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<title>
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Entry
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- *600824 - CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3
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- OMIM
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</li>
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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="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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</form>
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<div class="row">
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<p />
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</div>
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</div>
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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">*600824</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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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>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></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="#geneStructure">Gene Structure</a>
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</li>
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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="#geneFunction">Gene Function</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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/600824">Table View</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>
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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=ENSG00000129170;t=ENST00000265968" 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=8048" 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=600824" 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=ENSG00000129170;t=ENST00000265968" 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_001369404,NM_003476" 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_003476" 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=600824" 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=07525&isoform_id=07525_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/CSRP3" 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/790229,1234841,1705933,4097978,4098009,4502893,6841031,13543483,15422474,18645189,34783682,119588761,119588762,124302202,189053839,384096922,1471751856,1471759054,1609559065" 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/P50461" 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=8048" 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=ENSG00000129170;t=ENST00000265968" 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=CSRP3" 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=CSRP3" 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+8048" 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/CSRP3" 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:8048" 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/8048" 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=ENST00000265968.9&hgg_start=19182030&hgg_end=19201983&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">
|
|
<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://search.clinicalgenome.org/kb/genes/HGNC:2472" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600824[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=600824[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://www.deciphergenomics.org/gene/CSRP3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000129170" 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=CSRP3" 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=CSRP3" 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=CSRP3" 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=CSRP3&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/PA26971" 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:2472" 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://flybase.org/reports/FBgn0014863.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1330824" 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/CSRP3#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:1330824" 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/8048/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=8048" 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://wormbase.org/db/gene/gene?name=WBGene00003375;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041010-119" 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">
|
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<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:8048" 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=CSRP3&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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</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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600824
|
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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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CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3
|
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CYSTEINE-RICH PROTEIN 3; CRP3<br />
|
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LIM DOMAIN PROTEIN, CARDIAC<br />
|
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CLP LIM DOMAIN PROTEIN, MUSCLE; MLP
|
|
</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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<div>
|
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<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=CSRP3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CSRP3</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/11/233?start=-3&limit=10&highlight=233">11p15.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:19182030-19201983&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'})">11:19,182,030-19,201,983</a> </span>
|
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</em>
|
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</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>
|
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<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>
|
|
