4631 lines
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Entry
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- *179820 - RENIN; REN
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*179820</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/179820">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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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=ENSG00000143839;t=ENST00000272190" 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=5972" 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=179820" 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=ENSG00000143839;t=ENST00000272190" 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_000537" 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_000537" 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=179820" 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=01564&isoform_id=01564_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/REN" 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/35952,132326,337340,337342,337347,4506475,4588882,29126911,37790800,49168484,54311156,119611911,166706825" 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/P00797" 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=5972" 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=ENSG00000143839;t=ENST00000272190" 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=REN" 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=REN" 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+5972" 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/REN" 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:5972" 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/5972" 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=chr1&hgg_gene=ENST00000272190.9&hgg_start=204154819&hgg_end=204166337&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9958" 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://medlineplus.gov/genetics/gene/ren" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=179820[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=179820[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000143839" 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=REN" 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=REN" 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=REN" 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=REN&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/PA297" 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:9958" 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/FBgn0038506.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/search?q=MGI:97898 MGI:97899" 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/REN#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/batch/summary?idType=MGI&ids=MGI:97898 MGI:97899" 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/5972/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=5972" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000214;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000214 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000218;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000218 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012681;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012681 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012682;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012682 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013973;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013973 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00017678;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00017678 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00077655;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00077655 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040630-3" 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:5972" 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=REN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702397002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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179820
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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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RENIN; REN
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=REN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">REN</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>
|
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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: <a href="/geneMap/1/1606?start=-3&limit=10&highlight=1606">1q32.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:204154819-204166337&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'})">1:204,154,819-204,166,337</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>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=267430,613092" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
<tr>
|
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<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1606?start=-3&limit=10&highlight=1606">
|
|
1q32.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
[Hyperproreninemia]
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
Renal tubular dysgenesis
|
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</span>
|
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</td>
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<p>Released by the juxtaglomerular cells of the kidney, renin (<a href="https://enzyme.expasy.org/EC/3.4.23.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.4.23.15</a>) catalyzes the first step in the activation pathway of angiotensinogen, a cascade that can result in aldosterone release, vasoconstriction, and increase in blood pressure. Renin cleaves angiotensinogen to form angiotensin I (<a href="/entry/106150">106150</a>), which is converted to angiotensin II by angiotensin I-converting enzyme (<a href="/entry/106180">106180</a>), an important regulator of blood pressure and electrolyte balance. Renin occurs in organs other than the kidney, e.g., in the brain, where it is implicated in the regulation of numerous activities.</p>
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<p><a href="#13" class="mim-tip-reference" title="Imai, T., Miyazaki, H., Hirose, S., Hori, H., Hayashi, T., Kageyama, R., Ohkubo, H., Nakanishi, S., Murakami, K. <strong>Cloning and sequence analysis of cDNA for human renin precursor.</strong> Proc. Nat. Acad. Sci. 80: 7405-7409, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6324167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6324167</a>] [<a href="https://doi.org/10.1073/pnas.80.24.7405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6324167">Imai et al. (1983)</a> sequenced full-length cDNA clones prepared from RNA extracted from a surgically removed ischemic kidney in which the renin content was markedly increased due to renal artery stenosis. The primary structure of renin precursor was deduced from its cDNA sequence: it consists of 406 amino acids with a pre and a pro segment carrying 20 and 46 amino acids, respectively. A high degree of homology was found with mouse renin. Close similarity was also observed in the primary structures of renin and aspartyl proteinases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6324167" 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>By transfection experiments with the human renin gene in fibroblast cells and pituitary tumor cells, <a href="#28" class="mim-tip-reference" title="Pratt, R. E., Flynn, J. A., Hobart, P. M., Paul, M., Dzau, V. J. <strong>Different secretory pathways of renin from mouse cells transfected with the human renin gene.</strong> J. Biol. Chem. 263: 3137-3141, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2893797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2893797</a>]" pmid="2893797">Pratt et al. (1988)</a> demonstrated that human renin may be secreted by at least 2 cellular pathways: a constitutive pathway for the secretion of prorenin and a regulated pathway for the secretion of mature renin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2893797" 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="#26" class="mim-tip-reference" title="Nguyen, G., Delarue, F., Burckle, C., Bouzhir, L., Giller, T., Sraer, J.-D. <strong>Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin.</strong> J. Clin. Invest. 109: 1417-1427, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12045255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12045255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12045255[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/10.1172/JCI14276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12045255">Nguyen et al. (2002)</a> identified ATP6AP2 (<a href="/entry/300556">300556</a>) as the gene encoding renin receptor. Using coimmunoprecipitation experiments, they confirmed that renin receptor bound renin and prorenin. Binding of renin to the receptor induced a 4-fold increase in conversion of angiotensinogen to angiotensin I over that shown by soluble renin. In addition, renin stimulation resulted in phosphorylation of serine and tyrosine residues of the receptor, which was associated with ERK1 (MAPK3; <a href="/entry/601795">601795</a>) and ERK2 (MAPK1; <a href="/entry/176948">176948</a>) activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12045255" 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="#36" class="mim-tip-reference" title="Yokota, H., Nagaoka, T., Mori, F., Hikichi, T., Hosokawa, H., Tanaka, H., Ishida, Y., Suzuki, F., Yoshida, A. <strong>Prorenin levels in retinopathy of prematurity.</strong> Am. J. Ophthal. 