. 28: 296-306, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2998654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2998654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00403.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Kessling1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kessling, A. M., Rajput-Wiliams, J., Bainton, D., Scott, J., Miller, N. E., Baker, I., Humphries, S. E.
|
|
<strong>DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.</strong>
|
|
Am. J. Hum. Genet. 42: 458-467, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2894758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2894758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2894758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Lachmann2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N.
|
|
<strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong>
|
|
New Eng. J. Med. 346: 1786-1791, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa013354" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Ladias1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ladias, J. A. A., Kwiterovich, P. O., Jr., Smith, H. H., Karathanasis, S. K., Antonarakis, S. E.
|
|
<strong>Apolipoprotein A1 Baltimore (arg(10)-to-leu), a new APOA1 variant.</strong>
|
|
Hum. Genet. 84: 439-445, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2108924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2108924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2108924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00195816" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Law1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Brewer, H. B., Jr.
|
|
<strong>Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 66-70, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6198645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6198645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6198645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.81.1.66" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Law1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr., Naylor, S. L., Sakaguchi, A. Y.
|
|
<strong>Human apo A-I gene resides in the p11-q13 region of chromosome 11. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 520 only, 1984.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Law1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr., Sakaguchi, A. Y., Naylor, S. L.
|
|
<strong>Human apolipoprotein A-I and C-III genes reside in the p11-q13 region of chromosome 11.</strong>
|
|
Biochem. Biophys. Res. Commun. 118: 934-942, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6422932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6422932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6422932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(84)91485-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Law1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr.
|
|
<strong>cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.</strong>
|
|
Biochem. Biophys. Res. Commun. 112: 257-264, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6404278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6404278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6404278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(83)91824-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Law1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Owens, J., Fairwell, T., Czarnecki, S., Brewer, H. B., Jr.
|
|
<strong>cDNA cloning of human apolipoprotein A-I, the major apolipoprotein of high density lipoproteins. (Abstract)</strong>
|
|
Clin. Res. 31: 290A only, 1983.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Lusis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lusis, A. J., Taylor, B. A., Wagenstein, R. W., LeBoeuf, R. C.
|
|
<strong>Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.</strong>
|
|
J. Biol. Chem. 258: 5071-5078, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6403543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Martinez2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martinez, L. O., Jacquet, S., Esteve, J.-P., Rolland, C., Cabezon, E., Champagne, E., Pineau, T., Georgeaud, V., Walker, J. E., Terce, F., Collet, X., Perret, B., Barbaras, R.
|
|
<strong>Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.</strong>
|
|
Nature 421: 75-79, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12511957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature01250" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Matsunaga1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsunaga, T., Hiasa, Y., Yanagi, H., Maeda, T., Hattori, N., Yamakawa, K., Yamanouchi, Y., Tanaka, I., Obara, T., Hamaguchi, H.
|
|
<strong>Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 2793-2797, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1901417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1901417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1901417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.88.7.2793" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Miller1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miller, C. J., Miller, N. E.
|
|
<strong>Plasma high density lipoprotein concentration and development of ischaemic heart disease.</strong>
|
|
Lancet 305: 16-19, 1975. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/46338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">46338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=46338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(75)92376-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Naganawa1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naganawa, S., Ginsberg, H. N., Glickman, R. M., Ginsburg, G. S.
|
|
<strong>Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.</strong>
|
|
J. Clin. Invest. 99: 1958-1965, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9109440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI119363" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Nakata1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakata, K., Kobayashi, K., Yanagi, H., Shimakura, Y., Tsuchiya, S., Arinami, T., Hamaguchi, H.
|
|
<strong>Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 196: 950-955, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1993.2341" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Ng1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ng, D. S., Leiter, L. A., Vezina, C., Connelly, P. W., Hegele, R. A.
|
|
<strong>Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.</strong>
|
|
J. Clin. Invest. 93: 223-229, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116949" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Nichols1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Dwulet, F. E., Benson, M. D.
|
|
<strong>Apolipoprotein AI in Iowa type hereditary amyloidosis (FAP type IV). (Abstract)</strong>
|
|
Clin. Res. 35: 595A only, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Nichols1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Dwulet, F. E., Liepnieks, J., Benson, M. D.
|
|
<strong>Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.</strong>
|
|
Biochem. Biophys. Res. Commun. 156: 762-768, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3142462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3142462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3142462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0006-291x(88)80909-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Nichols1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Gregg, R. E., Brewer, H. B., Benson, M. D.
|
|
<strong>Characterization of the gene for familial amyloidotic polyneuropathy (FAP III/Iowa) and genotyping by allele-specific PCR. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A210 only, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Nichols1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Gregg, R. E., Brewer, H. B., Jr., Benson, M. D.
|
|
<strong>A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.</strong>
|
|
Genomics 8: 318-323, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2123470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2123470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2123470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90288-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Nissen2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nissen, S. E., Tsunoda, T., Tuzcu, E. M., Schoenhagen, P., Cooper, C. J., Yasin, M., Eaton, G. M., Lauer, M. A., Sheldon, W. S., Grines, C. L., Halpern, S., Crowe, T., Blankenship, J. C., Kerensky, R.
|
|
<strong>Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.</strong>
|
|
JAMA 290: 2292-2300, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14600188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14600188</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14600188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/jama.290.17.2292" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Norum1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Alaupovic, P.
|
|
<strong>Linkage between loci for apolipoproteins A-I (APOA1) and C-III (APOC3). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 556 only, 1984.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Norum1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Lakier, J. B., Goldstein, S., Angel, A., Goldberg, R. B., Block, W. D., Noffze, D. K., Dolphin, P. J., Edelglass, J., Bogorad, D. D., Alaupovic, P.
|
|
<strong>Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease.</strong>
|
|
New Eng. J. Med. 306: 1513-1519, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7078608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198206243062503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Norum1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Lakier, J. B., Goldstein, S., Rutt, W. M., Morales, A., Block, W. D.
|
|
<strong>High density lipoprotein deficiency and coronary artery disease in sisters: an autosomal recessive trait. (Abstract)</strong>
|
|
Clin. Res. 28: 471A only, 1980.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Norum1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Norum, R. A.
|
|
<strong>Personal Communication.</strong>
|
|
Detroit, Mich. 8/26/1983.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="O'Donnell1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Donnell, K. A., Lusis, A. J.
|
|
<strong>Genetic evidence that the multiple apolipoprotein A-I isoforms are encoded by a common structural gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 114: 275-281, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6411081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6411081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6411081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(83)91624-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Obici1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Obici, L., Bellotti, V., Mangione, P., Stoppini, M., Arbustini, E., Verga, L., Zorzoli, I., Anesi, E., Zanotti, G., Campana, C., Vigano, M., Merlini, G.
|
|
<strong>The new apolipoprotein A-I variant leu174-to-ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.</strong>
|
|
Am. J. Path. 155: 695-702, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10487826[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/S0002-9440(10)65167-X" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Ordovas1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ordovas, J. M., Cassidy, D. K., Civeira, F., Bisgaier, C. L., Schaefer, E. J.
|
|
<strong>Familial apolipoprotein A-I, C-III and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11.</strong>
|
|
J. Biol. Chem. 264: 16339-16342, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2506176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2506176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2506176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Ordovas1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ordovas, J. M., Schaefer, E. J., Salem, D., Ward, R. H., Glueck, C. J., Vergani, C., Wilson, P. W. F., Karathanasis, S. K.
|
|
<strong>Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.</strong>
|
|
New Eng. J. Med. 314: 671-677, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3081805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3081805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3081805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198603133141102" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Pearson1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearson, P. L.
|
|
<strong>Personal Communication.</strong>
|
|
Leiden, The Netherlands 9/1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Plump1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Plump, A. S., Erickson, S. K., Weng, W., Partin, J. S., Breslow, J. L., Williams, D. L.
|
|
<strong>Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.</strong>
|
|
J. Clin. Invest. 97: 2660-2671, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8647961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8647961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8647961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118716" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Protter1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Levy-Wilson, B., Miller, J., Bencen, G., White, T., Seilhamer, J. J.
|
|
<strong>Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the Apo AI and Apo CIII genes.</strong>
|
|
DNA 3: 449-456, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6439535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6439535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6439535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1089/dna.1.1984.3.449" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Rader2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rader, D. J., deGoma, E. J.
|
|
<strong>Approach to the patient with extremely low HDL-cholesterol.</strong>
|
|
J. Clin. Endocr. Metab. 97: 3399-4407, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23043194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23043194</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23043194[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23043194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2012-2185" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Rall1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W., Ogawa, Y., Fielding, C. J., Utermann, G., Haas, J., Steinmetz, A., Menzel, H. J., Assmann, G.
|
|
<strong>Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.</strong>
|
|
J. Biol. Chem. 259: 10063-10070, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6432779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6432779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6432779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Rall1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rall, S. C., Weisgraber, K. H., Mahley, R. W., Ehnholm, C., Schamaun, O., Olaisen, B., Blomhoff, J. P., Teisberg, P.
|
|
<strong>Identification of homozygosity for a human apolipoprotein A-I variant.</strong>
|
|
J. Lipid Res. 27: 436-441, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3723016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3723016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3723016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Rees1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rees, A., Shoulders, C. C., Stocks, J., Galton, D. J., Baralle, F. E.
|
|
<strong>DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.</strong>
|
|
Lancet 321: 444-446, 1983. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6131168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6131168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6131168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(83)91440-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Rees1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rees, A., Stocks, J., Paul, H., Ohuchi, Y., Galton, D.
|
|
<strong>Haplotypes identified by DNA polymorphisms at the apolipoprotein A-I and C-III loci and hypertriglyceridaemia: a study in a Japanese population.</strong>
|
|
Hum. Genet. 72: 168-171, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3080367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3080367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3080367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00283939" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Rees1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rees, A., Stocks, J., Sharpe, C. R., Vella, M. A., Shoulders, C. C., Katz, J., Jowett, N. I., Baralle, F. E., Galton, D. J.
|
|
<strong>Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C-III gene cluster: association with hypertriglyceridemia.</strong>
|
|
J. Clin. Invest. 76: 1090-1095, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2995445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2995445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2995445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112062" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Romling1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Romling, R., von Eckardstein, A., Funke, H., Motti, C., Fragiacomo, G. C., Noseda, G., Assmann, G.
|
|
<strong>A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.</strong>
|
|
Arterioscler. Thromb. 14: 1915-1922, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.14.12.1915" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Sadaf2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sadaf, A., Siddiqui, S., Lestringant, G. G., Frossard, P. M.
|
|
<strong>Apolipoprotein AI promoter variant in blood pressure determination. (Letter)</strong>
|
|
Clin. Genet. 61: 314-316, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2002.610414.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="83" class="mim-anchor"></a>
|
|
<a id="Schaefer2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Anthanont, P., Diffenderfer, M. R., Polisecki, E., Asztalos, B. F.
|
|
<strong>Diagnosis and treatment of high density lipoprotein deficiency.</strong>
|
|
Prog. Cardiovasc. Dis. 59: 97-106, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27565770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27565770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27565770[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27565770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.pcad.2016.08.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="84" class="mim-anchor"></a>
|
|
<a id="Schaefer1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Heaton, W. H., Wetzel, M. G., Brewer, H. B., Jr.
|
|
<strong>Plasma apolipoprotein A-I, absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.</strong>
|
|
Arteriosclerosis 2: 16-26, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6800349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6800349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6800349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.2.1.16" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="85" class="mim-anchor"></a>
|
|
<a id="Schaefer2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Santos, R. D., Asztalos, B. F.
|
|
<strong>Marked HDL deficiency and premature coronary heart disease.</strong>
|
|
Curr. Opin. Lipid. 21: 289-297, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616715</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20616715[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20616715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/MOL.0b013e32833c1ef6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="86" class="mim-anchor"></a>
|
|
<a id="Schamaun1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schamaun, O., Olaisen, B., Gedde-Dahl, T., Jr., Teisberg, P.
|
|
<strong>Genetic studies of an apoA-I lipoprotein variant.</strong>
|
|
Hum. Genet. 64: 380-383, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6413385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6413385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6413385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00292371" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="87" class="mim-anchor"></a>
|
|
<a id="Schroeder1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schroeder, W. T., Saunders, G. F.
|
|
<strong>Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.</strong>
|
|
Cytogenet. Cell Genet. 44: 231-233, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3107917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3107917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3107917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000132377" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="88" class="mim-anchor"></a>
|
|
<a id="Shah2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shah, P. K., Yano, J., Reyes, O., Chyu, K.-Y., Kaul, S., Bisgaier, C. L., Drake, S., Cercek, B.
|
|
<strong>High-dose recombinant apolipoprotein A-I(Milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein E-deficient mice: potential implications for acute plaque stabilization.</strong>
|
|
Circulation 103: 3047-3050, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11425766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11425766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11425766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/hc2501.092494" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="89" class="mim-anchor"></a>
|
|
<a id="Shoulders1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Kornblihtt, A. R., Munro, B. S., Baralle, F. E.
|
|
<strong>Gene structure of human apolipoprotein A-I.</strong>
|
|
Nucleic Acids Res. 11: 2827-2837, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6406984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6406984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6406984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/11.9.2827" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="90" class="mim-anchor"></a>
|
|
<a id="Smith1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, J. D., Brinton, E. A., Breslow, J. L.
