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<title>
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Entry
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- *611606 - MICRO RNA 96; MIR96
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*611606</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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<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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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>
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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/611606">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div 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=ENSG00000199158;t=ENST00000362288" 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=407053" 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=611606" 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=ENSG00000199158;t=ENST00000362288" 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</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NR_029512" 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://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611606" 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://www.proteinatlas.org/search/MIR96" 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>
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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=407053" 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=ENSG00000199158;t=ENST00000362288" 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=MIR96" 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=MIR96" 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+407053" 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/MIR96" 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:407053" 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/407053" 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=chr7&hgg_gene=ENST00000362288.1&hgg_start=129774692&hgg_end=129774769&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:31648" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611606[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=611606[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/ENSG00000199158" 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.gwascentral.org/search?q=MIR96" 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=MIR96" 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=MIR96&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/PA164723022" 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:31648" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:3619440" 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/MIR96#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:3619440" 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/407053/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=407053" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-MIRNAG-070111-4" 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:407053" 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>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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611606
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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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MICRO RNA 96; MIR96
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
miRNA96<br />
|
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MIRN96
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<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=MIR96" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MIR96</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>
|
|
Cytogenetic location: <a href="/geneMap/7/671?start=-3&limit=10&highlight=671">7q32.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:129774692-129774769&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'})">7:129,774,692-129,774,769</a> </span>
|
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</em>
|
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</strong>
|
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<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>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</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>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/7/671?start=-3&limit=10&highlight=671">
|
|
7q32.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Deafness, autosomal dominant 50
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/613074"> 613074 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611606" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611606" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
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<p>MicroRNAs (miRNAs), such as MIR96, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIR183 (<a href="/entry/611608">611608</a>), MIR96, and MIR182 (<a href="/entry/611607">611607</a>) are transcribed in tandem as a single polycistronic primary transcript (<a href="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using quantitative PCR and Northern blot analyses, <a href="#8" class="mim-tip-reference" title="Weston, M. D., Pierce, M. L., Rocha-Sanchez, S., Beisel, K. W., Soukup, G. A. <strong>MicroRNA gene expression in the mouse inner ear.</strong> Brain Res. 1111: 95-104, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16904081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16904081</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16904081">Weston et al. (2006)</a> detected expression of mature Mirn183, Mirn96, and Mirn182 in mouse inner ear, but not in brain or heart. RT-PCR detected the primary transcript encoding these miRNAs in inner ear and adult eye. In situ hybridization localized Mirn183, Mirn96, and Mirn182 expression to the inner and outer hair cells of the cochlea and in hair cells of the cristae, utricle, and saccule of the vestibular endorgans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16904081" 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>By microarray analysis and quantitative RT-PCR, <a href="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al. (2007)</a> found that Mirn183, Mirn96, and Mirn182 were highly expressed in adult mouse retina. Qualitative RT-PCR showed that these miRNAs exhibited at least a 10-fold increase in expression in mouse retina from postnatal day 1 to adult. In situ hybridization of adult mouse retina revealed expression of these miRNAs in