143: 531-533, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17317409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17317409</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.10.046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17317409">Yokota et al. (2007)</a> found that serum prorenin levels in preterm infants with retinopathy of prematurity (ROP) were significantly higher than in those without ROP: mean prorenin concentrations of 2,326 versus 1,1165 microgram/ml from 26 to 30 weeks, 1,760 versus 957 microgram/ml from 31 to 36 weeks, and 576 versus 386 micrograms/ml from 36 to 40 weeks, respectively. <a href="#36" class="mim-tip-reference" title="Yokota, H., Nagaoka, T., Mori, F., Hikichi, T., Hosokawa, H., Tanaka, H., Ishida, Y., Suzuki, F., Yoshida, A. <strong>Prorenin levels in retinopathy of prematurity.</strong> Am. J. Ophthal. 143: 531-533, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17317409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17317409</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.10.046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17317409">Yokota et al. (2007)</a> suggested that prorenin levels in preterm infants could predict which infants would develop ROP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17317409" 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>According to <a href="#12" class="mim-tip-reference" title="Hobart, P. M., Fogliano, M., O'Connor, B. A., Schaefer, I. M., Chirgwin, J. M. <strong>Human renin gene: structure and sequence analysis.</strong> Proc. Nat. Acad. Sci. 81: 5026-5030, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6089171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6089171</a>] [<a href="https://doi.org/10.1073/pnas.81.16.5026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6089171">Hobart et al. (1984)</a>, the renin gene spans 12 kb of DNA and contains 8 introns. The structure of the renin gene is similar to that of pepsinogen (<a href="/entry/169700">169700</a>), a closely related aspartyl protease. Thus, renin and pepsinogen probably have a common evolutionary origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6089171" 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 renin probe was used by <a href="#25" class="mim-tip-reference" title="Naylor, S. L., Schaefer, I., Rotwein, P., Piccini, N., Gross, K., Chirgwin, J. M. <strong>Human renin gene is located on chromosome 1. (Abstract)</strong> Cytogenet. Cell Genet. 37: 549-550, 1984."None>Naylor et al. (1984)</a> to map human REN by the analysis of hybrid cell DNAs. Assignment was made to human 1p21-qter. <a href="#19" class="mim-tip-reference" title="Middleton-Price, H., van den Berghe, J., Harding, A., Scott, J., Malcolm, S. <strong>Analysis of markers on chromosome 1. (Abstract)</strong> Cytogenet. Cell Genet. 46: 662 only, 1987."None>Middleton-Price et al. (1987)</a> assigned the REN gene to 1q32-qter by in situ hybridization, Southern analysis of somatic cell hybrids, and deletion mapping. This localization is consistent with the prediction from homology with the mouse. In studies of DNA from an infant with deletion of 1q32.3-q42.3, <a href="#37" class="mim-tip-reference" title="Youssoufian, H., Chance, P., Tuck-Muller, C. M., Jabs, E. W. <strong>Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.</strong> Hum. Genet. 78: 267-270, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162227</a>] [<a href="https://doi.org/10.1007/BF00291674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162227">Youssoufian et al. (1988)</a> excluded this area as the site of REN. <a href="#17" class="mim-tip-reference" title="McGill, J. R., Chirgwin, J. M., Moore, C. M., McCombs, J. L. <strong>Chromosome localization of the human renin gene (REN) by in situ hybridization.</strong> Cytogenet. Cell Genet. 45: 55-57, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3297510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3297510</a>] [<a href="https://doi.org/10.1159/000132425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3297510">McGill et al. (1987)</a> mapped the renin gene to 1q25-q32 by in situ hybridization. By hybridization to somatic cell hybrid DNAs, <a href="#10" class="mim-tip-reference" title="Griffiths, L. R., Nicholson, G. A., Ross, D. A., Zwi, M. B., McLeod, J. G., Mohandas, T., Morris, B. J. <strong>Regional chromosomal assignment of human renin gene to 1q12-qter and use in linkage studies in Charcot-Marie-Tooth disease.</strong> Cytogenet. Cell Genet. 45: 231-233, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3319438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3319438</a>] [<a href="https://doi.org/10.1159/000132459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3319438">Griffiths et al. (1987)</a> assigned the REN gene to 1q12-qter. They were unable to find evidence of linkage to Charcot-Marie-Tooth disease (<a href="/entry/118200">118200</a>), which was not unexpected since REN may be located as far distal as 1q32. By in situ hybridization, <a href="#24" class="mim-tip-reference" title="Nakai, H., Inoue, S., Miyazaki, H., Murakami, K., Tada, K. <strong>Human renin gene assigned to chromosome band 1q42 by in situ hybridization.</strong> Cytogenet. Cell Genet. 47: 90-91, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3281803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3281803</a>] [<a href="https://doi.org/10.1159/000132515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3281803">Nakai et al. (1988)</a> localized the REN gene to 1q41-q42, probably on 1q42, which is inconsistent with earlier findings. In a linkage map of chromosome 1 prepared by <a href="#32" class="mim-tip-reference" title="Rouleau, G. A., Bazanowski, A., Gusella, J. F., Haines, J. L. <strong>A genetic map of chromosome 1: comparison of different data sets and linkage programs.</strong> Genomics 7: 313-318, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365352</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90163-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365352">Rouleau et al. (1990)</a>, it was concluded that REN lies about 24 cM distal to AT3. By isotopic in situ hybridization studies in a patient with a translocation t(1;4)(q42;p16), <a href="#30" class="mim-tip-reference" title="Qin, H., Chen, Y.-H., Yip, M.-Y., Lam-Po-Tang, P. R. L., Morris, B. J. <strong>Reassignment of human renin gene to chromosome 1q32 in studies of a (1;4)(q42;p16) translocation.</strong> Hum. Hered. 43: 261-264, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8344672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8344672</a>] [<a href="https://doi.org/10.1159/000154142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8344672">Qin et al. (1993)</a> demonstrated that hybridization signals were confined to the 1q32 band, with radioactivity in the 1q42 region being similar to the low levels found along all other chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3162227+2365352+8344672+3319438+3297510+3281803" 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>All mice have a kidney-type renin gene, Ren1, which is located on mouse chromosome 1 (<a href="#3" class="mim-tip-reference" title="Chirgwin, J. M., Schaefer, I. M., Diaz, J. A., Lalley, P. A. <strong>Mouse kidney renin gene is on chromosome one.</strong> Somat. Cell Molec. Genet. 10: 633-637, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6095465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6095465</a>] [<a href="https://doi.org/10.1007/BF01535229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6095465">Chirgwin et al., 1984</a>). In some mouse strains, the male submaxillary gland secretes large amounts of renin. These mice have a second renin locus (Ren2), also on chromosome 1. The rat also has 2 Ren genes, which are in close proximity, being separated by approximately 20 kb (<a href="#1" class="mim-tip-reference" title="Abel, K. J., Gross, K. W. <strong>Close physical linkage of the murine Ren-1 and Ren-2 loci.</strong> Nucleic Acids Res. 16: 2111-2126, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2833727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2833727</a>] [<a href="https://doi.org/10.1093/nar/16.5.2111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2833727">Abel and Gross, 1988</a>). This situation is similar to that for insulin (<a href="/entry/176730">176730</a>), for which there are likewise 2 loci in rodents. <a href="#3" class="mim-tip-reference" title="Chirgwin, J. M., Schaefer, I. M., Diaz, J. A., Lalley, P. A. <strong>Mouse kidney renin gene is on chromosome one.</strong> Somat. Cell Molec. Genet. 10: 633-637, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6095465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6095465</a>] [<a href="https://doi.org/10.1007/BF01535229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6095465">Chirgwin et al. (1984)</a> suggested that those that have the second renin locus have had a tandem duplication of the renal-type renin locus. By study of a panel of rat/mouse somatic cell hybrids, <a href="#29" class="mim-tip-reference" title="Pravenec, M., Simonet, L., Kren, V., Kunes, J., Levan, G., Szpirer, J., Szpirer, C., Kurtz, T. <strong>The rat renin gene: assignment to chromosome 13 and linkage to the regulation of blood pressure.</strong> Genomics 9: 466-472, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674497</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90412-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674497">Pravenec et al. (1991)</a> found that in the rat the renin gene is located on chromosome 13 in a conserved synteny group located on chromosome 1 in man and mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6095465+1674497+2833727" 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="#21" class="mim-tip-reference" title="Morris, B. J., Griffiths, L. R. <strong>Frequency in hypertensives of alleles for a RFLP associated with the renin gene.