|
|
<strong>Polymorphism in the human apolipoprotein A-I gene promoter region: association of the minor allele with decreased production rate in vivo and promoter activity in vitro.</strong>
|
|
J. Clin. Invest. 89: 1796-1800, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1601989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1601989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1601989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115783" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="91" class="mim-anchor"></a>
|
|
<a id="Soutar1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Soutar, A. K., Hawkins, P. N., Vigushin, D. M., Tennent, G. A., Booth, S. E., Hutton, T., Nguyen, O., Totty, N. F., Feest, T. G., Hsuan, J. J., Pepys, M. B.
|
|
<strong>Apolipoprotein AI mutation arg-60 causes autosomal dominant amyloidosis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 7389-7393, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1502149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1502149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1502149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.16.7389" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="92" class="mim-anchor"></a>
|
|
<a id="Stocks1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stocks, J., Paul, H., Galton, D.
|
|
<strong>Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-I C-III A-IV gene region and hypertriglyceridemia.</strong>
|
|
Am. J. Hum. Genet. 41: 106-118, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2887109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2887109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2887109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="93" class="mim-anchor"></a>
|
|
<a id="Strobl1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Strobl, W., Jabs, H.-U., Hayde, M., Holzinger, T., Assmann, G., Widhalm, K.
|
|
<strong>Apolipoprotein A-I (glu198-to-lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia.</strong>
|
|
Pediat. Res. 24: 222-228, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3141894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3141894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3141894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/00006450-198808000-00017" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="94" class="mim-anchor"></a>
|
|
<a id="Third1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Third, J. L. H. C., Montag, J., Flynn, M., Freidel, J., Laskarzewski, P., Glueck, C. J.
|
|
<strong>Primary and familial hypoalphalipoproteinemia.</strong>
|
|
Metabolism 33: 136-146, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6694557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0026-0495(84)90126-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="95" class="mim-anchor"></a>
|
|
<a id="Thompson1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thompson, E. A., Deeb, S., Walker, D., Motulsky, A. G.
|
|
<strong>The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.</strong>
|
|
Am. J. Hum. Genet. 42: 113-124, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="96" class="mim-anchor"></a>
|
|
<a id="Utermann1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A.
|
|
<strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong>
|
|
J. Biol. Chem. 257: 501-507, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7082443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7082443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7082443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="97" class="mim-anchor"></a>
|
|
<a id="Utermann1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Utermann, G., Haas, J., Steinmetz, A., Paetzold, R., Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W.
|
|
<strong>Apolipoprotein A-I(Giessen) (pro143-to-arg): a mutant that is defective in activating lecithin:cholesterol acyltransferase.</strong>
|
|
Europ. J. Biochem. 144: 325-331, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6489332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6489332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6489332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1432-1033.1984.tb08467.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="98" class="mim-anchor"></a>
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<a id="Utermann1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Utermann, G., Steinmetz, A., Paetzold, R., Wilk, J., Feussner, G., Kaffarnik, H., Mueller-Eckhardt, C., Seidel, D., Vogelberg, K.-H., Zimmer, F.
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|
<strong>Apolipoprotein AI(Marburg): studies of two kindreds with a mutant of human apolipoprotein AI.</strong>
|
|
Hum. Genet. 61: 329-337, 1982.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6818131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6818131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6818131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00276597" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="99" class="mim-anchor"></a>
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<a id="Van Allen1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Allen, M. W., Frohlich, J. A., Davis, J. R.
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<strong>Inherited predisposition to generalized amyloidosis: clinical and pathological study of a family with neuropathy, nephropathy and peptic ulcer.</strong>
|
|
Neurology 19: 10-25, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4304452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4304452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4304452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.19.1.10" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="100" class="mim-anchor"></a>
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<a id="Vergani1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vergani, C., Bettale, G.
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|
<strong>Familial hypo-alpha-lipoproteinemia.</strong>
|
|
Clin. Chim. Acta 114: 45-52, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7249374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7249374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7249374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0009-8981(81)90226-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="101" class="mim-anchor"></a>
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<a id="von Eckardstein1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., Assmann, G., Welp, S., Roetrige, A., Kock, R.
|
|
<strong>Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.</strong>
|
|
J. Clin. Invest. 84: 1722-1730, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2512329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114355" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="102" class="mim-anchor"></a>
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<a id="Weisgraber1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weisgraber, K. H., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R.
|
|
<strong>A-I (Milano) apoprotein: isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins.</strong>
|
|
J. Clin. Invest. 66: 901-907, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6776144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6776144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6776144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI109957" target="_blank">Full Text</a>]
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<li>
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<a id="103" class="mim-anchor"></a>
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<a id="Weisgraber1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weisgraber, K. H., Rall, S. C., Jr., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R.
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|
<strong>Apolipoprotein A-I (Milano): detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.</strong>
|
|
J. Biol. Chem. 258: 2508-2513, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6401735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="104" class="mim-anchor"></a>
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<a id="Yamakawa-Kobayashi1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamakawa-Kobayashi, K., Yanagi, H., Fukayama, H., Hirano, C., Shimakura, Y., Yamamoto, N., Arinami, T., Tsuchiya, S., Hamaguchi, H.
|
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<strong>Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.</strong>
|
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Hum. Molec. Genet. 8: 331-336, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.2.331" target="_blank">Full Text</a>]
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<li>
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<a id="105" class="mim-anchor"></a>
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<a id="Yui1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yui, Y., Aoyama, T., Morishita, H., Takahashi, M., Takatsu, Y., Kawai, C.
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<strong>Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I): a novel function of Apo A-I.</strong>
|
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J. Clin. Invest. 82: 803-807, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3047170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3047170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3047170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113682" target="_blank">Full Text</a>]
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<li>
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<a id="106" class="mim-anchor"></a>
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<a id="Zhang2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Y., Zanotti, I., Reilly, M. P., Glick, J. M., Rothblat, G. H., Rader, D. J.
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<strong>Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.</strong>
|
|
Circulation 108: 661-663, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.CIR.0000086981.09834.E0" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott - updated : 10/31/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 04/20/2022<br>Ada Hamosh - updated : 08/19/2019<br>Patricia A. Hartz - updated : 3/24/2006<br>Marla J. F. O'Neill - updated : 10/22/2004<br>Victor A. McKusick - updated : 1/23/2004<br>Ada Hamosh - updated : 2/3/2003<br>Victor A. McKusick - updated : 8/12/2002<br>Victor A. McKusick - updated : 6/10/2002<br>Victor A. McKusick - updated : 1/6/2000<br>Victor A. McKusick - updated : 8/2/1999<br>Victor A. McKusick - updated : 7/2/1999<br>Victor A. McKusick - updated : 3/22/1999<br>Victor A. McKusick - updated : 3/9/1999<br>Victor A. McKusick - updated : 11/3/1998<br>Ada Hamosh - updated : 6/16/1998<br>Michael J. Wright - updated : 9/25/1997<br>Victor A. McKusick - updated : 5/9/1997<br>Mark H. Paalman - updated : 10/1/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 05/17/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 10/31/2022<br>carol : 09/28/2022<br>carol : 04/25/2022<br>carol : 04/21/2022<br>joanna : 04/21/2022<br>carol : 04/21/2022<br>carol : 04/21/2022<br>carol : 04/20/2022<br>alopez : 05/28/2021<br>carol : 03/18/2020<br>carol : 08/19/2019<br>carol : 06/06/2019<br>carol : 06/04/2019<br>carol : 09/19/2018<br>carol : 09/18/2018<br>carol : 09/13/2017<br>carol : 09/12/2017<br>carol : 09/11/2017<br>carol : 10/13/2016<br>joanna : 08/03/2012<br>carol : 3/7/2012<br>carol : 11/9/2011<br>carol : 5/23/2011<br>terry : 6/3/2009<br>carol : 1/16/2009<br>carol : 1/12/2009<br>carol : 1/12/2009<br>terry : 1/8/2009<br>terry : 1/7/2009<br>carol : 11/25/2008<br>wwang : 4/24/2006<br>wwang : 3/29/2006<br>terry : 3/24/2006<br>carol : 10/22/2004<br>terry : 6/18/2004<br>tkritzer : 1/29/2004<br>terry : 1/23/2004<br>alopez : 2/4/2003<br>terry : 2/3/2003<br>tkritzer : 8/15/2002<br>tkritzer : 8/14/2002<br>terry : 8/12/2002<br>cwells : 7/2/2002<br>terry : 6/10/2002<br>ckniffin : 5/29/2002<br>alopez : 10/9/2001<br>carol : 11/20/2000<br>carol : 4/21/2000<br>terry : 1/31/2000<br>mgross : 1/12/2000<br>terry : 1/6/2000<br>carol : 10/5/1999<br>alopez : 8/11/1999<br>alopez : 8/3/1999<br>carol : 8/2/1999<br>jlewis : 7/15/1999<br>terry : 7/2/1999<br>carol : 3/25/1999<br>terry : 3/22/1999<br>terry : 3/9/1999<br>carol : 11/9/1998<br>terry : 11/3/1998<br>alopez : 9/17/1998<br>alopez : 9/17/1998<br>alopez : 6/16/1998<br>terry : 11/11/1997<br>alopez : 11/11/1997<br>alopez : 11/11/1997<br>alopez : 11/10/1997<br>mark : 9/1/1997<br>mark : 5/28/1997<br>alopez : 5/9/1997<br>mark : 5/9/1997<br>alopez : 5/7/1997<br>joanna : 2/13/1997<br>mark : 10/1/1996<br>mark : 9/5/1996<br>terry : 8/27/1996<br>marlene : 8/15/1996<br>terry : 7/16/1996<br>terry : 7/15/1996<br>mark : 1/27/1996<br>terry : 1/19/1996<br>carol : 2/13/1995<br>terry : 11/18/1994<br>jason : 7/5/1994<br>warfield : 4/7/1994<br>pfoster : 3/31/1994<br>mimadm : 2/21/1994
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 107680
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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APOLIPOPROTEIN A-I; APOA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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APOLIPOPROTEIN OF HIGH DENSITY LIPOPROTEIN
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</span>
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</h4>
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<br />
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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APOA1/APOC3 FUSION GENE, INCLUDED
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</span>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: APOA1</em></strong>
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</span>
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</p>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238095002, 9133005;
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</span>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:116,835,751-116,837,622 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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11q23.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Amyloidosis, hereditary systemic 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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620657
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Hypoalphalipoproteinemia, primary, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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618463
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Hypoalphalipoproteinemia, primary, 2, intermediate
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</span>
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</td>
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<td>
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<span class="mim-font">
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619836