<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607482,612124" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</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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<p><a href="#10" class="mim-tip-reference" title="Weiskirchen, R., Pino, J. D., Macalma, T., Bister, K., Beckerle, M. C. <strong>The cysteine-rich protein family of highly related LIM domain proteins.</strong> J. Biol. Chem. 270: 28946-28954, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499425</a>] [<a href="https://doi.org/10.1074/jbc.270.48.28946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7499425">Weiskirchen et al. (1995)</a> described the CRP family of LIM domain proteins, which includes CRP1 (<a href="/entry/123876">123876</a>), CRP2 (<a href="/entry/601871">601871</a>), and CRP3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7499425" 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>Muscle development is a complex, multistep process under the control of both ubiquitous and muscle-specific transcriptional regulators. <a href="#1" class="mim-tip-reference" title="Arber, S., Halder, G., Caroni, P. <strong>Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation.</strong> Cell 79: 221-231, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7954791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7954791</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90192-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7954791">Arber et al. (1994)</a> described a positive regulator of myogenesis that was cloned from a subtracted cDNA library enriched for messages induced in denervated rat skeletal muscle. The rat cDNA was designated muscle LIM protein (Mlp) because it contains a cysteine-rich domain originally described in the 3 proteins Lin-11, Isl-1 (<a href="/entry/600366">600366</a>), and Mec-3. Mlp is enriched in striated muscle and its expression coincides with myogenic differentiation. In the absence of Mlp, induced myoblasts express myogenin but fail to exit the cell cycle and differentiate. The rat Mlp cDNA encodes a predicted 194-amino acid protein containing 2 LIM motifs. The protein is highly conserved and Northern blots detected transcripts in chicken and Drosophila, from which the corresponding genes were isolated. The chicken and rat proteins are 93% identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7954791" 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="#4" class="mim-tip-reference" title="Fung, Y. W., Wang, R. X., Heng, H. H. Q., Liew, C. C. <strong>Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization.</strong> Genomics 28: 602-603, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490106</a>] [<a href="https://doi.org/10.1006/geno.1995.1200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490106">Fung et al. (1995)</a> cloned a human cDNA, which they designated cardiac LIM protein (CLP), whose deduced amino acid sequence is 95% identical to that of rat Mlp. The authors proposed that the human gene is the homolog of the rat sequence. Northern blots showed expression in cardiac and slow-twitch skeletal muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490106" 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="#7" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> determined that the CSRP3 gene contains 6 exons and spans a 20-kb genomic region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" 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>Using fluorescence in situ hybridization, <a href="#4" class="mim-tip-reference" title="Fung, Y. W., Wang, R. X., Heng, H. H. Q., Liew, C. C. <strong>Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization.</strong> Genomics 28: 602-603, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490106</a>] [<a href="https://doi.org/10.1006/geno.1995.1200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490106">Fung et al. (1995)</a> mapped the CSRP3 gene to chromosome 11p15.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490106" 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="#7" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> presented biophysical/biochemical studies in Mlp-deficient mouse cardiac muscle that supported a selective role for this Z disc protein in mechanical stretch sensing. They showed that MLP interacts with and colocalizes with telethonin (TCAP; <a href="/entry/604488">604488</a>), a titin-interacting protein. Further, a human MLP mutation associated with dilated cardiomyopathy (CMD1M; <a href="/entry/607482">607482</a>) resulted in a marked defect in TCAP interaction/localization. <a href="#7" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> concluded that the Z disc MLP/TCAP complex is a key component of the in vivo cardiomyocyte stretch sensor machinery and that defects in the complex can lead to human dilated cardiomyopathy and associated heart failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" 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 expression profiling and quantitative RT-PCR, <a href="#8" class="mim-tip-reference" title="Kostek, M. C., Chen, Y.-W., Cuthbertson, D. J., Shi, R., Fedele, M. J., Esser, K. A., Rennie, M. J. <strong>Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32.</strong> Physiol. Genomics 31: 42-52, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17519359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17519359</a>] [<a href="https://doi.org/10.1152/physiolgenomics.00151.2006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17519359">Kostek et al. (2007)</a> found that lengthening exercise followed by shortening exercise resulted in elevated expression of CSRP3 and MUSTN1 (<a href="/entry/617195">617195</a>) over 24 hours in biopsies of quadriceps muscle of healthy male volunteers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17519359" 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="#6" class="mim-tip-reference" title="Geier, C., Perrot, A., Ozcelik, C., Binner, P., Counsell, D., Hoffmann, K., Pilz, B., Martiniak, Y., Gehmlich, K., van der Ven, P. F. M., Furst, D. O., Vornwald, A., von Hodenberg, E., Nurnberg, P., Scheffold, T., Dietz, R., Osterziel, K. J. <strong>Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.</strong> Circulation 107: 1390-1395, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642359</a>] [<a href="https://doi.org/10.1161/01.cir.0000056522.82563.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642359">Geier et al. (2003)</a> analyzed the CSRP3 gene in 200 patients with hypertrophic cardiomyopathy (CMH; see <a href="/entry/192600">192600</a>), 400 patients with CMD, and 500 controls, and identified 3 different mutations (<a href="#0002">600824.0002</a>-<a href="#0004">600824.0004</a>) that cosegregated with disease in 3 unrelated families with CMH (CMH12; <a href="/entry/612124">612124</a>). All 3 mutations were located in exon 3 and predicted amino acid substitutions at highly conserved residues in the LIM1 domain, which is responsible for interaction with alpha-actinin (see <a href="/entry/102575">102575</a>) and with certain muscle-specific transcription factors. No mutations were detected in the CMD patients or controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12642359" 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 2 sibs who died of dilated cardiomyopathy and who were negative for mutation in 8 known cardiomyopathy genes, <a href="#9" class="mim-tip-reference" title="Mohapatra, B., Jimenez, S., Lin, J. H., Bowles, K. R., Coveler, K. J., Marx, J. G., Chrisco, M. A., Murphy, R. T., Lurie, P. R., Schwartz, R. J., Elliott, P. M., Vatta, M., McKenna, W., Towbin, J. A., Bowles, N. E. <strong>Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.