</strong> Biochem. Biophys. Res. Commun. 150: 219-224, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2892488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2892488</a>] [<a href="https://doi.org/10.1016/0006-291x(88)90508-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2892488">Morris and Griffiths (1988)</a> could find no relationship between primary hypertension and a HindIII RFLP in the renin gene. The frequency of alleles for the HindIII polymorphism in hypertensives did not differ from that in controls, and there was no significant difference in renin activity in plasma for hypertensive patients of each genotype, nor in their pre- or post-treatment blood pressures. Using 4 RFLPs of the REN locus, <a href="#23" class="mim-tip-reference" title="Naftilan, A. J., Williams, R., Burt, D., Paul, M., Pratt, R. E., Hobart, P., Chirgwin, J., Dzau, V. J. <strong>A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension.</strong> Hypertension 14: 614-618, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2573574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2573574</a>] [<a href="https://doi.org/10.1161/01.hyp.14.6.614" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2573574">Naftilan et al. (1989)</a> excluded absolute linkage by observing obligate recombinants among 9 relatives with hypertension in a large Utah pedigree with a high incidence of hypertension. <a href="#16" class="mim-tip-reference" title="Masharani, U., Frossard, P. M. <strong>MboI RFLP at the human renin (ren) gene locus.</strong> Nucleic Acids Res. 16: 2357 only, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895911</a>] [<a href="https://doi.org/10.1093/nar/16.5.2357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895911">Masharani and Frossard (1988)</a> described a RFLP at the REN locus. Using the sib-pair method of linkage analysis, <a href="#14" class="mim-tip-reference" title="Jeunemaitre, X., Rigat, B., Charru, A., Houot, A.-M., Soubrier, F., Corvol, P. <strong>Sib pair linkage analysis of renin gene haplotypes in human essential hypertension.</strong> Hum. Genet. 88: 301-306, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346386</a>] [<a href="https://doi.org/10.1007/BF00197264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346386">Jeunemaitre et al. (1992)</a> could demonstrate no role for the renin gene in the pathogenesis of essential hypertension. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2895911+2892488+1346386+2573574" 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="#6" class="mim-tip-reference" title="Frossard, P. M., Gonzalez, P. A., Fritz, L. C., Ponte, P. A., Fiddes, J. C., Atlas, S. A. <strong>Two RFLPs at the human renin (ren) gene locus.</strong> Nucleic Acids Res. 14: 4380 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3520482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3520482</a>] [<a href="https://doi.org/10.1093/nar/14.10.4380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3520482">Frossard et al. (1986)</a> described a dimorphic BglI site in the first intron of the REN gene. <a href="#7" class="mim-tip-reference" title="Frossard, P. M., Lestringant, G. G., Malloy, M. J., Kane, J. P. <strong>Human renin gene BglI dimorphism associated with hypertension in two independent populations.</strong> Clin. Genet. 56: 428-433, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10665661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10665661</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1999.560604.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10665661">Frossard et al. (1999)</a> found a statistically significant association between alleles on which the BglI site was present and the clinical diagnosis of essential hypertension in 2 independent populations: one from the United Emirates, a genetically homogeneous ethnic population with no history of smoking or alcohol consumption, and to a lesser extent, in a U. S. Caucasian group that was studied for hypercholesterolemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3520482+10665661" 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="#8" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M.-C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al. (2005)</a> studied 11 individuals with renal tubular dysgenesis (<a href="/entry/267430">267430</a>) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN), angiotensinogen (AGT; <a href="/entry/106150">106150</a>), angiotensin-converting enzyme (ACE; <a href="/entry/106180">106180</a>), or angiotensin II receptor type 1 (AGTR1; <a href="/entry/106165">106165</a>). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Dominant Tubulointerstitial Kidney Disease 4</em></strong></p><p>
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<a href="#39" class="mim-tip-reference" title="Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., and 17 others. <strong>Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.</strong> Am. J. Hum. Genet. 85: 204-213, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664745[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.ajhg.2009.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19664745">Zivna et al. (2009)</a> analyzed the candidate gene renin in 3 families segregating autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; <a href="/entry/613092">613092</a>), 1 of which was originally reported as family BE1 by <a href="#33" class="mim-tip-reference" title="Stiburkova, B., Majewski, J., Hodanova, K., Ondrova, L., Jerabkova, M., Zikanova, M., Vylet'al, P., Sebesta, I., Marinaki, A., Simmonds, A., Matthijs, G., Fryns, J.-P., Torres, R., Puig, J. G., Ott, J., Kmoch, S. <strong>Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.</strong> Europ. J. Hum. Genet. 11: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634862</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12634862">Stiburkova et al. (2003)</a>, and identified a heterozygous 3-bp deletion in 2 of the families (<a href="#0004">179820.0004</a>) and a heterozygous missense mutation in the third family (<a href="#0005">179820.0005</a>). The mutations were not found in unaffected family members or controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12634862+19664745" 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="#31" class="mim-tip-reference" title="Rapp, J. P., Wang, S.-M., Dene, H. <strong>A genetic polymorphism in the renin gene of Dahl rats cosegregates with blood pressure.</strong> Science 243: 542-544, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563177</a>] [<a href="https://doi.org/10.1126/science.2563177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2563177">Rapp et al. (1989)</a> found that Dahl rats sensitive to hypertension with salt administration had a different RFLP in the renin gene than did Dahl rats resistant to hypertension. They found, furthermore, that when the sensitive and resistant rats were crossed, the renin RFLP cosegregated with blood pressure in the F2 generation. One dose of the 'sensitive' renin allele was associated with an increment of blood pressure approximately 10 mm Hg, and 2 doses increased blood pressure approximately 20 mm Hg. <a href="#31" class="mim-tip-reference" title="Rapp, J. P., Wang, S.-M., Dene, H. <strong>A genetic polymorphism in the renin gene of Dahl rats cosegregates with blood pressure.</strong> Science 243: 542-544, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563177</a>] [<a href="https://doi.org/10.1126/science.2563177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2563177">Rapp et al. (1989)</a> concluded that in the rat the renin gene is, or is closely linked to, one of the genes regulating blood pressure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2563177" 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="#22" class="mim-tip-reference" title="Mullins, J. J., Peters, J., Ganten, D. <strong>Fulminant hypertension in transgenic rats harbouring the mouse Ren-2 gene.</strong> Nature 344: 541-544, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2181319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2181319</a>] [<a href="https://doi.org/10.1038/344541a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2181319">Mullins et al. (1990)</a> demonstrated that introduction of the mouse Ren2 renin gene into the genome of the rat induced severe hypertension despite the fact that the transgenic animals did not overexpress active renin in the kidney and had low levels of active renin in their plasma. The transgenic hypertensive rat model TGR(mREN2)27 generated by <a href="#22" class="mim-tip-reference" title="Mullins, J. J., Peters, J., Ganten, D. <strong>Fulminant hypertension in transgenic rats harbouring the mouse Ren-2 gene.</strong> Nature 344: 541-544, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2181319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2181319</a>] [<a href="https://doi.org/10.1038/344541a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2181319">Mullins et al. (1990)</a> is characterized by fulminant hypertension, low plasma active renin, suppressed kidney renin, high plasma inactive renin, and high extrarenal transgene expression, most prominently in the adrenal cortex. Additionally, it exhibits significantly enhanced excretion of corticosteroids. In these rats, <a href="#27" class="mim-tip-reference" title="Peters, J., Munter, K., Bader, M., Hackenthal, E., Mullins, J. J., Ganten, D. <strong>Increased adrenal renin in transgenic hypertensive rats, TGR(mREN2)27, and its regulation by cAMP, angiotensin II, and calcium.</strong> J. Clin. Invest. 