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>APOA1 is the major protein component of high density lipoprotein (HDL) in plasma and is primarily synthesized in liver and small intestine (summary by Halley et al., 2014). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Breslow et al. (1982) isolated and characterized cDNA clones for human apoA-I. Apolipoprotein A-I is the major apoprotein of HDL and is a relatively abundant plasma protein with a concentration of 1.0-1.5 mg/ml. It is a single polypeptide chain with 243 amino acid residues of known primary amino acid sequence (Brewer et al., 1978). </p><p>ApoA-I is a cofactor for LCAT (606967), which is responsible for the formation of most cholesteryl esters in plasma. ApoA-I also promotes efflux of cholesterol from cells. The liver and small intestine are the sites of synthesis of apoA-I. The primary translation product of the APOA1 gene contains both a pre and a pro segment, and posttranslational processing of apoA-I may be involved in the formation of the functional plasma apoA-I isoproteins. The primary gene transcript encodes a preproapoA-I containing 24 amino acids on the amino terminus of the mature plasma apoA-I (Law et al., 1983). Dayhoff (1976) pointed to sequence homologies of A-I, A-II (107670), C-I (107710), and C-III (107720). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yui et al. (1988) found that apoA-I is identical to serum PGI(2) stabilizing factor (PSF). They noted that PGI(2), or prostacyclin, is synthesized by the vascular endothelium and smooth muscle, and functions as a potent vasodilator and inhibitor of platelet aggregation. They suggested that the stabilization of PGI(2) by HDL and apoA-I may be an important protective action against the accumulation of platelet thrombi at sites of vascular damage. The beneficial effects of HDL in the prevention of coronary artery disease may be partly explained by this effect. </p><p>Martinez et al. (2003) identified a high affinity HDL receptor for apolipoprotein A1 as the beta chain of ATP synthase (ATP5B; 102910), a principal protein complex of the mitochondrial inner membrane. They used a variety of experimental approaches to confirm this ectopic localization of components of the ATP synthase complex and the presence of ATP hydrolase activity at the hepatocyte cell surface. Receptor stimulation by apoA-I triggers the endocytosis of holo-HDL particles (protein plus lipid) by a mechanism that depends strictly on the generation of ADP. Martinez et al. (2003) confirmed this effect on endocytosis in perfused rat liver ex vivo by using a specific inhibitor of ATP synthase. Thus, Martinez et al. (2003) concluded that membrane-bound ATP synthase has a previously unsuspected role in modulating the concentrations of extracellular ADP and is regulated by a principal plasma apolipoprotein. </p><p>Zhang et al. (2003) injected (3)H-cholesterol-labeled macrophage foam cells intraperitoneally into mice overexpressing Apoa1 and control mice and detected (3)H-cholesterol in plasma, lung, spleen, liver, and feces. Mice overexpressing Apoa1 had significantly higher plasma (3)H-cholesterol and higher (3)H-tracer in the liver and excreted 63% more (3)H-tracer into feces over 48 hours than did control mice (p less than 0.05). Zhang et al. (2003) concluded that APOA1 overexpression promotes macrophage-specific reverse cholesterol transport. </p><p>Halley et al. (2014) identified APOA1AS as an antisense long noncoding RNA (lncRNA) of the APOA1 gene. Knockdown of APOA1AS via short interfering RNA in HepG2 cells resulted in increased expression of APOA1 and its neighboring genes APOC3 and APOA4 (107690) in the APO gene cluster on chromosome 11. Chromatin immunoprecipitation analysis of an approximately 50-kb chromatin region flanking the APOA1 gene demonstrated that APOA1AS modulated distinct histone methylation patterns that marked active and/or inactive gene expression by recruitment of histone-modifying enzymes. Downregulation of APOA1AS via short antisense oligonucleotides led to increased APOA1 expression in both human and monkey liver cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Law et al. (1984) assigned the APOA1 gene to 11p11-q13 by filter hybridization analysis of human-mouse cell hybrid DNAs. The genes for apoA-I and apoC-III are on chromosome 9 in the mouse. Mouse homologs of other genes on human 11p (insulin, beta-globin, LDHA, HRAS) are situated on mouse chromosome 7. Using a cDNA probe to detect apoA-I structural gene sequences in human-Chinese hamster cell hybrids, Cheung et al. (1984) assigned the gene to the region 11q13-qter. Since other information had suggested 11p11-q13 as the location, the SRO becomes 11q13. It is noteworthy that in the mouse and in man, APOA1 and PGBD (called Ups in the mouse) are syntenic. Both are on chromosome 11 in man and chromosome 9 in the mouse. Bruns et al. (1984) localized the genes for apoA-I and apoC-III (previously shown to be in a 3-kb segment of the genome; Breslow et al., 1982; Shoulders et al., 1983) to chromosome 11 by Southern blot analysis of DNA from human-rodent cell hybrids. Because in the mouse apoA-I is on chromosome 9 and apoA-II is on chromosome 1 (Lusis et al., 1983), the gene for human apoA-II is probably not on chromosome 11. Indeed, APOA2 (107670) is on human chromosome 1. On the basis of data provided by Pearson (1987), the APOA1 locus was assigned to 11q23-qter by HGM9. This would place APOC3 and APOA4 in the same region. Because the XmnI genotype at the APOA1 locus was heterozygous in a boy with partial deletion of the long arm of chromosome 11, del(11)(q23.3-qter), Arinami et al. (1990) localized the gene to 11q23 by excluding the region 11q24-qter. </p><p>Haddad et al. (1986) found that in the rat, as in man, the APOA1, APOC3 and APOA4 genes are closely linked. Indeed, their direction of transcription, size, relative location and intron-exon organization were found to be remarkably similar to those of the corresponding human genes. </p><p>The APOA1 and APOC3 genes are oriented 'foot-to-foot,' i.e., the 3-prime end of APOA1 is followed after an interval of about 2.5 kb by the 3-prime end of APOC3 (Karathanasis et al., 1983). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Hypoalphalipoproteinemia, Primary, 2</em></strong></p><p>
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Many variants in the APOA1 gene have been identified, some of which have been associated with hypoalphalipoproteinemia leading to atherosclerosis, xanthoma, and corneal opacity (see 618463). Mutations that result in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C) are more likely to result in severe manifestations. In general, individuals with half-normal levels of apoA-I and HDL-C do not have increased cardiovascular risk (summary by Rader and deGoma, 2012). </p><p>Lack of detectable plasma apolipoprotein A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion (summary by Schaefer et al., 2010). </p><p>To determine the frequency of de novo hypoalphalipoproteinemia in the general population due to mutation in the APOA1 gene, Yamakawa-Kobayashi et al. (1999) analyzed sequence variations in the APOA1 gene in 67 children with a low high-density lipoprotein cholesterol level. These children were selected from 1,254 school children through a school survey. Four different mutations with deleterious potential, 3 frameshifts and 1 splice site mutation, were identified in 4 subjects. The plasma apoA-I levels of the 4 children with these mutations were reduced to approximately half of the normal levels and were below the first percentile of the general population distribution (80 mg/dl). The frequency of hypoalphalipoproteinemia due to a mutant APOA1 gene was estimated at 6% in subjects with low HDL cholesterol levels and 0.3% in the Japanese population generally. </p><p>In an otherwise healthy 42-year-old man with massive corneal clouding, Funke et al. (1991) identified a homozygous 1-bp deletion in the APOA1 gene (107680.0014) as the basic defect responsible for complete absence of HDL from the plasma and corneal opacities. Heterozygous carriers of the deletion, including the proband's mother and 3 of this children, showed approximately half-normal HDL cholesterol concentrations. </p><p>In the Japanese woman with apoA-I deficiency, xanthomas, and premature atherosclerosis reported by Hiasa et al. (1986), Matsunaga et al. (1991) identified homozygosity for a nonsense mutation in the APOA1 gene (Q84X; 107680.0015). </p><p>In a Sicilian woman, born to first-cousin parents, who developed bilateral periorbital xanthelasmas during her first pregnancy at age 22, Romling et al. (1994) identified homozygosity for a nonsense mutation (Q32X; 107680.0019) in the APOA1 gene. The xanthelasmas did not progress after delivery. </p><p><strong><em>Hypoalphalipoproteinemia, Primary, 2, Intermediate</em></strong></p><p>
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In 3 healthy Japanese individuals, including a 10-year-old proband and her 34-year-old mother and 36-year-old maternal aunt, with low levels of apoA-I and HDL-C levels, Nakata et al. (1993) identified a heterozygous mutation in the APOA1 gene (107680.0018). </p><p><strong><em>Combined ApoA-I and ApoC-III Deficiency</em></strong></p><p>
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Rees et al. (1983) studied the cloned APOA1 gene and a DNA polymorphism 3-prime to it. Rees et al. (1985) found a strong correlation between hypertriglyceridemia and a DNA sequence polymorphism located in or near the 3-prime noncoding region of APOC3 and revealed by digestion of human DNA with the restriction enzyme Sst-1 and hybridization with an APOA1 cDNA probe. In 74 hypertriglyceridemic Caucasians, 3 were homozygous and 23 were heterozygous for the polymorphism, giving a gene frequency of 0.19; none of 52 normotriglyceridemics had the polymorphism, although it was frequent in Africans, Chinese, Japanese, and Asian Indians. No differences in high density lipoprotein or in apolipoproteins A-I and C-III phenotypes were found in persons with or without the polymorphism. </p><p>Ferns et al. (1985) found an uncommon allelic variant (called S2) of the apoA-I/C-III gene cluster in 10 of 48 postmyocardial infarction patients (21%). In 47 control subjects it was present in only 2 and in none of those who were normotriglyceridemic. (The S2 allele, a DNA polymorphism, is characterized by SstI restriction fragments of 5.7 and 3.2 kb, whereas the common S1 allele produces fragments of 5.7 and 4.2 kb.) Ferns et al. (1985) found no difference in the distribution of alleles in the highly polymorphic region of 11p near the insulin gene. </p><p>In Japanese, Rees et al. (1986) found association of triglyceridemia with a different haplotype of the A-I/C-III region than that found in Caucasians. </p><p>Ferns et al. (1986) found a common allele of the APOA2 locus which showed a weak association with hypertriglyceridemia; in contrast, an uncommon allele of the APOA1-APOC3-APOA4 gene cluster demonstrated a stronger relationship with hypertriglyceridemia. Ferns et al. (1986) found higher levels of serum triglycerides with possession of both disease-related alleles than with either singly. </p><p>In certain patients with premature atherosclerosis, Karathanasis et al. (1987) demonstrated a DNA inversion containing portions of the 3-prime ends of the APOA1 and APOC3 genes, including the DNA region between these genes. The breakpoints of this DNA inversion were found to be located between the fourth exon of the APOA1 gene and the first intron of the APOC3 gene; thus, the inversion results in reciprocal fusion of the 2 gene transcriptional units. The absence of transcripts with correct mRNA sequences causes deficiency of both apolipoproteins in the plasma of these patients, leading to atherosclerosis. </p><p>In addition to its ability to remove cholesterol from cells, HDL also delivers cholesterol to cells through a poorly defined process in which cholesteryl esters are selectively transferred from HDL particles into the cell without the uptake and degradation of the lipoprotein particle. In steroidogenic cells of rodents, the selective uptake pathway accounts for 90% or more of the cholesterol destined for steroid production or cholesteryl ester accumulation. To test the importance of the 3 major HDL proteins in determining cholesteryl ester accumulation in steroidogenic cells of the adrenal gland, ovary, and testis, Plump et al. (1996) used mice which had been rendered deficient in apoA-I, apoA-II, or apoE by gene targeting in embryonic stem cells. ApoE and apoA-II deficiencies were found to have only modest effects on cholesteryl ester accumulation. In contrast, apoA-I deficiency caused an almost complete failure to accumulate cholesteryl ester in steroidogenic cells. Plump et al. (1996) interpreted these results as indicating that apoA-I is essential for the selective uptake of HDL cholesteryl esters. They stated that the lack of apoA-I has a major impact on adrenal gland physiology, causing diminished basal corticosteroid production, a blunted steroidogenic response to stress, and increased expression of compensatory pathways to provide cholesterol substrate for steroid production. </p><p><strong><em>Combined ApoA-I/C-III/A-IV Deficiency</em></strong></p><p>
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Schaefer et al. (1982) studied the plasma lipids of a middle-aged woman who died following coronary artery bypass grafting for atherosclerotic narrowing of multiple arteries. She had markedly reduced high density lipoprotein, no detectable apolipoprotein A-I, normal A-II, and moderately reduced apolipoproteins B and C. Both of her children, all 6 of her living sibs, and both parents had reduced apolipoprotein A-I and HDL levels and normal apolipoprotein A-II. Three of the sibs and their mother had coronary disease. The proband had corneal clouding due to diffuse lipid deposits in the epithelial cells; none of the heterozygotes had this finding. Ordavas et al. (1989) demonstrated that all of the APOA1/APOC3/APOA4 gene complex was deleted from a point about 3.1 kb 5-prime to the APOA1 gene to a point 3-prime to the APOA4 gene. </p><p><strong><em>Familial Combined Hyperlipidemia</em></strong></p><p>
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Hayden et al. (1987) found an association between certain RFLPs and familial combined hyperlipidemia (FCHL; 144250). In studies of 3 restriction enzyme polymorphisms in the AI-CIII-AIV gene cluster, Dallinga-Thie et al. (1997) analyzed haplotypes and showed an association with severe hyperlipidemia in subjects with FCHL. Furthermore, nonparametric sib pair linkage analysis revealed significant linkage between these markers in the gene cluster and the FCHL phenotype. The findings confirmed that the AI-CIII-AIV gene cluster contributes to the FCHL phenotype, but this contribution is genetically complex. An epistatic interaction between different haplotypes of the gene cluster was demonstrated. They concluded that 2 different susceptibility loci exist in the gene cluster. </p><p><strong><em>Hereditary Systemic Amyloidosis 3</em></strong></p><p>
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Genschel et al. (1998) counted 4 naturally occurring mutant forms of apoA-I that were known at that time to result in amyloidosis (see AMYLD3, 620657). The most important feature of all variants was the very similar formation of N-terminal fragments found in the amyloid deposits. They summarized the specific features of all known amyloidogenic variants of APOA1 and speculated about the metabolic pathway involved. </p><p>Schaefer et al. (2016) reviewed apoA-I-derived amyloidosis. The majority of the amyloidogenic mutations are located in 2 hotspot regions in that span amino acid residues 26-107 and 154-178. The mutations result in the formation of apoA-I-amyloid protein complexes. This causes enhanced amyloid proteolysis and amyloid deposition of 9-11 kD N-terminal fragments as fibrils in the kidney, liver, and heart. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Sadaf et al. (2002) found an association between a variant of the APOA1 promoter (the G-to-A difference at position -75) and blood pressure in a study in the United Arab Emirates. Both systolic and diastolic blood pressure varied in a gene-dosage-related manner in individuals of the AA, AG, and GG genotypes, with lowest pressures associated with the GG genotype. </p><p>See 107680.0029 for discussion of a possible association between variation in the APOA1 gene and an increase in HDL-C levels.