</strong> Molec. Genet. Metab. 80: 207-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14567970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14567970</a>] [<a href="https://doi.org/10.1016/s1096-7192(03)00142-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14567970">Mohapatra et al. (2003)</a> identified heterozygosity for a missense mutation in the CSRP3 gene (K69R; <a href="#0005">600824.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14567970" 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="#5" class="mim-tip-reference" title="Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others. <strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong> Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>] [<a href="https://doi.org/10.1093/hmg/ddn160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505755">Geier et al. (2008)</a> sequenced exons 2 and 3 of the CSRP3 gene in 652 CMD and 354 CMH patients and 533 unrelated controls and identified 2 unrelated CMH probands with a missense mutation in CSRP3 (<a href="#0006">600824.0006</a>). The authors also found the W4R variant (<a href="#0001">600824.0001</a>), previously reported by <a href="#7" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> in 10 patients with dilated cardiomyopathy (CMD1M; <a href="/entry/607482">607482</a>), in 3 CMD patients (0.5%), 2 CMH patients (0.6%), and 2 controls (0.4%); they concluded that the W4R variant is not sufficient to cause cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18505755+12507422" 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>This variant, formerly titled CARDIOMYOPATHY, DILATED, 1M (<a href="/entry/607482">607482</a>), has been reclassified based on the findings of <a href="#3" class="mim-tip-reference" title="Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. <strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong> Molec. Genet. Metab. 88: 78-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[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.ymgme.2005.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16352453">Bos et al. (2006)</a> and <a href="#5" class="mim-tip-reference" title="Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others. <strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong> Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>] [<a href="https://doi.org/10.1093/hmg/ddn160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505755">Geier et al. (2008)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16352453+18505755" 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="#7" class="mim-tip-reference" title="Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others. <strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong> Cell 111: 943-955, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01226-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12507422">Knoll et al. (2002)</a> sequenced the entire MLP coding region in more than 50 patients with dilated cardiomyopathy (DCM) and identified 1 patient with a heterozygous T-to-C transition that led to a severe change, trp4 to arg (W4R), in the MLP protein. This mutation was located within the N-terminal TCAP (<a href="/entry/604488">604488</a>)-interacting domain (TID) of MLP, and the resulting form of DCM was designated CMD1M (<a href="/entry/607482">607482</a>). The 1-bp change introduced a Nci I restriction site, allowing subsequent rapid screening of 536 DCM patients, resulting in the identification of 9 additional patients with the identical heterozygous missense mutation in MLP. All positive patients were confirmed by direct sequencing of the TID region. Genetic analysis of the kindred of 3 DCM patients suggested a dominant form of disease transmission. Linkage analysis was carried out for 7 German DCM families, resulting in a combined 2-point lod score of 2.62. This analysis was limited by the size of pedigrees and age-dependent penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" 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="#3" class="mim-tip-reference" title="Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. <strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong> Molec. Genet. Metab. 88: 78-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[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.ymgme.2005.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16352453">Bos et al. (2006)</a> analyzed all translated exons of the CSRP3 gene in 389 unrelated CMH patients and identified heterozygosity for the W4R variant in 7 patients as well as in 1 of 400 reference alleles. One of the patients carrying the W4R variant also had a mutation in the MYBPC3 gene (<a href="/entry/600958">600958</a>), and 2 of them also had a mutation in the MYH7 gene (<a href="/entry/160760">160760</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16352453" 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="#5" class="mim-tip-reference" title="Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others. <strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong> Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>] [<a href="https://doi.org/10.1093/hmg/ddn160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505755">Geier et al. (2008)</a> sequenced exons 2 and 3 of the CSRP3 gene in 652 CMD and 354 CMH patients and 533 unrelated controls and found the W4R variant in 3 CMD patients (0.5%), 2 CMH patients (0.6%), and 2 controls (0.4%). Affected individuals from 1 of the CMH families were subsequently found to carry a known MYBPC3 nonsense mutation, and there was no correlation between the presence of the W4R variant and the severity of the disease and/or progression to heart failure. Both controls harboring the W4R variant (61 and 75 years old, respectively) had a negative family history of heart failure. The authors concluded that W4R is not sufficient to cause cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505755" 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>In 4 affected members of a large family with hypertrophic cardiomyopathy (CMH12; <a href="/entry/612124">612124</a>), who were negative for mutations in all known CMH genes, <a href="#6" class="mim-tip-reference" title="Geier, C., Perrot, A., Ozcelik, C., Binner, P., Counsell, D., Hoffmann, K., Pilz, B., Martiniak, Y., Gehmlich, K., van der Ven, P. F. M., Furst, D. O., Vornwald, A., von Hodenberg, E., Nurnberg, P., Scheffold, T., Dietz, R., Osterziel, K. J. <strong>Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.