91: 742-747, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8383701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8383701</a>] [<a href="https://doi.org/10.1172/JCI116292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8383701">Peters et al. (1993)</a> demonstrated that part of the plasma renin and most of the adrenal renin are transgene determined and that the adrenal renin is strongly activated. <a href="#15" class="mim-tip-reference" title="Kurtz, T. W. <strong>Transgenic models of hypertension: useful tools or unusual toys? (Editorial)</strong> J. Clin. Invest. 91: 741 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450055</a>] [<a href="https://doi.org/10.1172/JCI116291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8450055">Kurtz (1993)</a> pointed out that 'To the extent that transgenic models reveal novel mechanisms of increased blood pressure, they may provide important new perspectives for investigating the genetic basis of spontaneous forms of hypertension. However, the development of gene targeting methods that enable the creation of animal models with selective nucleotide substitutions will ultimately be required to determine the precise role of specific candidate genes in the pathogenesis of essential hypertension.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2181319+8450055+8383701" 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="#29" class="mim-tip-reference" title="Pravenec, M., Simonet, L., Kren, V., Kunes, J., Levan, G., Szpirer, J., Szpirer, C., Kurtz, T. <strong>The rat renin gene: assignment to chromosome 13 and linkage to the regulation of blood pressure.</strong> Genomics 9: 466-472, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674497</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90412-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674497">Pravenec et al. (1991)</a> studied a large set of recombinant inbred (RI) strains derived from spontaneously hypertensive rats (SHR) and normotensive brown-Norway (BN) rats. They found that the median blood pressure of the RI strains that inherited the renin allele of the SHR to be greater than that of the RI strains that inherited the renin allele of the normotensive BN rat. They interpreted these findings as indicating that sequence variation in the renin gene or in genes linked to the renin locus have an effect on blood pressure in the rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Caron, K. M. I., James, L. R., Kim, H.-S., Knowles, J., Uhlir, R., Mao, L., Hagaman, J. R., Cascio, W., Rockman, H., Smithies, O. <strong>Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.</strong> Proc. Nat. Acad. Sci. 101: 3106-3111, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14978280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14978280</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14978280[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/10.1073/pnas.0307333101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14978280">Caron et al. (2004)</a> studied one of the mouse models valuable for investigating hypertrophic responses to cardiac stress. This model was caused by a well-defined single copy transgene involving the renin gene that genetically clamps plasma renin and thence angiotensin II at high levels. All of the transgenic males developed concentric cardiac hypertrophy with fibrosis but without dilatation. More than half died suddenly at the age of 6 to 8 months. Telemetry showed disturbances in diurnal rhythms a few days before death and, later, electrocardiographic disturbances comparable to those in humans with congestive heart failure. Comparisons were made of the expression of 7 hypertrophy-related genes in this and 2 categorically different models: lack of atrial natriuretic peptide receptor A (NPR1; <a href="/entry/108960">108960</a>) and overexpression of calsequestrin (CASQ2; <a href="/entry/114251">114251</a>). Statistical analyses showed that ventricular expressions of the genes encoding atrial natriuretic peptide, beta myosin heavy chain, medium chain acyl-CoA dehydrogenase, and adrenomedullin (<a href="/entry/103275">103275</a>) correlated equally well with the degree of hypertrophy, although their ranges of expression were, respectively, 50-, 30-, and 10-, and 3-fold. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14978280" 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">rs121917740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917740;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=rs121917740" 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=rs121917740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>During an epidemiologic survey of a Dutch population, <a href="#34" class="mim-tip-reference" title="van Hooft, I. M. S., Grobbee, D. E., Derkx, F. H. M., de Leeuw, P. W., Schalekamp, M. A. D. H., Hofman, A. <strong>Renal hemodynamics and the renin-angiotensin-aldosterone system in normotensive subjects with hypertensive and normotensive parents.</strong> New Eng. J. Med. 324: 1305-1311, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2017226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2017226</a>] [<a href="https://doi.org/10.1056/NEJM199105093241902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2017226">van Hooft et al. (1991)</a> found a family in which plasma trypsin-activated prorenin was elevated in the 58-year-old father, his son, and 1 of his sisters. All family members were normotensive and had normal plasma renin activities. By exon sequencing of the renin gene of the proband and of his son after PCR amplification, <a href="#35" class="mim-tip-reference" title="Villard, E., Lalau, J.-D., van Hooft, I. S., Derkx, F. H. M., Houot, A.-M., Pinet, F., Corvol, P., Soubrier, F. <strong>A mutant renin gene in familial elevation of prorenin.</strong> J. Biol. Chem. 269: 30307-30312, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7982942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7982942</a>]" pmid="7982942">Villard et al. (1994)</a> identified a point mutation in the last exon of the gene, exon 10. Mutation occurred at a position corresponding to codon 387 of the preprorenin cDNA. A C-to-T transition introduced a premature stop codon (TGA) in the renin gene sequence in place of the normal CGA (arg) at codon 387. The mutated allele should direct the synthesis of a truncated form of renin, with 20 amino acids deleted from the carboxyl terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2017226+7982942" 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> rs121917741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917741;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/rs121917741?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=rs121917741" 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=rs121917741" 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=RCV000014003 OR RCV001281274 OR RCV002496353 OR RCV004696635" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014003, RCV001281274, RCV002496353, RCV004696635" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014003...</a>
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<p>In a consanguineous family of North African extraction, <a href="#8" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M.-C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al. (2005)</a> found a 145C-T transition in exon 2 of the REN gene associated with renal tubular dysgenesis (<a href="/entry/267430">267430</a>). The mutation was predicted to cause an arg49-to-stop (R49X) protein change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 RENAL TUBULAR DYSGENESIS</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> rs121917742 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917742;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/rs121917742?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=rs121917742" 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=rs121917742" 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 consanguineous family of Tunisian origin, <a href="#8" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M.-C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al. (2005)</a> found that renal tubular dysgenesis (<a href="/entry/267430">267430</a>) was associated with a homozygous arg230-to-lys (R230K) mutation in renin. The amino acid substitution was caused by a 689G-A transition in exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116425" 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><div class="mim-changed mim-change">.0004 TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4</div></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014005 OR RCV002496354 OR RCV003565383" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014005, RCV002496354, RCV003565383" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014005...</a>