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Utermann et al. (1982) described methods for rapid screening and characterization of variant group A apolipoproteins. </p><p>Kessling et al. (1985) failed to find an association between any allele of several RFLPs studied and hypertriglyceridemia. </p><p>Buraczynska et al. (1985) found association between an EcoRI polymorphism of the APOA1 gene and noninsulin-dependent diabetes mellitus. </p><p>In 4 generations of a Norwegian kindred, Schamaun et al. (1983) found, by 2-D electrophoresis, a variant of apolipoprotein A-I. Codominant inheritance was displayed. One homozygote was identified. There was no obvious cardiovascular disease, even in the homozygote. </p><p>Kessling et al. (1988) studied the high density lipoprotein-cholesterol concentrations along with restriction fragment length polymorphisms in the APOA2 and APOA1-APOC3-APOA4 gene cluster in 109 men selected from a random sample of 1,910 men aged 45 to 59 years. They found no significant difference in allelic frequencies at either locus between the groups of individuals with high and low HDL cholesterol levels. They did find an association between a PstI RFLP associated with apoA-I and genetic variation determining the plasma concentration of apoA-I. No significant association was found between alleles for the apoA-II MspI RFLP and apoA-II or HDL concentrations. </p><p>Antonarakis et al. (1988) studied DNA polymorphism of a 61-kb segment of 11q that contains the APOA1, APOC3, and APOA4 genes within a 15-kb stretch. Eleven RFLPs located within the 61-kb segment were used by haplotype analysis. Considerable linkage disequilibrium was found. Several haplotypes had arisen by recombination and the rate of recombination within the gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. Taken individually, the polymorphism information content (PIC) of each of the 11 polymorphisms ranged from 0.053 to 0.375, while that of their haplotypes ranged between 0.858 and 0.862. (The PIC value, which was introduced by Botstein et al. (1980) in their classic paper on the use of RFLPs as linkage markers, represents the sum of the frequency of each possible mating multiplied by the probability that an offspring will be informative.) </p><p>Thompson et al. (1988) investigated the seeming paradox that 2 RFLPs at the A-I/C-III cluster were in strong linkage disequilibrium while a third variant, located between the 2 other markers, appeared to be in linkage equilibrium with these 2 'outside' markers. Thompson et al. (1988) showed that, for the gene frequencies encountered, very large sample sizes would be required to demonstrate negative (i.e., repulsion-phase) linkage disequilibrium. Such numbers are usually difficult to attain in human studies. Therefore, failure to demonstrate linkage disequilibrium by conventional methods does not necessarily imply its absence. </p><p>Using a PstI polymorphism at the 3-prime end of the APOA1 gene, Ordovas et al. (1986) found the rarer allele ('3.3-kb band') in 4.1% of 123 randomly selected control subjects and 3.3% of 30 subjects with no angiographic evidence of coronary artery disease. In contrast, among 88 patients who had severe coronary artery disease before age 60, as documented by angiography, the frequency was 32%. It was also found in 8 of 12 index cases of kindreds with familial hypoalphalipoproteinemia. Among all patients with coronary artery disease, 58% had HDL cholesterol levels below the 10th percentile; however, this frequency increased to 73% when patients with the 3.3-kb band were considered. </p><p>Smith et al. (1992) investigated the common G/A polymorphism in the APOA1 gene promoter at a position 76 bp upstream of the transcriptional start site (-76). Of 54 subjects whose apoA-I production rates had been determined by turnover studies, 35 were homozygous for a guanosine at this locus and 19 were heterozygous for a guanosine and adenosine (G/A). The apoA-I production rates were significantly lower (by 11%) in the G/A heterozygotes than in the G homozygotes (p = 0.025). However, no effect on HDL cholesterol or apoA-I levels were noted. Differential gene expression of the 2 alleles was tested by linking each of the alleles to the reporter gene chloramphenicol acetyltransferase and determining relative promoter efficiencies after transfection into the human HepG2 hepatoma cell line. The A allele, as well as the G allele, expressed only 68%. </p><p>Naganawa et al. (1997) reported 2 haplotypes due to 5 polymorphisms in the intestinal enhancer region of the APOA1 gene in endoscopic biopsy samples from healthy volunteers. The mutant haplotype had a population frequency of 0.44; frequency of wildtype was 0.53. APOA1 mRNA levels were 49% lower in mutant haplotype homozygotes than in wildtype homozygotes, while APOA1 synthesis was 37% lower than wildtype in individuals homozygous for the mutant allele. Heterozygotes had 28% and 41% reductions of mRNA levels and APOA1 synthesis, respectively, as compared to wildtype homozygotes. Expression studies in Caco-2 cells showed a 46% decrease in transcriptional activity in cells containing the mutant constructs, and binding of Caco-2 nuclear proteins in mutant, but not wildtype, sequences. Naganawa et al. (1997) concluded that intestinal APOA1 transcription and protein synthesis were reduced in the presence of common mutations which induced nuclear protein binding. </p><p><strong><em>Retraction</em></strong></p><p>
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The article by Ajees et al. (2006) describing the crystal structure of human APOA1 was retracted by the publisher because the US Office of Research Integrity found that 'H. M. Krishna Murthy falsified and/or fabricated the protein crystal structure of apolipoprotein A-I reported in this article and the corresponding structure factors and coordinate file deposited in the Protein Data Bank for entry 2A01.' </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>29 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 APOLIPOPROTEIN A-I (MILANO)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, ARG173CYS
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<br />
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SNP: rs28931573,
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gnomAD: rs28931573,
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ClinVar: RCV000019498
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Franceschini et al. (1980) found hypertriglyceridemia with mildly reduced levels of high density lipoprotein (HDL) levels in father, son, and daughter of an Italian family (619836). The affected persons showed no clinical signs of atherosclerosis and the family had no unusual occurrence of atherosclerotic disease. Analytical isoelectric focusing of HDL apoproteins and 2-dimensional immunoelectrophoresis against apoA antiserum showed quantitative and qualitative changes in apolipoprotein A-I. In the anomalous protein, Weisgraber et al. (1980) found a cysteine residue which is not present in the normal apoprotein. The anomalous protein was designated A-I (Milano) and denoted A-I (cys) by them. This was the first discovered example of variation in the amino acid sequence of a plasma lipoprotein. Serum cholesterol was normal. Weisgraber et al. (1983) showed that cysteine is substituted for arginine at position 173. This change in the protein probably reflects a change of CGC to TGC, since this is the only possibility requiring change of a single nucleotide. </p><p>Gualandri et al. (1985) traced the origin of the gene for A-I (Milano) to Limone sul Garda, a small community of about 1,000 persons in northern Italy. In a study of the entire population, 33 living carriers were found, ranging in age from 2 to 81 years. The genealogy showed origin of all cases from a single couple living in the 18th century. Despite low HDL cholesterol levels and increased (though not significantly so) mean level of triglycerides, no evidence of increased atherosclerosis was found. </p><p>Shah et al. (2001) formulated recombinant A-I (Milano) in a complex with a naturally occurring phospholipid. Studies in mice and rabbits with experimental atherosclerosis demonstrated that such complexes rapidly mobilized cholesterol and thereby reduced atherosclerotic plaque burden. The antiatherosclerotic effects occurred in animals as rapidly as 48 hours after a single infusion. In humans, Nissen et al. (2003) found that this complex, administered intravenously for 5 doses at weekly intervals, produced significant regression of coronary atherosclerosis as measured by intravascular ultrasound. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 APOLIPOPROTEIN A-I (MARBURG)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, LYS107DEL
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<br />
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SNP: rs121912716,
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ClinVar: RCV000019500
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Utermann et al. (1982) described a variant apolipoprotein, which they named apoA-I(Marburg). Utermann et al. (1982) found a frequency of about 1 per 750 persons for apoA-I(Marburg) in West Germany (3 heterozygotes in 2,282 unrelated persons). All 3 heterozygotes had hypertriglyceridemia and subnormal HDL cholesterol (619836). Family data from 2 kindreds were consistent with autosomal codominant inheritance. </p><p>Rall et al. (1984) demonstrated reduced activation of LCAT (606967) but no reduction in HDL cholesterol or clinical consequences in association with deletion of lysine-107. </p><p>Breslow (1988) noted that apoA-I(Marburg) described by Utermann et al. (1982) and the lys107del mutation (apoA-I-Munster2A) described by Rall et al. (1984) are likely identical. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 APOLIPOPROTEIN A-I (MUNSTER4)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, GLU198LYS
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<br />
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SNP: rs121912717,
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gnomAD: rs121912717,
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ClinVar: RCV000019501, RCV001851951, RCV002467499, RCV005049381
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Strobl et al. (1988) described the third case of a glu198-to-lys mutation in the APOA1 gene and the first instance in which a family study was performed, with identification of 5 other persons with the variant in heterozygous form (619836). The mutation appeared to bear no relationship to premature atherosclerosis. Despite the fact that the mutation occurred in a part of the molecule thought to be involved in lipid binding, it bound almost exclusively to HDL as does normal apoA-I. </p><p>Breslow (1988) noted that this mutation is designated apoA-I(Munster4). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 APOLIPOPROTEIN A-I (NORWAY)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, GLU136LYS
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<br />
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SNP: rs121912718,
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gnomAD: rs121912718,
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ClinVar: RCV000019502
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>An apoA-I mutant with electrophoretic mobility similar to that of glu198-to-lys (107680.0003) was found to have a glu136-to-lys substitution (Schamaun et al., 1983; Rall et al., 1986). </p><p>Breslow (1988) noted that this mutation is designated apoA-I(Norway). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-text-font">
|
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<strong>.0005 MOVED TO 107680.0002</strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 APOLIPOPROTEIN A-I (GIESSEN)</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, PRO143ARG
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<br />
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|
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SNP: rs121912719,
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ClinVar: RCV000019499, RCV002513123
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Utermann et al. (1982) described this apoA-I variant, which they designated apoA-I(Giessen). Utermann et al. (1984) observed defective activation of LCAT (606967) by the Giessen variant of apoA-I. Individuals with the P143R variant in the APOA1 gene have mildly reduced levels of HDL and decreased levels of the mutant protein (619836). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 APOLIPOPROTEIN A-I (MUNSTER3C)</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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APOA1, PRO3ARG
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<br />
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|
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SNP: rs121912720,
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gnomAD: rs121912720,
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|
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ClinVar: RCV000019503
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Using a simple and rapid method for the structural analysis of mutant apolipoproteins, von Eckardstein et al. (1989) demonstrated 3 variants in the mature apolipoprotein A-I polypeptide of 243 amino acids: pro3-to-arg (P3R), pro4-to-arg (107680.0008), and pro165-to-arg (107680.0009). All the variant carriers were heterozygous for the mutant. In the case of the pro3-to-arg mutant, the variant proapoA-I was present in increased concentrations as compared to the normal proapoA-I, suggesting that the interspecies-conserved proline residue in position 3 of mature apoA-I is functionally important for the enzymatic conversion of the proprotein to the mature protein. The pro165-to-arg variant was associated with lower levels of apoA-I and HDL cholesterol. The variant protein accounted for only 30% of the total apoA-I in plasma instead of the expected 50% (619836). </p><p>Breslow (1988) noted that the P3R mutation is designated apoA-I(Munster3C). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 APOLIPOPROTEIN A-I (MUNSTER3B)</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
APOA1, PRO4ARG
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<br />
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|
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SNP: rs121912721,
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|
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gnomAD: rs121912721,
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|
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ClinVar: RCV000019504, RCV001851952, RCV005042066
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>See 107680.0007 and von Eckardstein et al. (1989). </p><p>Breslow (1988) noted that the P4R mutation is designated apoA-I(Munster3B). </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 APOLIPOPROTEIN A-I DEFICIENCY</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
APOA1, PRO165ARG
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<br />
|
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|
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SNP: rs121912722,
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|
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gnomAD: rs121912722,
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|
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ClinVar: RCV000019505, RCV005089279
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Von Eckardstein et al. (1989) found that the pro165-to-arg (P165R) variant in the APOA1 gene was associated with lower levels of apoA-I and HDL cholesterol. The variant protein accounted for only 30% of the total apoA-I in plasma instead of the expected 50%. See 107680.0007. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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APOA1, GLY26ARG
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<br />
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SNP: rs28931574,
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gnomAD: rs28931574,
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ClinVar: RCV000019506, RCV003556050, RCV005003396
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family of English-Scottish-Irish extraction first reported by Van Allen et al. (1969) with amyloidosis referred to as the Iowa or Van Allen type (AMYLD3; 620657), Nichols et al. (1987, 1988) found that apolipoprotein A-I is a major constituent of the amyloid. In this condition, the apolipoprotein A-I protein was found to contain a substitution of glycine by arginine at position 26 (G26R). The mutation of arg for gly26 predicted a guanine-to-cytosine substitution as the nucleotide corresponding to the first base of codon 26 (GGC-to-CGC) of the APOA1 gene. Using PCR and direct sequencing, Nichols et al. (1989, 1990) confirmed the prediction on DNA extracted from paraffin-embedded tissues from 3 members of the kindred who died in the 1960s with amyloid neuropathy. Since the mutation does not alter the restriction pattern of the APOA1 gene, they used PCR with an arg26 allele-specific primer for detection of asymptomatic gene carriers. They demonstrated inheritance of the APOA1 variant through 3 generations of the Iowa kindred and confirmed its association with the development of systemic amyloidosis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0011 APOLIPOPROTEINS A-I AND C-III, COMBINED DEFICIENCY OF</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
HIGH DENSITY LIPOPROTEIN DEFICIENCY, DETROIT TYPE<br />
|
|
HDL DEFICIENCY, DETROIT TYPE
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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APOA1, APOA1/APOC3 FUSION
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<br />
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ClinVar: RCV000019509, RCV000019510