</strong> Circulation 107: 1390-1395, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642359</a>] [<a href="https://doi.org/10.1161/01.cir.0000056522.82563.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642359">Geier et al. (2003)</a> identified heterozygosity for a T-to-G transversion in exon 3 of the CSRP3 gene, resulting in a cys58-to-gly (C58G) substitution at a highly conserved residue in the LIM1 domain. Protein-binding studies revealed that the C58G mutation lead to decreased binding activity of MLP to alpha-actinin (see <a href="/entry/102575">102575</a>). The mutation was not found in 400 patients with dilated cardiomyopathy (see <a href="/entry/115200">115200</a>) or in 500 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12642359" 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="#5" class="mim-tip-reference" title="Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others. <strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong> Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>] [<a href="https://doi.org/10.1093/hmg/ddn160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505755">Geier et al. (2008)</a> found that the C58G-mutant protein was less stable in solution than wildtype MLP, and that thermolysine digestion resulted in more rapid proteolysis of the mutant protein. The instability of C58G-mutant MLP was confirmed in transfected COS-1 cells, and RT-PCR showed that the relative lack of mutant MLP compared to wildtype was due to degradation of the mutated form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505755" 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> rs104894205 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894205;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/rs104894205?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=rs104894205" 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=rs104894205" 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=RCV000009323 OR RCV000037770 OR RCV000621095 OR RCV000627796 OR RCV000768501 OR RCV001529867 OR RCV003231096" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009323, RCV000037770, RCV000621095, RCV000627796, RCV000768501, RCV001529867, RCV003231096" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009323...</a>
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<p>In 3 brothers with hypertrophic cardiomyopathy (CMH12; <a href="/entry/612124">612124</a>), <a href="#6" class="mim-tip-reference" title="Geier, C., Perrot, A., Ozcelik, C., Binner, P., Counsell, D., Hoffmann, K., Pilz, B., Martiniak, Y., Gehmlich, K., van der Ven, P. F. M., Furst, D. O., Vornwald, A., von Hodenberg, E., Nurnberg, P., Scheffold, T., Dietz, R., Osterziel, K. J. <strong>Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.</strong> Circulation 107: 1390-1395, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642359</a>] [<a href="https://doi.org/10.1161/01.cir.0000056522.82563.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642359">Geier et al. (2003)</a> identified heterozygosity for a T-to-C transition in exon 3 of the CSRP3 gene, resulting in a leu44-to-pro (L44P) substitution at a highly conserved residue in the LIM1 domain. The mutation was not found in 400 patients with dilated cardiomyopathy (see <a href="/entry/115200">115200</a>) or in 500 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12642359" 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">rs281865416 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865416;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=rs281865416" 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=rs281865416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a brother and 2 sisters with hypertrophic cardiomyopathy (CMH12; <a href="/entry/612124">612124</a>), <a href="#6" class="mim-tip-reference" title="Geier, C., Perrot, A., Ozcelik, C., Binner, P., Counsell, D., Hoffmann, K., Pilz, B., Martiniak, Y., Gehmlich, K., van der Ven, P. F. M., Furst, D. O., Vornwald, A., von Hodenberg, E., Nurnberg, P., Scheffold, T., Dietz, R., Osterziel, K. J. <strong>Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.</strong> Circulation 107: 1390-1395, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642359</a>] [<a href="https://doi.org/10.1161/01.cir.0000056522.82563.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12642359">Geier et al. (2003)</a> identified heterozygosity for a mutation affecting 3 nucleotides, TCGGAG-to-AGGGGG, in exon 3 of the CSRP3 gene, resulting in adjacent ser54-to-arg (S54R) and glu55-to-gly (E55G) substitutions at highly conserved residues in the LIM1 domain. The mutation was not found in 400 patients with dilated cardiomyopathy (see <a href="/entry/115200">115200</a>) or in 500 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12642359" 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>.0005 CARDIOMYOPATHY, DILATED, 1M (1 family)</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> rs137852764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852764;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/rs137852764?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=rs137852764" 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=rs137852764" 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=RCV000009325 OR RCV000196843 OR RCV000254537 OR RCV000505800 OR RCV001254753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009325, RCV000196843, RCV000254537, RCV000505800, RCV001254753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009325...</a>