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<p>In the proband from a 4-generation Belgian family segregating autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; <a href="/entry/613092">613092</a>) originally reported by <a href="#33" class="mim-tip-reference" title="Stiburkova, B., Majewski, J., Hodanova, K., Ondrova, L., Jerabkova, M., Zikanova, M., Vylet'al, P., Sebesta, I., Marinaki, A., Simmonds, A., Matthijs, G., Fryns, J.-P., Torres, R., Puig, J. G., Ott, J., Kmoch, S. <strong>Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.</strong> Europ. J. Hum. Genet. 11: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634862</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12634862">Stiburkova et al. (2003)</a> as family BE1, <a href="#39" class="mim-tip-reference" title="Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., and 17 others. <strong>Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.</strong> Am. J. Hum. Genet. 85: 204-213, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664745[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.ajhg.2009.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19664745">Zivna et al. (2009)</a> identified heterozygosity for a 3-bp deletion in exon 1 of the REN gene, predicted to result in the deletion of leu16 (L16del). The deletion was present in all affected individuals and was not found in unaffected family members or in 385 unrelated Caucasian controls. The identical mutation was present on a distinct haplotype in another family with hyperuricemic nephropathy (family B). Transfection and in vitro studies showed that L16del affected ER translocation and processing of nascent prorenin, resulting in reduction of renin biosynthesis and secretion. Cells stably expressing the L16del protein showed activated ER stress, unfolded protein response,and reduced growth rate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12634862+19664745" 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><div class="mim-changed mim-change">.0005 TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4</div></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">rs121917743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917743;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=rs121917743" 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=rs121917743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family of Portuguese origin (family C) with autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; <a href="/entry/613092">613092</a>), <a href="#39" class="mim-tip-reference" title="Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., and 17 others. <strong>Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.</strong> Am. J. Hum. Genet. 85: 204-213, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664745[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.ajhg.2009.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19664745">Zivna et al. (2009)</a> identified a heterozygous c.47T-G transversion in exon 1 of the renin gene, predicted to result in a leu16-to-arg (L16R) substitution. Transfection and in vitro studies showed that L16R affected ER translocation and processing of nascent prorenin, abolishing renin biosynthesis and secretion. The mutation was not found in unaffected family members or in 185 Caucasian controls and 50 Portuguese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19664745" 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> rs397514690 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514690;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/rs397514690?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=rs397514690" 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=rs397514690" 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=RCV000043472 OR RCV002496686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043472, RCV002496686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043472...</a>
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<p>In an Italian girl, born of consanguineous parents, with renal tubular dysgenesis (<a href="/entry/267430">267430</a>), <a href="#9" class="mim-tip-reference" title="Gribouval, O., Moriniere, V., Pawtowski, A., Arrondel, C., Sallinen, S.-L., Saloranta, C., Clericuzio, C., Viot, G., Tantau, J., Blesson, S., Cloarec, S., Machet, M. C., and 43 others. <strong>Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.</strong> Hum. Mutat. 33: 316-326, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22095942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22095942</a>] [<a href="https://doi.org/10.1002/humu.21661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22095942">Gribouval et al. (2012)</a> identified a homozygous c.127C-T transition in exon 2 of the REN gene, resulting in an arg43-to-ter (R43X) substitution. The girl died on the fourth day of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22095942" 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">rs397514691 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514691;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=rs397514691" 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=rs397514691" 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 girl, born of consanguineous Algerian parents, with renal tubular dysgenesis (<a href="/entry/267430">267430</a>), <a href="#38" class="mim-tip-reference" title="Zingg-Schenk, A., Bacchetta, J., Corvol, P., Michaud, A., Stallmach, T., Cochat, P., Gribouval, O., Gubler, M.-C., Neuhaus, T. J. <strong>Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.</strong> Europ. J. Pediat. 167: 311-316, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17443344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17443344</a>] [<a href="https://doi.org/10.1007/s00431-007-0492-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17443344">Zingg-Schenk et al. (2008)</a> identified a homozygous 404C-A transversion in exon 4 of the REN gene, resulting in a ser135-to-tyr (S135Y) substitution. The patient survived the neonatal period with peritoneal dialysis and underwent renal transplant at age 4 years. She showed normal psychomotor development at age 10 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17443344" 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="#18" class="mim-tip-reference" title="Michaud, A., Bur, D., Gribouval, O., Muller, L., Iturrioz, X., Clemessy, M., Gasc, J. M., Gubler, M.-C., Corvol, P. <strong>Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.</strong> Hum. Molec. Genet. 20: 301-311, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21036942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21036942</a>] [<a href="https://doi.org/10.1093/hmg/ddq465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21036942">Michaud et al. (2011)</a> identified a homozygous S135Y mutation in a Moroccan infant with renal tubular dysgenesis who died in the first hour of life. The S135Y substitution corresponds to S69Y in the mature protein, and is located at a highly conserved residue close to the beginning of a lengthy beta-hairpin structure called the 'flap,' which is required for proper enzymatic function. In vitro functional expression studies suggested that the mutation resulted in abnormal secretion and intracellular protein degradation, likely due to incorrect protein folding. Secretion of some of the mutant protein could be partially restored by decreasing temperature and by proteasomal inhibition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21036942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Field1985" class="mim-tip-reference" title="Field, L. J., Gross, K. W. <strong>Ren-1 and Ren-2 loci are expressed in mouse kidney.</strong> Proc. Nat. Acad. Sci. 82: 6196-6200, 1985.">Field and Gross (1985)</a>; <a href="#Fritz1986" class="mim-tip-reference" title="Fritz, L. C., Arfsten, A. E., Dzau, V. J., Atlas, S. A., Baxter, J. D., Fiddes, J. C., Shine, J., Cofer, C. L., Kushner, P., Ponte, P. A. <strong>Characterization of human prorenin expressed in mammalian cells from cloned cDNA.</strong> Proc. Nat. Acad. Sci. 83: 4114-4118, 1986.">Fritz et al. (1986)</a>; <a href="#Hardman1984" class="mim-tip-reference" title="Hardman, J. A., Hort, Y. J., Catanzaro, D. F., Tellam, J. T., Baxter, J. D., Morris, B. J., Shine, J. <strong>Primary structure of the human renin gene.</strong> DNA 3: 457-468, 1984.">Hardman et al. (1984)</a>; <a href="#Miyazaki1984" class="mim-tip-reference" title="Miyazaki, H., Fukamizu, A., Hirose, S., Hayashi, T., Hori, H., Ohkubo, H., Nakanishi, S., Murakami, K. <strong>Structure of the human renin gene.</strong> Proc. Nat. Acad. Sci. 81: 5999-6003, 1984.">Miyazaki et al. (1984)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2833727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2833727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2833727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.</strong>
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Proc. Nat. Acad. Sci. 101: 3106-3111, 2004.
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[<a href="https://doi.org/10.1073/pnas.0307333101" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01535229" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.82.18.6196" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.83.12.4114" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/14.10.4380" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.560604.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1623" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.21661" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132459" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1089/dna.1.1984.3.457" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.81.16.5026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.80.24.7405" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00197264" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI116291" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/16.5.2357" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132425" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq465" target="_blank">Full Text</a>]
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Hum. Genet. 78: 267-270, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291674" 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="38" class="mim-anchor"></a>
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<a id="Zingg-Schenk2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zingg-Schenk, A., Bacchetta, J., Corvol, P., Michaud, A., Stallmach, T., Cochat, P., Gribouval, O., Gubler, M.-C., Neuhaus, T. J.