photoreceptors and interneurons in the inner nuclear layer, with little or no expression in the ganglion cell layer. RT-PCR also showed expression of Mirn183, Mirn96, and Mirn182 in mouse olfactory epithelium and lingual epithelium. <a href="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al. (2007)</a> noted that Mirn183, Mirn96, and Mirn182 share significant identity, particularly in their seed sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" 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="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al. (2007)</a> observed circadian variation in expression of Mirn182 and Mirn96 that was nearly inverse to that of Adcy6 (<a href="/entry/600294">600294</a>), a putative target mRNA. Reporter gene assays confirmed that Mirn182 and Mirn96 targeted the 3-prime UTR of Adcy6. The 3-prime UTR of Mitf (<a href="/entry/156845">156845</a>) also contains putative Mirn182- and Mirn96-binding sites, and expression of an Mitf reporter was reduced in the presence of Mirn182 or Mirn96. A lack of additive inhibition when the 2 miRNAs were cotransfected suggested that they compete for the same target sites in Adcy6 and Mitf. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using expression arrays and quantitative RT-PCR, <a href="#1" class="mim-tip-reference" title="Krol, J., Busskamp, V., Markiewicz, I., Stadler, M. B., Ribi, S., Richter, J., Duebel, J., Bicker, S., Fehling, H. J., Schubeler, D., Oertner, T. G., Schratt, G., Bibel, M., Roska, B., Filipowicz, W. <strong>Characterizing light-regulated retinal microRNAs reveals rapid turnover as a common property of neuronal microRNAs.</strong> Cell 141: 618-631, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20478254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20478254</a>] [<a href="https://doi.org/10.1016/j.cell.2010.03.039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20478254">Krol et al. (2010)</a> showed that expression of Mir211 (<a href="/entry/613753">613753</a>), Mir204 (<a href="/entry/610942">610942</a>), and the Mir183/Mir96/Mir182 cluster was reversibly up- and downregulated in mouse retina during light and dark adaptation, respectively. Increased accumulation of these miRNAs upon light adaptation occurred independently of circadian rhythm. The half-lives of these and other miRNAs appeared to be much shorter in retinal neurons than in rod bipolar cells or Muller glia cells. Similar rapid miRNA decay was observed in cultured rodent neurons and mouse embryonic stem cell-derived neurons. Inhibitor studies revealed that miRNA turnover was stimulated by neuronal activity. In silico analysis identified Atp1b3 (<a href="/entry/601867">601867</a>), Slc1a1 (<a href="/entry/133550">133550</a>), and Paip2b (<a href="/entry/611018">611018</a>) as potential targets of the Mir183/Mir96/Mir182 cluster in retina. Expression of Slc1a1 increased with dark adaptation in mouse retina, concomitant with low expression of Mir183/Mir96/Mir182. Reporter gene assays and other studies confirmed regulation of Slc1a1 mRNA by the Mir183/Mir96/Mir182 cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20478254" 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="Upton, J.-P., Wang, L., Han, D., Wang, E. S., Huskey, N. E., Lim, L., Truitt, M., McManus, M. T., Ruggero, D., Goga, A., Papa, F. R., Oakes, S. A. <strong>IRE1-alpha cleaves select microRNAs during ER stress to derepress translation of proapoptotic caspase-2.</strong> Science 338: 818-822, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23042294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23042294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23042294[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/10.1126/science.1226191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23042294">Upton et al. (2012)</a> found that sustained IRE1-alpha (<a href="/entry/604033">604033</a>) RNase activation caused rapid decay of select microRNAs (miR17, <a href="/entry/609416">609416</a>; miR34a, <a href="/entry/611172">611172</a>; miR96; and miR125b, <a href="/entry/610105">610105</a>) that normally repress translation of caspase-2 (<a href="/entry/600639">600639</a>) mRNA, and thus sharply elevated protein levels of this initiator protease of the mitochondrial apoptotic pathway. In cell-free systems, recombinant IRE1-alpha endonucleolytically cleaved microRNA precursors at sites distinct from DICER (<a href="/entry/606241">606241</a>). Thus, <a href="#6" class="mim-tip-reference" title="Upton, J.-P., Wang, L., Han, D., Wang, E. S., Huskey, N. E., Lim, L., Truitt, M., McManus, M. T., Ruggero, D., Goga, A., Papa, F. R., Oakes, S. A. <strong>IRE1-alpha cleaves select microRNAs during ER stress to derepress translation of proapoptotic caspase-2.</strong> Science 338: 818-822, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23042294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23042294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23042294[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/10.1126/science.1226191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23042294">Upton et al. (2012)</a> concluded that IRE1-alpha regulates translation of a proapoptotic protein through terminating microRNA biogenesis, and noncoding RNAs are a part of the endoplasmic reticulum stress response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23042294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Wang, L., Jia, X.-J., Jiang, H.-J., Du, Y., Yang, F., Si, S.-Y., Hong, B. <strong>MicroRNAs 185, 96, and 223 repress selective high-density lipoprotein cholesterol uptake through posttranscriptional inhibition.</strong> Molec. Cell. Biol. 33: 1956-1964, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23459944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23459944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23459944[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/10.1128/MCB.01580-12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23459944">Wang et al. (2013)</a> found that MIR185 (<a href="/entry/615576">615576</a>), MIR96, and MIR223 (<a href="/entry/300694">300694</a>) downregulated expression of the hepatic scavenger receptor SRBI (SCARB1; <a href="/entry/601040">601040</a>), which has a role in uptake of high density lipoprotein cholesterol (HDLC) in human hepatic cell lines. The 3-prime UTR of SRBI contains independent binding sites for MIR96, MIR185, and MIR223, and the 3 miRNAs showed an additive effect in inhibiting expression of a reporter gene containing the SRBI 3-prime UTR. Transfection of MIR185 and MIR96 mimics, but not an MIR223 mimic, markedly reduced SRBI mRNA levels in phorbol ester-stimulated human THP-1 macrophage-like cells and suppressed HDLC uptake. In apoE (<a href="/entry/107741">107741</a>)-knockout mice on a high-fat diet, elevated hepatic Srbi coincided with decreased Mir96 and Mir185 content (the 3-prime UTR of rodent Srbi does not have an Mir223 target site). <a href="#7" class="mim-tip-reference" title="Wang, L., Jia, X.