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<p>In 2 sibs who died of dilated cardiomyopathy (CMD1M; <a href="/entry/607482">607482</a>), <a href="#9" class="mim-tip-reference" title="Mohapatra, B., Jimenez, S., Lin, J. H., Bowles, K. R., Coveler, K. J., Marx, J. G., Chrisco, M. A., Murphy, R. T., Lurie, P. R., Schwartz, R. J., Elliott, P. M., Vatta, M., McKenna, W., Towbin, J. A., Bowles, N. E. <strong>Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.</strong> Molec. Genet. Metab. 80: 207-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14567970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14567970</a>] [<a href="https://doi.org/10.1016/s1096-7192(03)00142-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14567970">Mohapatra et al. (2003)</a> identified heterozygosity for a 205A-G transition in exon 2 of the CSRP3 gene, resulting in substitution of arg at the highly conserved lys69 (K69R). Computer modeling predicted significant secondary structural changes, and coimmunoprecipitation studies showed that the K69R mutant CSRP3 did not bind ACTN2 (<a href="/entry/102573">102573</a>). The mutation was also found in the unaffected mother, but not in the unaffected father or 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14567970" 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>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</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> rs137852765 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852765;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/rs137852765?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=rs137852765" 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=rs137852765" 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=RCV000009326 OR RCV000183335 OR RCV000549408 OR RCV001170939 OR RCV001703415 OR RCV002381246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009326, RCV000183335, RCV000549408, RCV001170939, RCV001703415, RCV002381246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009326...</a>
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<p>In 2 probands from unrelated families with hypertrophic cardiomyopathy (CMH12; <a href="/entry/612124">612124</a>), <a href="#5" class="mim-tip-reference" title="Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others. <strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong> Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>] [<a href="https://doi.org/10.1093/hmg/ddn160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505755">Geier et al. (2008)</a> identified heterozygosity for a 136A-C transversion in exon 3 of the CSRP3 gene, resulting in a ser46-to-arg (S46R) substitution at a highly conserved residue. The mutation cosegregated with disease in 1 family and was not found in the unaffected son of the other proband or in 533 unrelated controls. Although the 2 families were unrelated, haplotype analysis revealed that they may share a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505755" 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="1" class="mim-anchor"></a>
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<a id="Arber1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Arber, S., Halder, G., Caroni, P.
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|
<strong>Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation.</strong>
|
|
Cell 79: 221-231, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7954791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7954791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7954791" 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/10.1016/0092-8674(94)90192-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Arber1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Arber, S., Hunter, J. J., Ross, J., Jr., Hongo, M., Sansig, G., Borg, J., Perriard, J.-C., Chien, K. R., Caroni, P.
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<strong>MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure.</strong>
|
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Cell 88: 393-403, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039266" 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/s0092-8674(00)81878-4" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Bos2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bos, J. M., Poley, R. N., Ny, M., Tester, D. J., Xu, X., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
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<strong>Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.</strong>
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Molec. Genet. Metab. 88: 78-85, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16352453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16352453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16352453[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=16352453" 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/j.ymgme.2005.10.008" target="_blank">Full Text</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="4" class="mim-anchor"></a>
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<a id="Fung1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fung, Y. W., Wang, R. X., Heng, H. H. Q., Liew, C. C.
|
|
<strong>Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization.</strong>
|
|
Genomics 28: 602-603, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490106" 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/10.1006/geno.1995.1200" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Geier2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., and 9 others.
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<strong>Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.</strong>
|
|
Hum. Molec. Genet. 17: 2753-2765, 2008. Note: Erratum: Hum. Molec. Genet. 17: 3436 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505755" 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/ddn160" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Geier2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Geier, C., Perrot, A., Ozcelik, C., Binner, P., Counsell, D., Hoffmann, K., Pilz, B., Martiniak, Y., Gehmlich, K., van der Ven, P. F. M., Furst, D. O., Vornwald, A., von Hodenberg, E., Nurnberg, P., Scheffold, T., Dietz, R., Osterziel, K. J.
|
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<strong>Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.</strong>
|
|
Circulation 107: 1390-1395, 2003.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12642359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12642359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12642359" 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.0000056522.82563.5f" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Knoll2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., and 9 others.
|
|
<strong>The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.</strong>
|
|
Cell 111: 943-955, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12507422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12507422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12507422" 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/s0092-8674(02)01226-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Kostek2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kostek, M. C., Chen, Y.-W., Cuthbertson, D. J., Shi, R., Fedele, M. J., Esser, K. A., Rennie, M. J.