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<strong>Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.</strong>
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Europ. J. Pediat. 167: 311-316, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17443344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17443344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17443344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00431-007-0492-1" 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="39" class="mim-anchor"></a>
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<a id="Zivna2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., and 17 others.
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<strong>Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.</strong>
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Am. J. Hum. Genet. 85: 204-213, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19664745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19664745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19664745[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=19664745" 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.ajhg.2009.07.010" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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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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<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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Cassandra L. Kniffin - updated : 5/1/2013
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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 : 10/15/2009<br>Jane Kelly - updated : 8/13/2007<br>Victor A. McKusick - updated : 9/27/2005<br>Patricia A. Hartz - updated : 9/6/2005<br>Victor A. McKusick - updated : 4/21/2004<br>Victor A. McKusick - updated : 2/3/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" 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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<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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carol : 02/26/2025
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</span>
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</div>
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</div>
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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 : 02/22/2022<br>alopez : 02/09/2021<br>ckniffin : 01/26/2021<br>carol : 10/19/2017<br>carol : 05/02/2013<br>ckniffin : 5/2/2013<br>ckniffin : 5/1/2013<br>carol : 12/10/2010<br>wwang : 10/16/2009<br>terry : 10/15/2009<br>terry : 9/25/2008<br>wwang : 8/16/2007<br>alopez : 9/27/2005<br>terry : 9/27/2005<br>mgross : 9/6/2005<br>tkritzer : 4/27/2004<br>terry : 4/21/2004<br>mcapotos : 2/14/2000<br>mcapotos : 2/10/2000<br>terry : 2/3/2000<br>carol : 8/6/1999<br>terry : 6/11/1999<br>mimadm : 3/25/1995<br>carol : 2/2/1995<br>carol : 11/16/1993<br>carol : 8/31/1993<br>carol : 5/21/1993<br>carol : 5/7/1993
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</span>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 179820
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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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RENIN; REN
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</span>
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</h3>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: REN</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>SNOMEDCT:</strong> 702397002;
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</span>
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</p>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q32.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:204,154,819-204,166,337 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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1q32.1
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</td>
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<td>
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<span class="mim-font">
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[Hyperproreninemia]
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Renal tubular dysgenesis
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</span>
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</td>
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<td>
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<span class="mim-font">
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267430
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<tr>
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<td>
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<span class="mim-font">
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Tubulointerstitial kidney disease, autosomal dominant, 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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613092
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Released by the juxtaglomerular cells of the kidney, renin (EC 3.4.23.15) catalyzes the first step in the activation pathway of angiotensinogen, a cascade that can result in aldosterone release, vasoconstriction, and increase in blood pressure. Renin cleaves angiotensinogen to form angiotensin I (106150), which is converted to angiotensin II by angiotensin I-converting enzyme (106180), an important regulator of blood pressure and electrolyte balance. Renin occurs in organs other than the kidney, e.g., in the brain, where it is implicated in the regulation of numerous activities.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Imai et al. (1983) sequenced full-length cDNA clones prepared from RNA extracted from a surgically removed ischemic kidney in which the renin content was markedly increased due to renal artery stenosis. The primary structure of renin precursor was deduced from its cDNA sequence: it consists of 406 amino acids with a pre and a pro segment carrying 20 and 46 amino acids, respectively. A high degree of homology was found with mouse renin. Close similarity was also observed in the primary structures of renin and aspartyl proteinases. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By transfection experiments with the human renin gene in fibroblast cells and pituitary tumor cells, Pratt et al. (1988) demonstrated that human renin may be secreted by at least 2 cellular pathways: a constitutive pathway for the secretion of prorenin and a regulated pathway for the secretion of mature renin. </p><p>Nguyen et al. (2002) identified ATP6AP2 (300556) as the gene encoding renin receptor. Using coimmunoprecipitation experiments, they confirmed that renin receptor bound renin and prorenin. Binding of renin to the receptor induced a 4-fold increase in conversion of angiotensinogen to angiotensin I over that shown by soluble renin. In addition, renin stimulation resulted in phosphorylation of serine and tyrosine residues of the receptor, which was associated with ERK1 (MAPK3; 601795) and ERK2 (MAPK1; 176948) activation. </p><p>Yokota et al. (2007) found that serum prorenin levels in preterm infants with retinopathy of prematurity (ROP) were significantly higher than in those without ROP: mean prorenin concentrations of 2,326 versus 1,1165 microgram/ml from 26 to 30 weeks, 1,760 versus 957 microgram/ml from 31 to 36 weeks, and 576 versus 386 micrograms/ml from 36 to 40 weeks, respectively. Yokota et al. (2007) suggested that prorenin levels in preterm infants could predict which infants would develop ROP. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>According to Hobart et al. (1984), the renin gene spans 12 kb of DNA and contains 8 introns. The structure of the renin gene is similar to that of pepsinogen (169700), a closely related aspartyl protease. Thus, renin and pepsinogen probably have a common evolutionary origin. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>A renin probe was used by Naylor et al. (1984) to map human REN by the analysis of hybrid cell DNAs. Assignment was made to human 1p21-qter. Middleton-Price et al. (1987) assigned the REN gene to 1q32-qter by in situ hybridization, Southern analysis of somatic cell hybrids, and deletion mapping. This localization is consistent with the prediction from homology with the mouse. In studies of DNA from an infant with deletion of 1q32.3-q42.3, Youssoufian et al. (1988) excluded this area as the site of REN. McGill et al. (1987) mapped the renin gene to 1q25-q32 by in situ hybridization. By hybridization to somatic cell hybrid DNAs, Griffiths et al. (1987) assigned the REN gene to 1q12-qter. They were unable to find evidence of linkage to Charcot-Marie-Tooth disease (118200), which was not unexpected since REN may be located as far distal as 1q32. By in situ hybridization, Nakai et al. (1988) localized the REN gene to 1q41-q42, probably on 1q42, which is inconsistent with earlier findings. In a linkage map of chromosome 1 prepared by Rouleau et al. (1990), it was concluded that REN lies about 24 cM distal to AT3. By isotopic in situ hybridization studies in a patient with a translocation t(1;4)(q42;p16), Qin et al. (1993) demonstrated that hybridization signals were confined to the 1q32 band, with radioactivity in the 1q42 region being similar to the low levels found along all other chromosomes. </p><p>All mice have a kidney-type renin gene, Ren1, which is located on mouse chromosome 1 (Chirgwin et al., 1984). In some mouse strains, the male submaxillary gland secretes large amounts of renin. These mice have a second renin locus (Ren2), also on chromosome 1. The rat also has 2 Ren genes, which are in close proximity, being separated by approximately 20 kb (Abel and Gross, 1988). This situation is similar to that for insulin (176730), for which there are likewise 2 loci in rodents. Chirgwin et al. (1984) suggested that those that have the second renin locus have had a tandem duplication of the renal-type renin locus. By study of a panel of rat/mouse somatic cell hybrids, Pravenec et al. (1991) found that in the rat the renin gene is located on chromosome 13 in a conserved synteny group located on chromosome 1 in man and mouse. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Morris and Griffiths (1988) could find no relationship between primary hypertension and a HindIII RFLP in the renin gene. The frequency of alleles for the HindIII polymorphism in hypertensives did not differ from that in controls, and there was no significant difference in renin activity in plasma for hypertensive patients of each genotype, nor in their pre- or post-treatment blood pressures. Using 4 RFLPs of the REN locus, Naftilan et al. (1989) excluded absolute linkage by observing obligate recombinants among 9 relatives with hypertension in a large Utah pedigree with a high incidence of hypertension. Masharani and Frossard (1988) described a RFLP at the REN locus. Using the sib-pair method of linkage analysis, Jeunemaitre et al. (1992) could demonstrate no role for the renin gene in the pathogenesis of essential hypertension. </p><p>Frossard et al. (1986) described a dimorphic BglI site in the first intron of the REN gene. Frossard et al. (1999) found a statistically significant association between alleles on which the BglI site was present and the clinical diagnosis of essential hypertension in 2 independent populations: one from the United Emirates, a genetically homogeneous ethnic population with no history of smoking or alcohol consumption, and to a lesser extent, in a U. S. Caucasian group that was studied for hypercholesterolemia. </p><p>Gribouval et al. (2005) studied 11 individuals with renal tubular dysgenesis (267430) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN), angiotensinogen (AGT; 106150), angiotensin-converting enzyme (ACE; 106180), or angiotensin II receptor type 1 (AGTR1; 106165). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. </p><p><strong><em>Autosomal Dominant Tubulointerstitial Kidney Disease 4</em></strong></p><p>
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Zivna et al. (2009) analyzed the candidate gene renin in 3 families segregating autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; 613092), 1 of which was originally reported as family BE1 by Stiburkova et al. (2003), and identified a heterozygous 3-bp deletion in 2 of the families (179820.0004) and a heterozygous missense mutation in the third family (179820.0005). The mutations were not found in unaffected family members or controls. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rapp et al. (1989) found that Dahl rats sensitive to hypertension with salt administration had a different RFLP in the renin gene than did Dahl rats resistant to hypertension. They found, furthermore, that when the sensitive and resistant rats were crossed, the renin RFLP cosegregated with blood pressure in the F2 generation. One dose of the 'sensitive' renin allele was associated with an increment of blood pressure approximately 10 mm Hg, and 2 doses increased blood pressure approximately 20 mm Hg. Rapp et al. (1989) concluded that in the rat the renin gene is, or is closely linked to, one of the genes regulating blood pressure. </p><p>Mullins et al. (1990) demonstrated that introduction of the mouse Ren2 renin gene into the genome of the rat induced severe hypertension despite the fact that the transgenic animals did not overexpress active renin in the kidney and had low levels of active renin in their plasma. The transgenic hypertensive rat model TGR(mREN2)27 generated by Mullins et al. (1990) is characterized by fulminant hypertension, low plasma active renin, suppressed kidney renin, high plasma inactive renin, and high extrarenal transgene expression, most prominently in the adrenal cortex. Additionally, it exhibits significantly enhanced excretion of corticosteroids. In these rats, Peters et al. (1993) demonstrated that part of the plasma renin and most of the adrenal renin are transgene determined and that the adrenal renin is strongly activated. Kurtz (1993) pointed out that 'To the extent that transgenic models reveal novel mechanisms of increased blood pressure, they may provide important new perspectives for investigating the genetic basis of spontaneous forms of hypertension. However, the development of gene targeting methods that enable the creation of animal models with selective nucleotide substitutions will ultimately be required to determine the precise role of specific candidate genes in the pathogenesis of essential hypertension.' </p><p>Pravenec et al. (1991) studied a large set of recombinant inbred (RI) strains derived from spontaneously hypertensive rats (SHR) and normotensive brown-Norway (BN) rats. They found that the median blood pressure of the RI strains that inherited the renin allele of the SHR to be greater than that of the RI strains that inherited the renin allele of the normotensive BN rat. They interpreted these findings as indicating that sequence variation in the renin gene or in genes linked to the renin locus have an effect on blood pressure in the rat. </p><p>Caron et al. (2004) studied one of the mouse models valuable for investigating hypertrophic responses to cardiac stress. This model was caused by a well-defined single copy transgene involving the renin gene that genetically clamps plasma renin and thence angiotensin II at high levels. All of the transgenic males developed concentric cardiac hypertrophy with fibrosis but without dilatation. More than half died suddenly at the age of 6 to 8 months. Telemetry showed disturbances in diurnal rhythms a few days before death and, later, electrocardiographic disturbances comparable to those in humans with congestive heart failure. Comparisons were made of the expression of 7 hypertrophy-related genes in this and 2 categorically different models: lack of atrial natriuretic peptide receptor A (NPR1; 108960) and overexpression of calsequestrin (CASQ2; 114251). Statistical analyses showed that ventricular expressions of the genes encoding atrial natriuretic peptide, beta myosin heavy chain, medium chain acyl-CoA dehydrogenase, and adrenomedullin (103275) correlated equally well with the degree of hypertrophy, although their ranges of expression were, respectively, 50-, 30-, and 10-, and 3-fold. </p>
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</span>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPERPRORENINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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REN, ARG387TER
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<br />
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SNP: rs121917740,
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ClinVar: RCV000014002
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>During an epidemiologic survey of a Dutch population, van Hooft et al. (1991) found a family in which plasma trypsin-activated prorenin was elevated in the 58-year-old father, his son, and 1 of his sisters. All family members were normotensive and had normal plasma renin activities. By exon sequencing of the renin gene of the proband and of his son after PCR amplification, Villard et al. (1994) identified a point mutation in the last exon of the gene, exon 10. Mutation occurred at a position corresponding to codon 387 of the preprorenin cDNA. A C-to-T transition introduced a premature stop codon (TGA) in the renin gene sequence in place of the normal CGA (arg) at codon 387. The mutated allele should direct the synthesis of a truncated form of renin, with 20 amino acids deleted from the carboxyl terminus. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 RENAL TUBULAR DYSGENESIS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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REN, ARG49TER
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<br />
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SNP: rs121917741,
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gnomAD: rs121917741,
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ClinVar: RCV000014003, RCV001281274, RCV002496353, RCV004696635