-J., Jiang, H.-J., Du, Y., Yang, F., Si, S.-Y., Hong, B. <strong>MicroRNAs 185, 96, and 223 repress selective high-density lipoprotein cholesterol uptake through posttranscriptional inhibition.</strong> Molec. Cell. Biol. 33: 1956-1964, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23459944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23459944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23459944[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/10.1128/MCB.01580-12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23459944">Wang et al. (2013)</a> concluded that these miRNAs have a role in regulating cholesterol uptake by repressing expression of SRBI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23459944" 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="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al. (2007)</a> determined that the MIRN183-MIRN96-MIRN182 cluster spans about 4.3 kb. The 5-prime upstream region contains a CpG island and has binding sites for sensory organ-related transcription factors, including OLF1 (EBF; <a href="/entry/164343">164343</a>), OTX1 (<a href="/entry/600036">600036</a>), and PAX2 (<a href="/entry/167409">167409</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" 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 genomic sequence analysis, <a href="#9" class="mim-tip-reference" title="Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D. <strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong> J. Biol. Chem. 282: 25053-25066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>] [<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17597072">Xu et al. (2007)</a> mapped the MIRN183-MIRN96-MIRN182 cluster to chromosome 7q32.2. They mapped the mouse cluster to a region of chromosome 6A3 that shares homology of synteny with human chromosome 7q32.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" 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="#3" class="mim-tip-reference" title="Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A. <strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong> Nature Genet. 41: 609-613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363479</a>] [<a href="https://doi.org/10.1038/ng.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363479">Mencia et al. (2009)</a> identified heterozygous point mutations in the seed region of MIR96, a miRNA expressed in hair cells of the inner ear, that result in autosomal dominant progressive hearing loss. The identified mutations have a strong impact on MIR96 biogenesis and result in a significant reduction of mRNA targeting. <a href="#3" class="mim-tip-reference" title="Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A. <strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong> Nature Genet. 41: 609-613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363479</a>] [<a href="https://doi.org/10.1038/ng.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363479">Mencia et al. (2009)</a> proposed that these mutations alter the regulatory role of MIR96 in maintaining gene expression profiles in hair cells required for their normal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363479" 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="#2" class="mim-tip-reference" title="Lewis, M. A., Quint, E., Glazier, A. M., Fuchs, H., De Angelis, M. H., Langford, C., van Dongen, S., Abreu-Goodger, C., Piipari, M., Redshaw, N., Dalmay, T., Moreno-Pelayo, M. A., Enright, A. J., Steel, K. P. <strong>An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.</strong> Nature Genet. 41: 614-618, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19363478[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/10.1038/ng.369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363478">Lewis et al. (2009)</a> reported a new ENU-induced mouse mutant, 'diminuendo' (Dmdo), with a single base change in the seed region of Mirn96. Heterozygotes showed progressive loss of hearing and hair cell anomalies, whereas homozygotes had no cochlear responses. Most microRNAs are believed to downregulate target genes by binding to specific sites on their mRNAs, so mutation of the seed should lead to target gene upregulation. Microarray analysis revealed 96 transcripts with significantly altered expression in homozygotes; notably, Slc26a5 (<a href="/entry/604943">604943</a>), Ocm (<a href="/entry/164795">164795</a>), Gfi1 (<a href="/entry/600871">600871</a>), Ptprq (<a href="/entry/603317">603317</a>), and Pitpnm1 (<a href="/entry/608794">608794</a>) were downregulated. Hypergeometric P-value analysis showed that hundreds of genes were upregulated in mutants. Different genes, with target sites complementary to the mutant seed, were downregulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Schluter, T., Berger, C., Rosengauer, E., Fieth, P., Krohs, C., Ushakov, K., Steel, K. P., Avraham, K. B., Hartmann, A. K., Felmy, F., Nothwang, H. G. <strong>miR-96 is required for normal development of the auditory hindbrain.</strong> Hum. Molec. Genet. 27: 860-874, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29325119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29325119</a>] [<a href="https://doi.org/10.1093/hmg/ddy007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29325119">Schluter et al. (2018)</a> analyzed homozygous Dmdo/Dmdo mice and found a significant reduction in size of auditory hindbrain nuclei due to decreased cell size compared with wildtype littermates, pointing to developmental arrest in Dmdo/Dmdo mice. Further analysis showed that these effects were an auditory-specific effect of the Dmdo mutation, not a broader phenomenon. Electrophysiologic analysis in medial nucleus of the trapezoid body (MNTB) showed that the Dmdo mutation selectively affected firing behavior in MNTB neurons, as more neurons in Dmdo/Dmdo MNTB responded with a sustained firing pattern upon depolarization compared with the single-firing pattern in control animals. Immunoreactivity analysis demonstrated that this observed firing pattern was due to reduced expression of voltage-gated potassium channels in Dmdo/Dmdo mice. Immunolabeling of synaptic vesicle glycoprotein-2 (SV2A; <a href="/entry/185860">185860</a>) showed that the mature synaptic structure of Dmdo/Dmdo calyx of Held had morphologic changes that caused arrested synapse development, altering the short-term plasticity at high frequencies in synaptic transmission and thereby affecting evoked synaptic transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29325119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611606[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a large 5-generation Spanish family segregating autosomal dominant nonsyndromic progressive hearing loss (DFNA50; <a href="/entry/613074">613074</a>), initially described by <a href="#4" class="mim-tip-reference" title="Modamio-Hoybjor, S., Moreno-Pelayo, M. A., Mencia, A., del Castillo, I., Chardenoux, S., Morais, D., Lathrop, M., Petit, C., Moreno, F. <strong>A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.