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Norum et al. (1980, 1982) studied 2 sisters, aged 30 and 25, with very low HDL and heart failure from coronary artery disease. Both had arcus cornealis, xanthelasmata and extensive infiltrative xanthoma of the neck and antecubital fossa, resembling somewhat the changes of pseudoxanthoma elasticum. The skin histology showed collections of lipid-laden histiocytes. Plasma cholesterol was 177 and 135 mg/dl; HDL cholesterol was 4 and 7 mg/dl. Only traces of apoprotein A-I were detected in whole plasma; in addition, apoprotein C-III was not detectable. The parents and children of the 2 women had low HDL cholesterol and apoA-I levels consistent with heterozygosity. Low levels of HDL cholesterol concentration have been associated with an increased frequency of coronary artery disease even when HDL is no less than 50% of normal (Miller and Miller, 1975). Heart failure without myocardial infarction is unusual in coronary atherosclerosis, especially in young women, suggesting small vessel disease. The patient of Gustafson et al. (1979), although clinically similar, differed by having high apoC-III rather than absent apoC-III. </p><p>Karathanasis et al. (1983) showed that the probands in the family of Norum et al. (1982) were both homozygous for a defect in the apoA-I locus, namely, an insertion in an intron. They could identify heterozygotes unequivocally. The parents had the same gene defect; they were not known to be related but both had ancestors of Scottish extraction who lived in the Appalachian mountain region of southeastern Kentucky. When McKusick saw the 2 sisters in 1983, he was impressed that the xanthomatosis of the neck and antecubital fossae simulated the changes of PXE (177850, 264800). The obligatory heterozygotes may be at increased risk of atherosclerosis. Norum and Alaupovic (1984) pointed out that although the only lesion demonstrated is the insertion in the apoA-I gene, the finding of reduced concentrations of both A-I and C-III in heterozygotes suggests that the apoC-III deficiency in the homozygotes is not secondary but due either to mutation also in the apoC-III gene or to an effect of the apoA-I gene on the cis apoC-III gene. Either hypothesis suggests linkage of the 2 loci. Norum (1983) suggested that the gene for apolipoprotein C-II may be in the same cluster on chromosome 11 because it, like C-III, was severely deficient in the 2 sisters. Karathanasis et al. (1983) studied the genomic sequences flanking the APOA1 gene and found that the APOC3 gene (see 107720) lies about 2.6 kb downstream of the 3-prime end of the APOA1 gene. They also showed that the 2 genes are 'convergently transcribed' and that the polymorphism reported by Rees et al. (1983) to be associated with hypertriglyceridemia may be due to a single basepair substitution in the 3-prime-noncoding region of apoC-III mRNA. Forte et al. (1984) cited evidence that the 6.5-kb insert in the APOA1 gene is deleted from its normal position in the promoter region for the closely linked APOC3 gene. Protter et al. (1984) isolated and characterized the APOC3 gene. The coding sequence was found to be interrupted by 3 introns. The authors compared it with the APOA1 gene and sequenced the DNA lying between the 2 genes. Karathanasis et al. (1986) studied the restriction pattern of the APOA4 gene in the sisters with combined apoA-I and apoC-III deficiency. Although apoA-IV had not been demonstrated in the plasma of these patients, the relatively high levels of plasma LCAT activity (40% of normal) and the possible involvement of apoA-IV in LCAT activation suggested that the APOA4 gene of these patients is functionally normal. Karathanasis et al. (1987) demonstrated that these patients had a rearrangement in the form of an inversion containing portions of the 3-prime ends of the APOA1 and APOC3 genes, including the DNA between these genes. The breakpoints were located within the fourth exon of the APOA1 gene and the first intron of the APOC3 gene. The fusion gene was expressed as a fusion mRNA. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0012 APOLIPOPROTEIN A-I, ABSENCE OF, DUE TO DELETION OF APOA1/APOC3/APOA4 GENE COMPLEX</strong>
|
|
</span>
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</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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APOA1, DEL
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<br />
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ClinVar: RCV000019512
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>Schaefer et al. (1982) studied the plasma lipids of a middle-aged woman who died following coronary artery bypass grafting for atherosclerotic narrowing of multiple arteries. She had markedly reduced high density lipoprotein, no detectable apolipoprotein A-I, normal A-II, and moderately reduced apolipoproteins B and C (see 620058). Both of her children, all 6 of her living sibs, and both parents had reduced apolipoprotein A-I and HDL levels and normal apolipoprotein A-II. Three of the sibs and their mother had coronary disease. The proband had corneal clouding due to diffuse lipid deposits in the epithelial cells; none of the heterozygotes had this finding. The condition in this family differs from Tangier disease (205400; analphalipoproteinemia) in the complete absence of apolipoprotein A-I and normal levels of A-II in the homozygote. Heterozygotes in this condition have reduced A-I only, whereas Tangier heterozygotes have reduced A-I and A-II. Consanguinity in this family, while likely on the basis of geographic isolation, was not proved. In the family reported by Schaefer et al. (1982), Ordovas et al. (1989) demonstrated that all of the APOA1/APOC3/APOA4 gene complex was deleted from a point about 3.1 kb 5-prime to the APOA1 gene to a point 3-prime to the APOA4 gene. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0013 APOLIPOPROTEIN A-I (BALTIMORE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, ARG10LEU
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<br />
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SNP: rs28929476,
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gnomAD: rs28929476,
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ClinVar: RCV000019513, RCV001508677, RCV005003397
|
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>Ladias et al. (1990) detected this variant, apoA-I (Baltimore), in a man with hypoalphalipoproteinemia who was under study for coronary artery disease. A G-to-T substitution in codon 34 of the third exon of the APOA1 gene resulted in an arg10-to-leu (R10L) substitution of mature apoA-I. (ApoA-I is synthesized in the liver and small intestine as a 267-residue preproapolipoprotein. The presegment, 18 amino acid residues long, is cleaved at the time of translation by a signal peptidase. The resulting proapoA-I contains a hexapeptide prosegment covalently linked to the NH(2) terminus of mature apoA-I; it is secreted into plasma and lymph and undergoes extracellular posttranslational cleavage to the mature 243-residue apoA-I.) The mutation changed a CG dinucleotide to CT and therefore was an exception to the CG-to-TG mutation rule, in which methylation/deamination of the C in the CpG dinucleotide results in a C-to-T substitution. The proband was heterozygous for the mutation. The variant was found in 8 members of the family but only 3 were affected (619836). </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0014 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, 1-BP DEL, CODON 202
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<br />
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ClinVar: RCV004555836
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Funke et al. (1991) studied an otherwise healthy 42-year-old man for massive corneal clouding that resembled that described in patients with fish-eye disease. There was no history in the patient or in his family of precocious coronary artery disease and no evidence of consanguinity; the parents came from different parts of Germany. Funke et al. (1991) identified a homozygous base deletion in the fourth exon of the APOA1 gene as the basic defect responsible for complete absence of HDL from the plasma and corneal opacities (618463). Heterozygous carriers of the base deletion showed approximately half-normal HDL cholesterol concentrations. A guanine residue from codon 202 was deleted, leading to frameshift and premature termination at amino acid 229. The proband's mother and all 3 of his children were heterozygous. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0015 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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|
APOA1, GLN84TER
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<br />
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|
|
SNP: rs121912723,
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|
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ClinVar: RCV004555837
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|
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|
|
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</span>
|
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</div>
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|
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<div>
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<span class="mim-text-font">
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|
<p>In a Japanese female patient with deficiency of APOA1 and premature atherosclerosis (618463), Matsunaga et al. (1991) demonstrated homozygosity for a nonsense mutation at codon 84 in exon 4 of the APOA1 gene: CAG-to-TAG, gln-to-stop. The patient was also homozygous for another mutation, ala37-to-thr (GCC-to-ACC) in exon 3; this mutation represented a polymorphism because it was found in other persons with normal levels of APOA1 and high density lipoprotein cholesterol. The patient's parents were first cousins. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
|
APOA1, LEU60ARG
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<br />
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|
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SNP: rs121912724,
|
|
|
|
|
|
|
|
ClinVar: RCV004555838
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an English family with autosomal dominant nonneuropathic systemic amyloidosis (AMYLD3; 620657), Soutar et al. (1992) identified a heterozygous T-to-G transversion in the APOA1 gene that resulted in a leu60-to-arg (L60R) substitution. Soutar et al. (1992) suggested that the systemic nonneuropathic form seen in their family is the same as the Iowa form (see 107680.0010), which in turn is the same as the Ostertag type. Indeed, the phenotype appears to be different from that originally described by Van Allen et al. (1969); in the Iowa family, neuropathy dominated the clinical picture early in the course and nephropathy late in the course. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
APOA1, GLN23TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906570,
|
|
|
|
|
|
|
|
ClinVar: RCV002514117, RCV004555839
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ng et al. (1994) discovered a novel mutation causing analphalipoprotein A-I deficiency (618463) in a Canadian kindred. The 34-year-old Caucasian proposita, the product of a consanguineous marriage, initially presented at the age of 30 years because of xanthelasmata. In the same year, the patient was diagnosed with bilateral cataracts requiring cataract extraction in the right eye. She also had bilateral subretinal lipid deposition with exudative proliferative retinopathy complicated by bilateral retinal detachments, which were treated surgically. She had a longstanding history of mild imbalance, i.e., unsteadiness. Examination showed mildly thickened Achilles tendons and mild midline cerebellar ataxia. One sister had had a mild myocardial infarction at age 34. Another sister with angina had cerebellar ataxia. High density lipoprotein cholesterol was very low and apoA-I was undetectable. Genomic DNA sequencing of the APOA1 gene identified homozygosity for a nonsense mutation at codon -2, which Ng et al. (1994) designated as Q(-2)X. The mutation was a C-to-T transition in exon 3, which transformed a codon at position -2 relative to the first amino acid of circulating mature apoA-I. The normal sequence at this position encodes glutamine, but the mutated codon encoded premature termination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, 1-BP INS, C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs753348565,
|
|
|
|
|
|
gnomAD: rs753348565,
|
|
|
|
|
|
ClinVar: RCV000599012, RCV004594084
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a Japanese family with primary intermediate hypoalphalipoproteinemia-2 (619836), Nakata et al. (1993) identified heterozygosity for an insertion of a single C in the run of 7 cytosines between codons 3 and 5 of the mature sequence of the APOA1 gene. The variant, designated APOA1-Tsukuba, resulted in a frameshift and a premature stop at codon 34. The proband, her mother, and maternal aunt had average plasma HDL-C and apoA-I levels of 50% and 53%, respectively, of those of controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, GLN32TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912725,
|
|
|
|
|
|
|
|
ClinVar: RCV004555840
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Romling et al. (1994) found homozygosity for a gln32-to-ter (Q32X) mutation in the APOA1 gene in a 31-year-old woman who presented with no signs of coronary artery or other atherosclerosis. She came from a large Sicilian family with no apparent increased prevalence of myocardial infarction. Among 8 sibs of the proband's heterozygous parents, 7 persons, aged 57 to 73, were alive and had no symptoms of atherosclerotic disease. The parents were first cousins. During her first pregnancy at age 22, the homozygous proband developed bilateral periorbital xanthelasmas, which did not progress after delivery. She had smoked 10 to 12 cigarettes per day since the age of 18 years. Heterozygotes showed half-normal plasma concentrations of HDL cholesterol and apoA-I. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, 12-BP DEL AND 2-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2134231440,
|
|
|
|
|
|
|
|
ClinVar: RCV004555841
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Spanish family with autosomal dominant nonneuropathic hereditary amyloidosis (AMYLD3; 620657), Booth et al. (1996) identified a novel heterozygous deletion/insertion mutation in exon 4 of the APOA1 gene. The mutation encoded loss of residues 60 through 71 of the normal mature APOA1 and insertion at that position of 2 new residues, valine and threonine. Affected individuals had a unique hepatic presentation and death from liver failure usually by the sixth decade. Affected individuals had both normal APOA1 and variant molecules bearing 1 extra positive charge, as predicted from the DNA sequence. The amyloid fibrils were composed exclusively of N-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wildtype sequence. Amyloid fibrils derived from the other 3 known amyloidogenic APOA1 variants (107680.0010, 107680.0016, and 107680.0021) are composed of similar N-terminal fragments. All known amyloidogenic APOA1 variants carry 1 extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this was the first deletion mutation to be described in association with hereditary amyloidosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, TRP50ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912726,
|
|
|
|
|
|
|
|
ClinVar: RCV003556051, RCV004555842
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man, the child of Ashkenazi Jewish parents, with hereditary nonneuropathic amyloidosis (AMYLD3; 620657), Booth et al. (1995) detected a heterozygous T-to-C transition in the APOA1 gene that resulted in a trp50-to-arg amino acid substitution (W50R). The man's father had died at the age of 45 years with massive hepatic and renal amyloidosis confirmed histologically. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, VAL156GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912727,
|
|
|
|
|
|
|
|
ClinVar: RCV004555843
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 67-year-old Japanese male with corneal opacities, coronary artery disease, and less than 10% of normal APOA1 and HDL cholesterol levels (618463), Huang et al. (1998) found a homozygous mutation in the APOA1 gene. A T-to-A substitution at nucleotide 1762 in exon 4 resulted in a val-to-glu substitution at codon 156. Lecithin:cholesterol acyltransferase activity and cholesterol esterification were less than 40% of normal control values. The proband's elder brother, also homozygous for the mutation, had reduced APOA1 and HDL levels but no clinical evidence of coronary artery disease. The heterozygous son of the proband showed nearly 60% of normal APOA1 and normal HDL cholesterol levels. The position of this and other mutations led the authors to conclude that residues 143-164 are important in APOA1 function, particularly LCAT activation. </p><p>This mutation has been designated apolipoprotein A-I (Oita).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, IVS2, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2134233729,
|
|
|
|
|
|
|
|
ClinVar: RCV000019523