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<strong>Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32.</strong>
|
|
Physiol. Genomics 31: 42-52, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17519359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17519359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17519359" 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/10.1152/physiolgenomics.00151.2006" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Mohapatra2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mohapatra, B., Jimenez, S., Lin, J. H., Bowles, K. R., Coveler, K. J., Marx, J. G., Chrisco, M. A., Murphy, R. T., Lurie, P. R., Schwartz, R. J., Elliott, P. M., Vatta, M., McKenna, W., Towbin, J. A., Bowles, N. E.
|
|
<strong>Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.</strong>
|
|
Molec. Genet. Metab. 80: 207-215, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14567970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14567970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14567970" 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/s1096-7192(03)00142-2" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Weiskirchen1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weiskirchen, R., Pino, J. D., Macalma, T., Bister, K., Beckerle, M. C.
|
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<strong>The cysteine-rich protein family of highly related LIM domain proteins.</strong>
|
|
J. Biol. Chem. 270: 28946-28954, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7499425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7499425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7499425" 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/10.1074/jbc.270.48.28946" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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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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<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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Patricia A. Hartz - updated : 11/09/2016
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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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Marla J. F. O'Neill - updated : 04/21/2015<br>Marla J. F. O'Neill - updated : 3/30/2009<br>Marla J. F. O'Neill - updated : 6/30/2008<br>Marla J. F. O'Neill - updated : 6/24/2008<br>Stylianos E. Antonarakis - updated : 1/15/2003<br>Patti M. Sherman - updated : 12/16/1998
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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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Alan F. Scott : 10/3/1995
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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="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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mgross : 11/09/2016
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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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carol : 09/13/2016<br>carol : 04/21/2015<br>alopez : 9/15/2014<br>alopez : 9/15/2014<br>wwang : 4/7/2009<br>terry : 3/30/2009<br>terry : 7/3/2008<br>alopez : 7/1/2008<br>terry : 6/30/2008<br>wwang : 6/24/2008<br>carol : 4/7/2005<br>tkritzer : 1/22/2004<br>carol : 1/17/2003<br>mgross : 1/15/2003<br>mgross : 1/15/2003<br>mgross : 1/15/2003<br>psherman : 7/19/1999<br>carol : 12/21/1998<br>psherman : 12/16/1998<br>mark : 4/7/1996<br>mark : 12/5/1995<br>mark : 10/3/1995
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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 class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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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> 600824
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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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CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3
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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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<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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CYSTEINE-RICH PROTEIN 3; CRP3<br />
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LIM DOMAIN PROTEIN, CARDIAC<br />
|
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CLP LIM DOMAIN PROTEIN, MUSCLE; MLP
|
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CSRP3</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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<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: 11p15.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:19,182,030-19,201,983 </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
Inheritance
|
|
</th>
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|
<th>
|
|
Phenotype <br /> mapping key
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</th>
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|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
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<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
11p15.1
|
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</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
?Cardiomyopathy, dilated, 1M
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
607482
|
|
</span>
|
|
</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">
|
|
3
|
|
</span>
|
|
</td>
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|
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|
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|
|
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</tr>
|
|
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|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, hypertrophic, 12
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
612124
|
|