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous family of North African extraction, Gribouval et al. (2005) found a 145C-T transition in exon 2 of the REN gene associated with renal tubular dysgenesis (267430). The mutation was predicted to cause an arg49-to-stop (R49X) protein change. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 RENAL TUBULAR DYSGENESIS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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REN, ARG230LYS
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<br />
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SNP: rs121917742,
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gnomAD: rs121917742,
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ClinVar: RCV000014004
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a consanguineous family of Tunisian origin, Gribouval et al. (2005) found that renal tubular dysgenesis (267430) was associated with a homozygous arg230-to-lys (R230K) mutation in renin. The amino acid substitution was caused by a 689G-A transition in exon 5. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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REN, 3-BP DEL, 45GCT
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<br />
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SNP: rs1571652012,
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ClinVar: RCV000014005, RCV002496354, RCV003565383
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In the proband from a 4-generation Belgian family segregating autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; 613092) originally reported by Stiburkova et al. (2003) as family BE1, Zivna et al. (2009) identified heterozygosity for a 3-bp deletion in exon 1 of the REN gene, predicted to result in the deletion of leu16 (L16del). The deletion was present in all affected individuals and was not found in unaffected family members or in 385 unrelated Caucasian controls. The identical mutation was present on a distinct haplotype in another family with hyperuricemic nephropathy (family B). Transfection and in vitro studies showed that L16del affected ER translocation and processing of nascent prorenin, resulting in reduction of renin biosynthesis and secretion. Cells stably expressing the L16del protein showed activated ER stress, unfolded protein response,and reduced growth rate. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
REN, LEU16ARG
|
|
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|
<br />
|
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|
|
SNP: rs121917743,
|
|
|
|
|
|
|
|
ClinVar: RCV000014006
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family of Portuguese origin (family C) with autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4; 613092), Zivna et al. (2009) identified a heterozygous c.47T-G transversion in exon 1 of the renin gene, predicted to result in a leu16-to-arg (L16R) substitution. Transfection and in vitro studies showed that L16R affected ER translocation and processing of nascent prorenin, abolishing renin biosynthesis and secretion. The mutation was not found in unaffected family members or in 185 Caucasian controls and 50 Portuguese controls. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RENAL TUBULAR DYSGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
REN, ARG43TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514690,
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|
|
|
|
|
gnomAD: rs397514690,
|
|
|
|
|
|
ClinVar: RCV000043472, RCV002496686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian girl, born of consanguineous parents, with renal tubular dysgenesis (267430), Gribouval et al. (2012) identified a homozygous c.127C-T transition in exon 2 of the REN gene, resulting in an arg43-to-ter (R43X) substitution. The girl died on the fourth day of life. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 RENAL TUBULAR DYSGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
REN, SER135TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514691,
|
|
|
|
|
|
|
|
ClinVar: RCV000043473
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous Algerian parents, with renal tubular dysgenesis (267430), Zingg-Schenk et al. (2008) identified a homozygous 404C-A transversion in exon 4 of the REN gene, resulting in a ser135-to-tyr (S135Y) substitution. The patient survived the neonatal period with peritoneal dialysis and underwent renal transplant at age 4 years. She showed normal psychomotor development at age 10 years. </p><p>Michaud et al. (2011) identified a homozygous S135Y mutation in a Moroccan infant with renal tubular dysgenesis who died in the first hour of life. The S135Y substitution corresponds to S69Y in the mature protein, and is located at a highly conserved residue close to the beginning of a lengthy beta-hairpin structure called the 'flap,' which is required for proper enzymatic function. In vitro functional expression studies suggested that the mutation resulted in abnormal secretion and intracellular protein degradation, likely due to incorrect protein folding. Secretion of some of the mutant protein could be partially restored by decreasing temperature and by proteasomal inhibition. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Field and Gross (1985); Fritz et al. (1986); Hardman et al. (1984);
|
|
Miyazaki et al. (1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Abel, K. J., Gross, K. W.
|
|
<strong>Close physical linkage of the murine Ren-1 and Ren-2 loci.</strong>
|
|
Nucleic Acids Res. 16: 2111-2126, 1988.
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|
|
[PubMed: 2833727]
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[Full Text: https://doi.org/10.1093/nar/16.5.2111]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Caron, K. M. I., James, L. R., Kim, H.-S., Knowles, J., Uhlir, R., Mao, L., Hagaman, J. R., Cascio, W., Rockman, H., Smithies, O.
|
|
<strong>Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 3106-3111, 2004.
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[PubMed: 14978280]
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[Full Text: https://doi.org/10.1073/pnas.0307333101]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chirgwin, J. M., Schaefer, I. M., Diaz, J. A., Lalley, P. A.
|
|
<strong>Mouse kidney renin gene is on chromosome one.</strong>
|
|
Somat. Cell Molec. Genet. 10: 633-637, 1984.
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[PubMed: 6095465]
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[Full Text: https://doi.org/10.1007/BF01535229]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Field, L. J., Gross, K. W.
|
|
<strong>Ren-1 and Ren-2 loci are expressed in mouse kidney.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 6196-6200, 1985.
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[PubMed: 3898081]
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[Full Text: https://doi.org/10.1073/pnas.82.18.6196]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fritz, L. C., Arfsten, A. E., Dzau, V. J., Atlas, S. A., Baxter, J. D., Fiddes, J. C., Shine, J., Cofer, C. L., Kushner, P., Ponte, P. A.
|
|
<strong>Characterization of human prorenin expressed in mammalian cells from cloned cDNA.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 4114-4118, 1986.
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[PubMed: 3520565]
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[Full Text: https://doi.org/10.1073/pnas.83.12.4114]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Frossard, P. M., Gonzalez, P. A., Fritz, L. C., Ponte, P. A., Fiddes, J. C., Atlas, S. A.
|
|
<strong>Two RFLPs at the human renin (ren) gene locus.</strong>
|
|
Nucleic Acids Res. 14: 4380 only, 1986.
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|
[PubMed: 3520482]
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[Full Text: https://doi.org/10.1093/nar/14.10.4380]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Frossard, P. M., Lestringant, G. G., Malloy, M. J., Kane, J. P.
|
|
<strong>Human renin gene BglI dimorphism associated with hypertension in two independent populations.</strong>
|
|
Clin. Genet. 56: 428-433, 1999.
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Cassandra L. Kniffin - updated : 5/1/2013<br>Marla J. F. O'Neill - updated : 10/15/2009<br>Jane Kelly - updated : 8/13/2007<br>Victor A. McKusick - updated : 9/27/2005<br>Patricia A. Hartz - updated : 9/6/2005<br>Victor A. McKusick - updated : 4/21/2004<br>Victor A. McKusick - updated : 2/3/2000
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Victor A. McKusick : 6/2/1986
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carol : 02/26/2025<br>carol : 02/22/2022<br>alopez : 02/09/2021<br>ckniffin : 01/26/2021<br>carol : 10/19/2017<br>carol : 05/02/2013<br>ckniffin : 5/2/2013<br>ckniffin : 5/1/2013<br>carol : 12/10/2010<br>wwang : 10/16/2009<br>terry : 10/15/2009<br>terry : 9/25/2008<br>wwang : 8/16/2007<br>alopez : 9/27/2005<br>terry : 9/27/2005<br>mgross : 9/6/2005<br>tkritzer : 4/27/2004<br>terry : 4/21/2004<br>mcapotos : 2/14/2000<br>mcapotos : 2/10/2000<br>terry : 2/3/2000<br>carol : 8/6/1999<br>terry : 6/11/1999<br>mimadm : 3/25/1995<br>carol : 2/2/1995<br>carol : 11/16/1993<br>carol : 8/31/1993<br>carol : 5/21/1993<br>carol : 5/7/1993
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