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of 4 mutations in the APOA1 gene found by Yamakawa-Kobayashi et al. (1999) as the cause of primary hypoalphalipoproteinemia (618463) was a donor splice site mutation in intron 2, changing the canonical +1 from G to C. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOA1, LEU90PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28931575,
|
|
|
|
|
|
|
|
ClinVar: RCV004555844
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
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<span class="mim-text-font">
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<p>In a 60-year-old woman with cutaneous and cardiac amyloidosis (AMYLD3; 620657), Hamidi Asl et al. (1999) identified a heterozygous c.1389T-C transition in exon 4 of the APOA1 gene, resulting in a leu90-to-pro (L90P) substitution. The woman was the propositus of a kindred with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade. The predicted L90P substitution was confirmed by structural analysis of amyloid protein isolated from cardiac deposits of amyloid. The subunit protein was composed exclusively of NH2-terminal fragments of the variant APOA1 with the longest ending at residue 94 in the wildtype sequence. Amyloid fibrils derived from 4 previously described APOA1 variants were composed of similar fragments with carboxy-terminal heterogeneity, but contrary to those variants, which all carry one extra positive charge, the leu90-to-pro substitution did not result in any charge modification. The authors considered it unlikely, therefore, that amyloid fibril formation is related to change of charge for a specific residue of the precursor protein. This is in agreement with studies on transthyretin amyloidosis in which no unifying factor, such as change of charge for amino acid residues, has been noted. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0025 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, ARG173PRO
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<br />
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SNP: rs387906571,
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ClinVar: RCV004555845
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 6 affected members of an American kindred in which hereditary amyloidosis (AMYLD3; 620657) showed expression mainly in the skin and heart, Hamidi Asl et al. (1999) identified a heterozygous c.1638G-C transversion in exon 4 of the APOA1 gene, resulting in an arg173-to-pro (R173P) substitution. This mutation, unlike previously described amyloidogenic mutations, was not in the N-terminal fragment which is incorporated into the fibril. The mutation was at the same residue as in APOA1-Milano (107680.0001), which has an arg173-to-cys substitution but does not result in amyloid formation. Decreased plasma HDL cholesterol levels in carriers of the arg173-to-pro mutation suggested an increased rate of catabolism, as has been shown for the amyloidogenic gly26-to-arg mutation (107680.0010). This suggests that altered metabolism caused by the mutation may be a significant factor in apolipoprotein A-1 fibrillogenesis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0026 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, LEU174SER
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<br />
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SNP: rs121912729,
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ClinVar: RCV004555846
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 48-year-old man and his uncle from central Italy with systemic nonneuropathic amyloidosis (AMYLD3; 620657), Obici et al. (1999) identified a c.2069T-C in exon 4 of the APOA1 gene, resulting in a leu174-to-ser (L174S) substitution. The mutation was not identified in 3 unaffected sibs of the proband. The proband was affected by amyloid deposits mainly in the heart, requiring transplantation for end-stage congestive heart failure. Plasma levels of high-density lipoprotein and of apoA-I were significantly lower in the patient than in unaffected individuals. The authors stated that this represents the first case of familial apoA-I amyloidosis in which the mutation occurred outside the polypeptide fragment deposited as fibrils. In the 3-dimensional structure of lipid-free apoA-I, composed of 4 identical polypeptide chains, position 174 of one chain was located near position 93 of an adjacent chain, suggesting that the amino acid replacement at position 174 was permissive for a proteolytic split at the C-terminal of val93. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0027 AMYLOIDOSIS, HEREDITARY SYSTEMIC 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, ALA175PRO
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<br />
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SNP: rs121912730,
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gnomAD: rs121912730,
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ClinVar: RCV004555847
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an English man (patient 16) with amyloidosis (AMYLD3; 620657) who presented at age 35 years with renal failure, Lachmann et al. (2002) identified heterozygosity for an ala175-to-pro (A175P) substitution in apolipoprotein A-1. The man was among 350 patients thought to have systemic amyloidosis of the acquired monoclonal immunoglobulin light-chain (AL) type (see 254500) because of the absence of family history. In addition to renal failure, he had hoarseness due to laryngeal amyloid deposits, a feature that commonly occurs in localized AL amyloidosis and that had also been reported in patients with mutations disrupting this particular region of the apolipoprotein A-1 molecule (e.g., Hamidi Asl et al., 1999). He was also reported to have sterility. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0028 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, GLU136TER
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<br />
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ClinVar: RCV004555928
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Dastani et al. (2006) studied 54 unrelated French Canadian patients with severe high-density lipoprotein cholesterol (HDL-C) deficiency (619836). Direct sequencing revealed a novel heterozygous APOA1 mutation (E136X) in 3 probands. The mutation was confirmed by MaeI endonuclease digestion. Two of the kindreds were examined (62 subjects) and the E136X mutation was detected in 14 additional individuals. All had a HDL-C level less than the 5th percentile for age- and gender-matched subjects and mild to moderate hypertriglyceridemia. Premature coronary artery disease was documented in probands 1 and 2 and in 3 additional family members. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0029 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOA1, VAL43LEU
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<br />
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SNP: rs373545875,
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gnomAD: rs373545875,
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ClinVar: RCV001108697, RCV001108698, RCV004556829
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its effect on HDL-C levels has not been confirmed.</p><p>Using whole-exome sequencing in 2,636 Icelanders, Helgadottir et al. (2016) identified sequence variants and subsequently examined the variants for association with non-HDL-C, HDL-C, LDL-C, and triglycerides in up to 119,147 Icelanders. One of the novel variants associated with an increase in HDL-C was a C-to-G transversion in the APOA1 gene (chr11.116837074C-G, GRCh38), resulting in a val43-to-leu (V43L) substitution. In Iceland, the variant was found to have a prevalence of 0.7% and to be associated with an increase of HDL-C levels by 0.17 mmol/l (p = 4.5 x 10(-22)) and a similar decrease of non-HDL-C levels (p = 2.5 x 10(-4)). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Breslow et al. (1983); Cohen et al. (1986); Daniels et al. (1982);
|
|
Frossard et al. (1986); Ginsberg et al. (1986); Glueck et al. (1982);
|
|
Karathanasis et al. (1983); Karathanasis et al. (1983); Law and
|
|
Brewer (1984); Law et al. (1984); Law et al. (1983); O'Donnell and
|
|
Lusis (1983); Schroeder and Saunders (1987); Stocks et al. (1987);
|
|
Third et al. (1984); Vergani and Bettale (1981)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Ajees, A. A., Anantharamaiah, G. M., Mishra, V. K., Hussain, M. M., Murthy, H. M. K.
|
|
<strong>Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 2126-2131, 2006. Note: Editorial Expression of Concern: Proc. Nat. Acad. Sci. 107: 6551 only, 2010. Retraction: Proc. Nat. Acad. Sci. 115: E6966, 2018.
|
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[PubMed: 16452169]
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[Full Text: https://doi.org/10.1073/pnas.0506877103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Antonarakis, S. E., Oettgen, P., Chakravarti, A., Halloran, S. L., Hudson, R. R., Feisee, L., Karathanasis, S. K.
|
|
<strong>DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.</strong>
|
|
Hum. Genet. 80: 265-273, 1988.
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|
|
[PubMed: 2903847]
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[Full Text: https://doi.org/10.1007/BF01790095]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Arinami, T., Hirano, T., Kobayashi, K., Yamanouchi, Y., Hamaguchi, H.
|
|
<strong>Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3-qter).</strong>
|
|
Hum. Genet. 85: 39-40, 1990.
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|
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|
|
[PubMed: 1972696]
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[Full Text: https://doi.org/10.1007/BF00276323]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Booth, D. R., Tan, S. Y., Booth, S. E., Hsuan, J. J., Totty, N. F., Nguyen, O., Hutton, T., Vigushin, D. M., Tennent, G. A., Hutchinson, W. L.
|
|
<strong>A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.</strong>
|
|
Quart. J. Med. 88: 695-702, 1995.
|
|
|
|
|
|
[PubMed: 7493166]
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|
|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Booth, D. R., Tan, S-Y., Booth, S. E., Tennent, G. A., Hutchinson, W. L., Hsuan, J. J., Totty, N. F., Truong, O., Soutar, A. K., Hawkins, P. N., Bruguera, M., Caballeria, J., Sole, M., Campistol, J. M., Pepys, M. B.
|
|
<strong>Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein A1 gene.</strong>
|
|
J. Clin. Invest. 97: 2714-2721, 1996.
|
|
|
|
|
|
[PubMed: 8675681]
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|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118725]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Botstein, D., White, R., Skolnick, M., Davis, R.
|
|
<strong>Construction of a genetic linkage map in man using restriction fragment length polymorphism.</strong>
|
|
Am. J. Hum. Genet. 32: 314-331, 1980.
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|
|
[PubMed: 6247908]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Breslow, J. L., Karathanasis, S., Norum, R., Zannis, V. I.
|
|
<strong>APO A-I deficiency and premature atherosclerosis associated with an insertion in the APO A-I gene. (Abstract)</strong>
|
|
Pediat. Res. 17: 208A only, 1983.
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Breslow, J. L., Ross, D., McPherson, J., Williams, H., Kurnit, D., Nussbaum, A. L., Karathanasis, S. K., Zannis, V. I.
|
|
<strong>Isolation and characterization of cDNA clones for human apolipoprotein A-I.</strong>
|
|
Proc. Nat. Acad. Sci. 79: 6861-6865, 1982.
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|
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|
|
[PubMed: 6294659]
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[Full Text: https://doi.org/10.1073/pnas.79.22.6861]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Breslow, J. L.
|
|
<strong>Apolipoprotein genetic variation and human disease.</strong>
|
|
Physiol. Rev. 68: 85-132, 1988.
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|
|
|
|
|
[PubMed: 2892216]
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[Full Text: https://doi.org/10.1152/physrev.1988.68.1.85]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brewer, H. B., Jr., Fairwell, T., LaRue, A., Ronan, R., Houser, A., Bronzert, T. J.
|
|
<strong>The amino acid sequence of human apoA-I, an apolipoprotein isolated from high density lipoproteins.</strong>
|
|
Biochem. Biophys. Res. Commun. 80: 623-630, 1978.
|
|
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|
|
[PubMed: 204308]
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|
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[Full Text: https://doi.org/10.1016/0006-291x(78)91614-5]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bruns, G. A. P., Karathanasis, S. K., Breslow, J. L.
|
|
<strong>Human apolipoprotein A-I-C-III gene complex is located on chromosome 11.</strong>
|
|
Arteriosclerosis 4: 97-102, 1984.
|
|
|
|
|
|
[PubMed: 6422919]
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|
|
[Full Text: https://doi.org/10.1161/01.atv.4.2.97]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Buraczynska, M., Hanzlik, J., Grzywa, M.
|
|
<strong>Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.</strong>
|
|
Am. J. Hum. Genet. 37: 1129-1137, 1985.
|
|
|
|
|
|
[PubMed: 3936351]
|
|
|
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Cheung, P., Kao, F.-T., Law, M. L., Jones, C., Puck, T. T., Chan, L.
|
|
<strong>Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 508-511, 1984.
|
|
|
|
|
|
[PubMed: 6420790]
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|
|
[Full Text: https://doi.org/10.1073/pnas.81.2.508]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cohen, T., Karathanasis, S. K., Kazazian, H. H., Jr., Antonarakis, S. E.
|
|
<strong>DNA polymorphic sites in the human apoAI-CIII-AIV cluster: Taq I and Ava I.</strong>
|
|
Nucleic Acids Res. 14: 1924, 1986.
|
|
|
|
|
|
[PubMed: 3005989]
|
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|
|
[Full Text: https://doi.org/10.1093/nar/14.4.1924]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dallinga-Thie, G. M., van Linde-Sibenius Trip, M., Rotter, J. I., Cantor, R. M., Bu, X., Lusis, A. J., de Bruin, T. W. A.
|
|
<strong>Complex c genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia: identification of different susceptibility haplotypes.</strong>
|
|
J. Clin. Invest. 99: 953-961, 1997.
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|
|
[PubMed: 9062353]
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|
|
[Full Text: https://doi.org/10.1172/JCI119260]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Daniels, S. R., Bates, S., Lukin, R. R., Benton, C., Third, J., Glueck, C. J.
|
|
<strong>Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.</strong>
|
|
Stroke 13: 360-365, 1982.
|
|
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|
|
[PubMed: 7080131]
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|
[Full Text: https://doi.org/10.1161/01.str.13.3.360]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dastani, Z., Dangoisse, C., Boucher, B., Desbiens, K., Krimbou, L., Dufour, R., Hegele, R. A., Pajukanta, P., Engert, J. C., Genest, J., Marcil, M.
|
|
<strong>A novel nonsense apolipoprotein A-I mutation (apoA-I-E136X) causes low HDL cholesterol in French Canadians.</strong>
|
|
Atherosclerosis 185: 127-136, 2006.
|
|
|
|
|
|
[PubMed: 16023124]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.atherosclerosis.2005.05.028]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dayhoff, M. O.
|
|
<strong>Atlas of Protein Sequence and Structure. Vol. 5. Suppl. 2.</strong>
|
|
Washington, D. C.: National Biomedical Research Foundation (pub.) 1976.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferns, G. A. A., Shelley, C. S., Stocks, J., Rees, A., Paul, H., Baralle, F., Galton, D. J.
|
|
<strong>A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.</strong>
|
|
Hum. Genet. 74: 302-306, 1986.
|
|
|
|
|
|
[PubMed: 2877939]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00282553]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferns, G. A. A., Stocks, J., Ritchie, C., Galton, D. J.
|
|
<strong>Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.</strong>
|
|
Lancet 326: 300-303, 1985. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 2862468]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(85)90350-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Forte, T. M., Nichols, A. V., Krauss, R. M., Norum, R. A.
|
|
<strong>Familial apolipoprotein A-I and apolipoprotein C-III deficiency: subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis.</strong>
|
|
J. Clin. Invest. 74: 1601-1613, 1984.
|
|
|
|
|
|
[PubMed: 6501564]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111576]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Franceschini, G., Sirtori, C. R., Capurso, A., II, Weisgraber, K. H., Mahley, R. W.