</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
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</tbody>
|
|
</table>
|
|
</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>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Weiskirchen et al. (1995) described the CRP family of LIM domain proteins, which includes CRP1 (123876), CRP2 (601871), and CRP3. </p><p>Muscle development is a complex, multistep process under the control of both ubiquitous and muscle-specific transcriptional regulators. Arber et al. (1994) described a positive regulator of myogenesis that was cloned from a subtracted cDNA library enriched for messages induced in denervated rat skeletal muscle. The rat cDNA was designated muscle LIM protein (Mlp) because it contains a cysteine-rich domain originally described in the 3 proteins Lin-11, Isl-1 (600366), and Mec-3. Mlp is enriched in striated muscle and its expression coincides with myogenic differentiation. In the absence of Mlp, induced myoblasts express myogenin but fail to exit the cell cycle and differentiate. The rat Mlp cDNA encodes a predicted 194-amino acid protein containing 2 LIM motifs. The protein is highly conserved and Northern blots detected transcripts in chicken and Drosophila, from which the corresponding genes were isolated. The chicken and rat proteins are 93% identical. </p><p>Fung et al. (1995) cloned a human cDNA, which they designated cardiac LIM protein (CLP), whose deduced amino acid sequence is 95% identical to that of rat Mlp. The authors proposed that the human gene is the homolog of the rat sequence. Northern blots showed expression in cardiac and slow-twitch skeletal muscles. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Knoll et al. (2002) determined that the CSRP3 gene contains 6 exons and spans a 20-kb genomic region. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using fluorescence in situ hybridization, Fung et al. (1995) mapped the CSRP3 gene to chromosome 11p15.1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Knoll et al. (2002) presented biophysical/biochemical studies in Mlp-deficient mouse cardiac muscle that supported a selective role for this Z disc protein in mechanical stretch sensing. They showed that MLP interacts with and colocalizes with telethonin (TCAP; 604488), a titin-interacting protein. Further, a human MLP mutation associated with dilated cardiomyopathy (CMD1M; 607482) resulted in a marked defect in TCAP interaction/localization. Knoll et al. (2002) concluded that the Z disc MLP/TCAP complex is a key component of the in vivo cardiomyocyte stretch sensor machinery and that defects in the complex can lead to human dilated cardiomyopathy and associated heart failure. </p><p>Using expression profiling and quantitative RT-PCR, Kostek et al. (2007) found that lengthening exercise followed by shortening exercise resulted in elevated expression of CSRP3 and MUSTN1 (617195) over 24 hours in biopsies of quadriceps muscle of healthy male volunteers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Geier et al. (2003) analyzed the CSRP3 gene in 200 patients with hypertrophic cardiomyopathy (CMH; see 192600), 400 patients with CMD, and 500 controls, and identified 3 different mutations (600824.0002-600824.0004) that cosegregated with disease in 3 unrelated families with CMH (CMH12; 612124). All 3 mutations were located in exon 3 and predicted amino acid substitutions at highly conserved residues in the LIM1 domain, which is responsible for interaction with alpha-actinin (see 102575) and with certain muscle-specific transcription factors. No mutations were detected in the CMD patients or controls. </p><p>In 2 sibs who died of dilated cardiomyopathy and who were negative for mutation in 8 known cardiomyopathy genes, Mohapatra et al. (2003) identified heterozygosity for a missense mutation in the CSRP3 gene (K69R; 600824.0005). </p><p>Geier et al. (2008) sequenced exons 2 and 3 of the CSRP3 gene in 652 CMD and 354 CMH patients and 533 unrelated controls and identified 2 unrelated CMH probands with a missense mutation in CSRP3 (600824.0006). The authors also found the W4R variant (600824.0001), previously reported by Knoll et al. (2002) in 10 patients with dilated cardiomyopathy (CMD1M; 607482), in 3 CMD patients (0.5%), 2 CMH patients (0.6%), and 2 controls (0.4%); they concluded that the W4R variant is not sufficient to cause cardiomyopathy. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Arber et al. (1997) generated Csrp3 -/- mice and observed the development of dilated cardiomyopathy with hypertrophy and heart failure after birth. Ultrastructural analysis revealed dramatic disruption of cardiomyocyte cytoarchitecture, including myofibrillar disorganization. In vivo analysis revealed that Csrp3-deficient mice reproduce the morphologic and clinical picture of dilated cardiomyopathy and heart failure in humans. The authors stated that this was the first model for this condition in a genetically manipulatable organism. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, TRP4ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs45550635,
|
|
|
|
|
|
gnomAD: rs45550635,
|
|
|
|
|
|
ClinVar: RCV000009321, RCV000150371, RCV000172743, RCV000201441, RCV000251021, RCV000487821, RCV000770316, RCV000999619, RCV001084134, RCV003993742, RCV004532315