|
|
<strong>A-I (Milano) apoprotein: decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.</strong>
|
|
J. Clin. Invest. 66: 892-900, 1980.
|
|
|
|
|
|
[PubMed: 7430351]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109956]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frossard, P. M., Coleman, R., Funke, H., Assman, G.
|
|
<strong>ApaI RFLP 5.4 kb 5-prime to the human apolipoprotein AI (APO A1) gene.</strong>
|
|
Nucleic Acids Res. 14: 1922, 1986.
|
|
|
|
|
|
[PubMed: 3005987]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/14.4.1922]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Funke, H., von Eckardstein, A., Pritchard, P. H., Karas, M., Albers, J. J., Assmann, G.
|
|
<strong>A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin:cholesterol-acyltransferase deficiency, and corneal opacities.</strong>
|
|
J. Clin. Invest. 87: 371-376, 1991.
|
|
|
|
|
|
[PubMed: 1898657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114997]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Genschel, J., Haas, R., Propsting, M. J., Schmidt, H. H.-J.
|
|
<strong>Apolipoprotein A-I induced amyloidosis.</strong>
|
|
FEBS Lett. 430: 145-149, 1998.
|
|
|
|
|
|
[PubMed: 9688527]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0014-5793(98)00668-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ginsberg, H. N., Le, N.-A., Goldberg, I. J., Gibson, J. C., Rubinstein, A., Wang-Iverson, P., Norum, R., Brown, W. V.
|
|
<strong>Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI: evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.</strong>
|
|
J. Clin. Invest. 78: 1287-1295, 1986.
|
|
|
|
|
|
[PubMed: 3095375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112713]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glueck, C. J., Daniels, S. R., Bates, S., Benton, C., Tracy, T., Third, J. L. H. C.
|
|
<strong>Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.</strong>
|
|
Pediatrics 69: 308-316, 1982.
|
|
|
|
|
|
[PubMed: 6977760]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gualandri, V., Franceschini, G., Sirtori, C. R., Gianfranceschi, G., Orsini, G. B., Cerrone, A., Menotti, A.
|
|
<strong>AI(Milano) apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.</strong>
|
|
Am. J. Hum. Genet. 37: 1083-1097, 1985.
|
|
|
|
|
|
[PubMed: 3936350]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gustafson, A., McConathy, W. J., Alaupovic, P., Curry, M. D., Persson, B.
|
|
<strong>Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.</strong>
|
|
Scand. J. Clin. Lab. Invest. 39: 377-387, 1979.
|
|
|
|
|
|
[PubMed: 230573]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/00365517909106122]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haddad, I. A., Ordovas, J. M., Fitzpatrick, T., Karathanasis, S. K.
|
|
<strong>Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.</strong>
|
|
J. Biol. Chem. 261: 13268-13277, 1986.
|
|
|
|
|
|
[PubMed: 3020028]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Halley, P., Kadakkuzha, B. M., Faghihi, M. A., Magistri, M., Zeier, Z., Khorkova, O., Coito, C., Hsiao, J., Lawrence, M., Wahlestedt, C.
|
|
<strong>Regulation of the apolipoprotein gene cluster by a long noncoding RNA.</strong>
|
|
Cell Rep. 6: 222-230, 2014.
|
|
|
|
|
|
[PubMed: 24388749]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.celrep.2013.12.015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamidi Asl, K.., Liepnieks, J. J., Nakamura, M., Parker, F., Benson, M. D.
|
|
<strong>A novel apolipoprotein A-1 variant, arg173 to pro, associated with cardiac and cutaneous amyloidosis.</strong>
|
|
Biochem. Biophys. Res. Commun. 257: 584-588, 1999.
|
|
|
|
|
|
[PubMed: 10198255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1999.0518]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamidi Asl, L., Liepnieks, J. J., Hamidi Asl, K., Uemichi, T., Moulin, G., Desjoyaux, E., Loire, R., Delpech, M., Grateau, G., Benson, M. D.
|
|
<strong>Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.</strong>
|
|
Am. J. Path. 154: 221-227, 1999.
|
|
|
|
|
|
[PubMed: 9916936]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/S0002-9440(10)65268-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayden, M. R., Kirk, H., Clark, C., Frohlich, J., Rabkin, S., McLeod, R., Hewitt, J.
|
|
<strong>DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.</strong>
|
|
Am. J. Hum. Genet. 40: 421-430, 1987.
|
|
|
|
|
|
[PubMed: 2883893]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Helgadottir, A., Gretarsdottir, S., Thorleifsson, G, Hjartarson, E., Sigurdsson, A., Magnusdottir, A., Jonasdottir, A., Kristjansson, H., Sulem, P., Oddsson, A., Sveinbjornsson, G, Steinthorsdottir, V., Rafnar, T., Masson, G., Jonsdottir, I., Olafsson, I., and 17 others.
|
|
<strong>Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.</strong>
|
|
Nature Genet. 48: 634-639, 2016.
|
|
|
|
|
|
[PubMed: 27135400]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.3561]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hiasa, Y., Maeda, T., Mori, H.
|
|
<strong>Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease.</strong>
|
|
Clin. Cardiol. 9: 349-352, 1986.
|
|
|
|
|
|
[PubMed: 3089658]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/clc.4960090709]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, W., Sasaki, J., Matsunaga, A., Nanimatsu, H., Moriyama, K., Han, H., Kugi, M., Koga, T., Yamaguchi, K., Arakawa, K.
|
|
<strong>A novel homozygous missense mutation in the Apo A-I gene with Apo A-I deficiency.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 18: 389-396, 1998.
|
|
|
|
|
|
[PubMed: 9514407]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.18.3.389]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Ferris, E., Haddad, I. A.
|
|
<strong>DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 7198-7202, 1987.
|
|
|
|
|
|
[PubMed: 3118360]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.84.20.7198]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., McPherson, J., Zannis, V. I., Breslow, J. L.
|
|
<strong>Linkage of human apolipoproteins A-I and C-III genes.</strong>
|
|
Nature 304: 371-373, 1983.
|
|
|
|
|
|
[PubMed: 6308458]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/304371a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Norum, R. A., Zannis, V. I., Breslow, J. L.
|
|
<strong>An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis.</strong>
|
|
Nature 301: 718-720, 1983.
|
|
|
|
|
|
[PubMed: 6402711]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/301718a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Oettgen, P., Haddad, I. A., Antonarakis, S. E.
|
|
<strong>Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).</strong>
|
|
Proc. Nat. Acad. Sci. 83: 8457-8461, 1986.
|
|
|
|
|
|
[PubMed: 3095836]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.22.8457]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karathanasis, S. K., Zannis, V. I., Breslow, J. L.
|
|
<strong>Isolation and characterization of the human apolipoprotein A-I gene.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 6147-6151, 1983.
|
|
|
|
|
|
[PubMed: 6413973]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.80.20.6147]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kessling, A. M., Horsthemke, B., Humphries, S. E.
|
|
<strong>A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals.</strong>
|
|
Clin. Genet. 28: 296-306, 1985.
|
|
|
|
|
|
[PubMed: 2998654]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00403.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kessling, A. M., Rajput-Wiliams, J., Bainton, D., Scott, J., Miller, N. E., Baker, I., Humphries, S. E.
|
|
<strong>DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.</strong>
|
|
Am. J. Hum. Genet. 42: 458-467, 1988.
|
|
|
|
|
|
[PubMed: 2894758]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lachmann, H. J., Booth, D. R., Booth, S. E., Bybee, A., Gilbertson, J. A., Gillmore, J. D., Pepys, M. B., Hawkins, P. N.
|
|
<strong>Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.</strong>
|
|
New Eng. J. Med. 346: 1786-1791, 2002.
|
|
|
|
|
|
[PubMed: 12050338]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa013354]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ladias, J. A. A., Kwiterovich, P. O., Jr., Smith, H. H., Karathanasis, S. K., Antonarakis, S. E.
|
|
<strong>Apolipoprotein A1 Baltimore (arg(10)-to-leu), a new APOA1 variant.</strong>
|
|
Hum. Genet. 84: 439-445, 1990.
|
|
|
|
|
|
[PubMed: 2108924]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00195816]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Brewer, H. B., Jr.
|
|
<strong>Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 66-70, 1984.
|
|
|
|
|
|
[PubMed: 6198645]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.81.1.66]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr., Naylor, S. L., Sakaguchi, A. Y.
|
|
<strong>Human apo A-I gene resides in the p11-q13 region of chromosome 11. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 520 only, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr., Sakaguchi, A. Y., Naylor, S. L.
|
|
<strong>Human apolipoprotein A-I and C-III genes reside in the p11-q13 region of chromosome 11.</strong>
|
|
Biochem. Biophys. Res. Commun. 118: 934-942, 1984.
|
|
|
|
|
|
[PubMed: 6422932]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(84)91485-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Gray, G., Brewer, H. B., Jr.
|
|
<strong>cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.</strong>
|
|
Biochem. Biophys. Res. Commun. 112: 257-264, 1983.
|
|
|
|
|
|
[PubMed: 6404278]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(83)91824-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Owens, J., Fairwell, T., Czarnecki, S., Brewer, H. B., Jr.
|
|
<strong>cDNA cloning of human apolipoprotein A-I, the major apolipoprotein of high density lipoproteins. (Abstract)</strong>
|
|
Clin. Res. 31: 290A only, 1983.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lusis, A. J., Taylor, B. A., Wagenstein, R. W., LeBoeuf, R. C.
|
|
<strong>Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.</strong>
|
|
J. Biol. Chem. 258: 5071-5078, 1983.
|
|
|
|
|
|
[PubMed: 6403543]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martinez, L. O., Jacquet, S., Esteve, J.-P., Rolland, C., Cabezon, E., Champagne, E., Pineau, T., Georgeaud, V., Walker, J. E., Terce, F., Collet, X., Perret, B., Barbaras, R.
|
|
<strong>Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.</strong>
|
|
Nature 421: 75-79, 2003.
|
|
|
|
|
|
[PubMed: 12511957]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature01250]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsunaga, T., Hiasa, Y., Yanagi, H., Maeda, T., Hattori, N., Yamakawa, K., Yamanouchi, Y., Tanaka, I., Obara, T., Hamaguchi, H.
|
|
<strong>Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 2793-2797, 1991.
|
|
|
|
|
|
[PubMed: 1901417]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.88.7.2793]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miller, C. J., Miller, N. E.
|
|
<strong>Plasma high density lipoprotein concentration and development of ischaemic heart disease.</strong>
|
|
Lancet 305: 16-19, 1975. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 46338]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(75)92376-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naganawa, S., Ginsberg, H. N., Glickman, R. M., Ginsburg, G. S.
|
|
<strong>Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.</strong>
|
|
J. Clin. Invest. 99: 1958-1965, 1997.
|
|
|
|
|
|
[PubMed: 9109440]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI119363]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakata, K., Kobayashi, K., Yanagi, H., Shimakura, Y., Tsuchiya, S., Arinami, T., Hamaguchi, H.
|
|
<strong>Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 196: 950-955, 1993.
|
|
|
|
|
|
[PubMed: 8240372]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1993.2341]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ng, D. S., Leiter, L. A., Vezina, C., Connelly, P. W., Hegele, R. A.
|
|
<strong>Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.</strong>
|
|
J. Clin. Invest. 93: 223-229, 1994.
|
|
|
|
|
|
[PubMed: 8282791]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116949]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Dwulet, F. E., Benson, M. D.
|
|
<strong>Apolipoprotein AI in Iowa type hereditary amyloidosis (FAP type IV). (Abstract)</strong>
|
|
Clin. Res. 35: 595A only, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Dwulet, F. E., Liepnieks, J., Benson, M. D.
|
|
<strong>Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.</strong>
|
|
Biochem. Biophys. Res. Commun. 156: 762-768, 1988.
|
|
|
|
|
|
[PubMed: 3142462]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(88)80909-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Gregg, R. E., Brewer, H. B., Benson, M. D.
|
|
<strong>Characterization of the gene for familial amyloidotic polyneuropathy (FAP III/Iowa) and genotyping by allele-specific PCR. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A210 only, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nichols, W. C., Gregg, R. E., Brewer, H. B., Jr., Benson, M. D.
|
|
<strong>A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.</strong>
|
|
Genomics 8: 318-323, 1990.
|
|
|
|
|
|
[PubMed: 2123470]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90288-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nissen, S. E., Tsunoda, T., Tuzcu, E. M., Schoenhagen, P., Cooper, C. J., Yasin, M., Eaton, G. M., Lauer, M. A., Sheldon, W. S., Grines, C. L., Halpern, S., Crowe, T., Blankenship, J. C., Kerensky, R.
|
|
<strong>Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.</strong>
|
|
JAMA 290: 2292-2300, 2003.
|
|
|
|
|
|
[PubMed: 14600188]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/jama.290.17.2292]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Alaupovic, P.
|
|
<strong>Linkage between loci for apolipoproteins A-I (APOA1) and C-III (APOC3). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 556 only, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Lakier, J. B., Goldstein, S., Angel, A., Goldberg, R. B., Block, W. D., Noffze, D. K., Dolphin, P. J., Edelglass, J., Bogorad, D. D., Alaupovic, P.
|
|
<strong>Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease.</strong>
|
|
New Eng. J. Med. 306: 1513-1519, 1982.
|
|
|
|
|
|
[PubMed: 7078608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198206243062503]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norum, R. A., Lakier, J. B., Goldstein, S., Rutt, W. M., Morales, A., Block, W. D.
|
|
<strong>High density lipoprotein deficiency and coronary artery disease in sisters: an autosomal recessive trait. (Abstract)</strong>
|
|
Clin. Res. 28: 471A only, 1980.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norum, R. A.
|
|
<strong>Personal Communication.</strong>
|
|
Detroit, Mich. 8/26/1983.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Donnell, K. A., Lusis, A. J.
|
|
<strong>Genetic evidence that the multiple apolipoprotein A-I isoforms are encoded by a common structural gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 114: 275-281, 1983.
|
|
|
|
|
|
[PubMed: 6411081]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(83)91624-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Obici, L., Bellotti, V., Mangione, P., Stoppini, M., Arbustini, E., Verga, L., Zorzoli, I., Anesi, E., Zanotti, G., Campana, C., Vigano, M., Merlini, G.
|
|
<strong>The new apolipoprotein A-I variant leu174-to-ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.</strong>
|
|
Am. J. Path. 155: 695-702, 1999.
|
|
|
|
|
|
[PubMed: 10487826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/S0002-9440(10)65167-X]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ordovas, J. M., Cassidy, D. K., Civeira, F., Bisgaier, C. L., Schaefer, E. J.
|
|
<strong>Familial apolipoprotein A-I, C-III and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11.</strong>
|
|
J. Biol. Chem. 264: 16339-16342, 1989.
|
|
|
|
|
|
[PubMed: 2506176]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ordovas, J. M., Schaefer, E. J., Salem, D., Ward, R. H., Glueck, C. J., Vergani, C., Wilson, P. W. F., Karathanasis, S. K.
|
|
<strong>Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.</strong>
|
|
New Eng. J. Med. 314: 671-677, 1986.
|
|
|
|
|
|
[PubMed: 3081805]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198603133141102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearson, P. L.
|
|
<strong>Personal Communication.</strong>
|
|
Leiden, The Netherlands 9/1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Plump, A. S., Erickson, S. K., Weng, W., Partin, J. S., Breslow, J. L., Williams, D. L.
|
|
<strong>Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.</strong>
|
|
J. Clin. Invest. 97: 2660-2671, 1996.
|
|
|
|
|
|
[PubMed: 8647961]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118716]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Levy-Wilson, B., Miller, J., Bencen, G., White, T., Seilhamer, J. J.
|
|
<strong>Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the Apo AI and Apo CIII genes.</strong>
|
|
DNA 3: 449-456, 1984.
|
|
|
|
|
|
[PubMed: 6439535]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1089/dna.1.1984.3.449]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rader, D. J., deGoma, E. J.
|
|
<strong>Approach to the patient with extremely low HDL-cholesterol.</strong>
|
|
J. Clin. Endocr. Metab. 97: 3399-4407, 2012.
|
|
|
|
|
|
[PubMed: 23043194]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2012-2185]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W., Ogawa, Y., Fielding, C. J., Utermann, G., Haas, J., Steinmetz, A., Menzel, H. J., Assmann, G.
|
|
<strong>Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.</strong>
|
|
J. Biol. Chem. 259: 10063-10070, 1984.
|
|
|
|
|
|
[PubMed: 6432779]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rall, S. C., Weisgraber, K. H., Mahley, R. W., Ehnholm, C., Schamaun, O., Olaisen, B., Blomhoff, J. P., Teisberg, P.
|
|
<strong>Identification of homozygosity for a human apolipoprotein A-I variant.</strong>
|
|
J. Lipid Res. 27: 436-441, 1986.
|
|
|
|
|
|
[PubMed: 3723016]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rees, A., Shoulders, C. C., Stocks, J., Galton, D. J., Baralle, F. E.
|
|
<strong>DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.</strong>
|
|
Lancet 321: 444-446, 1983. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 6131168]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(83)91440-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rees, A., Stocks, J., Paul, H., Ohuchi, Y., Galton, D.
|
|
<strong>Haplotypes identified by DNA polymorphisms at the apolipoprotein A-I and C-III loci and hypertriglyceridaemia: a study in a Japanese population.</strong>
|
|
Hum. Genet. 72: 168-171, 1986.
|
|
|
|
|
|
[PubMed: 3080367]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00283939]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rees, A., Stocks, J., Sharpe, C. R., Vella, M. A., Shoulders, C. C., Katz, J., Jowett, N. I., Baralle, F. E., Galton, D. J.
|
|
<strong>Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C-III gene cluster: association with hypertriglyceridemia.</strong>
|
|
J. Clin. Invest. 76: 1090-1095, 1985.
|
|
|
|
|
|
[PubMed: 2995445]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112062]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Romling, R., von Eckardstein, A., Funke, H., Motti, C., Fragiacomo, G. C., Noseda, G., Assmann, G.
|
|
<strong>A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.</strong>
|
|
Arterioscler. Thromb. 14: 1915-1922, 1994.
|
|
|
|
|
|
[PubMed: 7981179]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.14.12.1915]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sadaf, A., Siddiqui, S., Lestringant, G. G., Frossard, P. M.
|
|
<strong>Apolipoprotein AI promoter variant in blood pressure determination. (Letter)</strong>
|
|
Clin. Genet. 61: 314-316, 2002.
|
|
|
|
|
|
[PubMed: 12030900]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610414.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Anthanont, P., Diffenderfer, M. R., Polisecki, E., Asztalos, B. F.
|
|
<strong>Diagnosis and treatment of high density lipoprotein deficiency.</strong>
|
|
Prog. Cardiovasc. Dis. 59: 97-106, 2016.
|
|
|
|
|
|
[PubMed: 27565770]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.pcad.2016.08.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Heaton, W. H., Wetzel, M. G., Brewer, H. B., Jr.
|
|
<strong>Plasma apolipoprotein A-I, absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.</strong>
|
|
Arteriosclerosis 2: 16-26, 1982.
|
|
|
|
|
|
[PubMed: 6800349]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.2.1.16]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaefer, E. J., Santos, R. D., Asztalos, B. F.
|
|
<strong>Marked HDL deficiency and premature coronary heart disease.</strong>
|
|
Curr. Opin. Lipid. 21: 289-297, 2010.
|
|
|
|
|
|
[PubMed: 20616715]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MOL.0b013e32833c1ef6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schamaun, O., Olaisen, B., Gedde-Dahl, T., Jr., Teisberg, P.
|
|
<strong>Genetic studies of an apoA-I lipoprotein variant.</strong>
|
|
Hum. Genet. 64: 380-383, 1983.
|
|
|
|
|
|
[PubMed: 6413385]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00292371]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schroeder, W. T., Saunders, G. F.
|
|
<strong>Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.</strong>
|
|
Cytogenet. Cell Genet. 44: 231-233, 1987.
|
|
|
|
|
|
[PubMed: 3107917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132377]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shah, P. K., Yano, J., Reyes, O., Chyu, K.-Y., Kaul, S., Bisgaier, C. L., Drake, S., Cercek, B.
|
|
<strong>High-dose recombinant apolipoprotein A-I(Milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein E-deficient mice: potential implications for acute plaque stabilization.</strong>
|
|
Circulation 103: 3047-3050, 2001.
|
|
|
|
|
|
[PubMed: 11425766]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/hc2501.092494]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Kornblihtt, A. R., Munro, B. S., Baralle, F. E.
|
|
<strong>Gene structure of human apolipoprotein A-I.</strong>
|
|
Nucleic Acids Res. 11: 2827-2837, 1983.
|
|
|
|
|
|
[PubMed: 6406984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/11.9.2827]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, J. D., Brinton, E. A., Breslow, J. L.
|
|
<strong>Polymorphism in the human apolipoprotein A-I gene promoter region: association of the minor allele with decreased production rate in vivo and promoter activity in vitro.</strong>
|
|
J. Clin. Invest. 89: 1796-1800, 1992.
|
|
|
|
|
|
[PubMed: 1601989]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115783]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Soutar, A. K., Hawkins, P. N., Vigushin, D. M., Tennent, G. A., Booth, S. E., Hutton, T., Nguyen, O., Totty, N. F., Feest, T. G., Hsuan, J. J., Pepys, M. B.
|
|
<strong>Apolipoprotein AI mutation arg-60 causes autosomal dominant amyloidosis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 7389-7393, 1992.
|
|
|
|
|
|
[PubMed: 1502149]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.16.7389]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stocks, J., Paul, H., Galton, D.
|
|
<strong>Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-I C-III A-IV gene region and hypertriglyceridemia.</strong>
|
|
Am. J. Hum. Genet. 41: 106-118, 1987.
|
|
|
|
|
|
[PubMed: 2887109]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Strobl, W., Jabs, H.-U., Hayde, M., Holzinger, T., Assmann, G., Widhalm, K.
|
|
<strong>Apolipoprotein A-I (glu198-to-lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia.</strong>
|
|
Pediat. Res. 24: 222-228, 1988.
|
|
|
|
|
|
[PubMed: 3141894]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-198808000-00017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Third, J. L. H. C., Montag, J., Flynn, M., Freidel, J., Laskarzewski, P., Glueck, C. J.
|
|
<strong>Primary and familial hypoalphalipoproteinemia.</strong>
|
|
Metabolism 33: 136-146, 1984.
|
|
|
|
|
|
[PubMed: 6694557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0026-0495(84)90126-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thompson, E. A., Deeb, S., Walker, D., Motulsky, A. G.
|
|
<strong>The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.</strong>
|
|
Am. J. Hum. Genet. 42: 113-124, 1988.
|
|
|
|
|
|
[PubMed: 2892394]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Utermann, G., Feussner, G., Franceschini, G., Haas, J., Steinmetz, A.
|
|
<strong>Genetic variants of group A apolipoproteins: rapid methods for screening and characterization without ultracentrifugation.</strong>
|
|
J. Biol. Chem. 257: 501-507, 1982.
|
|
|
|
|
|
[PubMed: 7082443]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Utermann, G., Haas, J., Steinmetz, A., Paetzold, R., Rall, S. C., Jr., Weisgraber, K. H., Mahley, R. W.
|
|
<strong>Apolipoprotein A-I(Giessen) (pro143-to-arg): a mutant that is defective in activating lecithin:cholesterol acyltransferase.</strong>
|
|
Europ. J. Biochem. 144: 325-331, 1984.
|
|
|
|
|
|
[PubMed: 6489332]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1432-1033.1984.tb08467.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Utermann, G., Steinmetz, A., Paetzold, R., Wilk, J., Feussner, G., Kaffarnik, H., Mueller-Eckhardt, C., Seidel, D., Vogelberg, K.-H., Zimmer, F.
|
|
<strong>Apolipoprotein AI(Marburg): studies of two kindreds with a mutant of human apolipoprotein AI.</strong>
|
|
Hum. Genet. 61: 329-337, 1982.
|
|
|
|
|
|
[PubMed: 6818131]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00276597]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Allen, M. W., Frohlich, J. A., Davis, J. R.
|
|
<strong>Inherited predisposition to generalized amyloidosis: clinical and pathological study of a family with neuropathy, nephropathy and peptic ulcer.</strong>
|
|
Neurology 19: 10-25, 1969.
|
|
|
|
|
|
[PubMed: 4304452]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.19.1.10]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vergani, C., Bettale, G.
|
|
<strong>Familial hypo-alpha-lipoproteinemia.</strong>
|
|
Clin. Chim. Acta 114: 45-52, 1981.
|
|
|
|
|
|
[PubMed: 7249374]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0009-8981(81)90226-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., Assmann, G., Welp, S., Roetrige, A., Kock, R.
|
|
<strong>Apolipoprotein A-I variants: naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.</strong>
|
|
J. Clin. Invest. 84: 1722-1730, 1989.
|
|
|
|
|
|
[PubMed: 2512329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114355]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weisgraber, K. H., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R.
|
|
<strong>A-I (Milano) apoprotein: isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins.</strong>
|
|
J. Clin. Invest. 66: 901-907, 1980.
|
|
|
|
|
|
[PubMed: 6776144]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109957]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weisgraber, K. H., Rall, S. C., Jr., Bersot, T. P., Mahley, R. W., Franceschini, G., Sirtori, C. R.
|
|
<strong>Apolipoprotein A-I (Milano): detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.</strong>
|
|
J. Biol. Chem. 258: 2508-2513, 1983.
|
|
|
|
|
|
[PubMed: 6401735]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamakawa-Kobayashi, K., Yanagi, H., Fukayama, H., Hirano, C., Shimakura, Y., Yamamoto, N., Arinami, T., Tsuchiya, S., Hamaguchi, H.
|
|
<strong>Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.</strong>
|
|
Hum. Molec. Genet. 8: 331-336, 1999.
|
|
|
|
|
|
[PubMed: 9931341]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/8.2.331]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Yui, Y., Aoyama, T., Morishita, H., Takahashi, M., Takatsu, Y., Kawai, C.
|
|
<strong>Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I): a novel function of Apo A-I.</strong>
|
|
J. Clin. Invest. 82: 803-807, 1988.
|
|
|
|
|
|
[PubMed: 3047170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113682]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Zhang, Y., Zanotti, I., Reilly, M. P., Glick, J. M., Rothblat, G. H., Rader, D. J.
|
|
<strong>Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.</strong>
|
|
Circulation 108: 661-663, 2003.
|
|
|
|
|
|
[PubMed: 12900335]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.CIR.0000086981.09834.E0]
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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