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, formerly titled CARDIOMYOPATHY, DILATED, 1M (607482), has been reclassified based on the findings of Bos et al. (2006) and Geier et al. (2008). </p><p>Knoll et al. (2002) sequenced the entire MLP coding region in more than 50 patients with dilated cardiomyopathy (DCM) and identified 1 patient with a heterozygous T-to-C transition that led to a severe change, trp4 to arg (W4R), in the MLP protein. This mutation was located within the N-terminal TCAP (604488)-interacting domain (TID) of MLP, and the resulting form of DCM was designated CMD1M (607482). The 1-bp change introduced a Nci I restriction site, allowing subsequent rapid screening of 536 DCM patients, resulting in the identification of 9 additional patients with the identical heterozygous missense mutation in MLP. All positive patients were confirmed by direct sequencing of the TID region. Genetic analysis of the kindred of 3 DCM patients suggested a dominant form of disease transmission. Linkage analysis was carried out for 7 German DCM families, resulting in a combined 2-point lod score of 2.62. This analysis was limited by the size of pedigrees and age-dependent penetrance. </p><p>Bos et al. (2006) analyzed all translated exons of the CSRP3 gene in 389 unrelated CMH patients and identified heterozygosity for the W4R variant in 7 patients as well as in 1 of 400 reference alleles. One of the patients carrying the W4R variant also had a mutation in the MYBPC3 gene (600958), and 2 of them also had a mutation in the MYH7 gene (160760). </p><p>Geier et al. (2008) sequenced exons 2 and 3 of the CSRP3 gene in 652 CMD and 354 CMH patients and 533 unrelated controls and found the W4R variant in 3 CMD patients (0.5%), 2 CMH patients (0.6%), and 2 controls (0.4%). Affected individuals from 1 of the CMH families were subsequently found to carry a known MYBPC3 nonsense mutation, and there was no correlation between the presence of the W4R variant and the severity of the disease and/or progression to heart failure. Both controls harboring the W4R variant (61 and 75 years old, respectively) had a negative family history of heart failure. The authors concluded that W4R is not sufficient to cause cardiomyopathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, CYS58GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894204,
|
|
|
|
|
|
|
|
ClinVar: RCV000009322, RCV002399315
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a large family with hypertrophic cardiomyopathy (CMH12; 612124), who were negative for mutations in all known CMH genes, Geier et al. (2003) identified heterozygosity for a T-to-G transversion in exon 3 of the CSRP3 gene, resulting in a cys58-to-gly (C58G) substitution at a highly conserved residue in the LIM1 domain. Protein-binding studies revealed that the C58G mutation lead to decreased binding activity of MLP to alpha-actinin (see 102575). The mutation was not found in 400 patients with dilated cardiomyopathy (see 115200) or in 500 controls. </p><p>Geier et al. (2008) found that the C58G-mutant protein was less stable in solution than wildtype MLP, and that thermolysine digestion resulted in more rapid proteolysis of the mutant protein. The instability of C58G-mutant MLP was confirmed in transfected COS-1 cells, and RT-PCR showed that the relative lack of mutant MLP compared to wildtype was due to degradation of the mutated form. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, LEU44PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894205,
|
|
|
|
|
|
gnomAD: rs104894205,
|
|
|
|
|
|
ClinVar: RCV000009323, RCV000037770, RCV000621095, RCV000627796, RCV000768501, RCV001529867, RCV003231096
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 brothers with hypertrophic cardiomyopathy (CMH12; 612124), Geier et al. (2003) identified heterozygosity for a T-to-C transition in exon 3 of the CSRP3 gene, resulting in a leu44-to-pro (L44P) substitution at a highly conserved residue in the LIM1 domain. The mutation was not found in 400 patients with dilated cardiomyopathy (see 115200) or in 500 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, SER54ARG AND GLU55GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281865416,
|
|
|
|
|
|
|
|
ClinVar: RCV000009324
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and 2 sisters with hypertrophic cardiomyopathy (CMH12; 612124), Geier et al. (2003) identified heterozygosity for a mutation affecting 3 nucleotides, TCGGAG-to-AGGGGG, in exon 3 of the CSRP3 gene, resulting in adjacent ser54-to-arg (S54R) and glu55-to-gly (E55G) substitutions at highly conserved residues in the LIM1 domain. The mutation was not found in 400 patients with dilated cardiomyopathy (see 115200) or in 500 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARDIOMYOPATHY, DILATED, 1M (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, LYS69ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852764,
|
|
|
|
|
|
gnomAD: rs137852764,
|
|
|
|
|
|
ClinVar: RCV000009325, RCV000196843, RCV000254537, RCV000505800, RCV001254753
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs who died of dilated cardiomyopathy (CMD1M; 607482), Mohapatra et al. (2003) identified heterozygosity for a 205A-G transition in exon 2 of the CSRP3 gene, resulting in substitution of arg at the highly conserved lys69 (K69R). Computer modeling predicted significant secondary structural changes, and coimmunoprecipitation studies showed that the K69R mutant CSRP3 did not bind ACTN2 (102573). The mutation was also found in the unaffected mother, but not in the unaffected father or 200 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSRP3, SER46ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852765,
|
|
|
|
|
|
gnomAD: rs137852765,
|
|
|
|
|
|
ClinVar: RCV000009326, RCV000183335, RCV000549408, RCV001170939, RCV001703415, RCV002381246
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 probands from unrelated families with hypertrophic cardiomyopathy (CMH12; 612124), Geier et al. (2008) identified heterozygosity for a 136A-C transversion in exon 3 of the CSRP3 gene, resulting in a ser46-to-arg (S46R) substitution at a highly conserved residue. The mutation cosegregated with disease in 1 family and was not found in the unaffected son of the other proband or in 533 unrelated controls. Although the 2 families were unrelated, haplotype analysis revealed that they may share a common ancestor. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arber, S., Halder, G., Caroni, P.
|
|
<strong>Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation.</strong>
|
|
Cell 79: 221-231, 1994.
|
|
|
|
|
|
[PubMed: 7954791]
|
|
|
|
|
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[Full Text: https://doi.org/10.1016/0092-8674(94)90192-9]
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