</strong> J. Med. Genet. 41: e14, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757864</a>] [<a href="https://doi.org/10.1136/jmg.2003.012500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14757864">Modamio-Hoybjor et al. (2004)</a>, <a href="#3" class="mim-tip-reference" title="Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A. <strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong> Nature Genet. 41: 609-613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363479</a>] [<a href="https://doi.org/10.1038/ng.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363479">Mencia et al. (2009)</a> identified a heterozygous G-to-A transition at nucleotide 13 of the MIR96 precursor sequence. The mutation replaced the fourth nucleotide within the conserved 7-nucleotide seed region of the mature sequence. This mutation segregated absolutely with the phenotype in the family and was not detected in 462 unrelated normal-hearing Spanish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14757864+19363479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 3-generation Spanish family segregating nonsyndromic progressive autosomal dominant hearing loss (DFNA50; <a href="/entry/613074">613074</a>), <a href="#3" class="mim-tip-reference" title="Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A. <strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong> Nature Genet. 41: 609-613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363479</a>] [<a href="https://doi.org/10.1038/ng.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363479">Mencia et al. (2009)</a> identified a heterozygous C-to-A transition at nucleotide 14 of the MIR96 precursor sequence. This variant replaces the fifth nucleotide of the conserved seed region of the mature sequence. This mutation segregated with the phenotype in the family and was not identified in 462 normal-hearing Spanish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363479" 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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Krol, J., Busskamp, V., Markiewicz, I., Stadler, M. B., Ribi, S., Richter, J., Duebel, J., Bicker, S., Fehling, H. J., Schubeler, D., Oertner, T. G., Schratt, G., Bibel, M., Roska, B., Filipowicz, W.
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<strong>Characterizing light-regulated retinal microRNAs reveals rapid turnover as a common property of neuronal microRNAs.</strong>
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Cell 141: 618-631, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20478254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20478254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20478254" 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.cell.2010.03.039" target="_blank">Full Text</a>]
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Lewis, M. A., Quint, E., Glazier, A. M., Fuchs, H., De Angelis, M. H., Langford, C., van Dongen, S., Abreu-Goodger, C., Piipari, M., Redshaw, N., Dalmay, T., Moreno-Pelayo, M. A., Enright, A. J., Steel, K. P.
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<strong>An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.</strong>
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Nature Genet. 41: 614-618, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19363478[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=19363478" 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/10.1038/ng.369" target="_blank">Full Text</a>]
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Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A.
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<strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong>
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Nature Genet. 41: 609-613, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363479" 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/10.1038/ng.355" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Modamio-Hoybjor2004" class="mim-anchor"></a>
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<div class="">
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Modamio-Hoybjor, S., Moreno-Pelayo, M. A., Mencia, A., del Castillo, I., Chardenoux, S., Morais, D., Lathrop, M., Petit, C., Moreno, F.
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<strong>A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.</strong>
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J. Med. Genet. 41: e14, 2004. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757864" 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/10.1136/jmg.2003.012500" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Schluter2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schluter, T., Berger, C., Rosengauer, E., Fieth, P., Krohs, C., Ushakov, K., Steel, K. P., Avraham, K. B., Hartmann, A. K., Felmy, F., Nothwang, H. G.
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<strong>miR-96 is required for normal development of the auditory hindbrain.</strong>
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Hum. Molec. Genet. 27: 860-874, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29325119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29325119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29325119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddy007" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Upton2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Upton, J.-P., Wang, L., Han, D., Wang, E. S., Huskey, N. E., Lim, L., Truitt, M., McManus, M. T., Ruggero, D., Goga, A., Papa, F. R., Oakes, S. A.
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<strong>IRE1-alpha cleaves select microRNAs during ER stress to derepress translation of proapoptotic caspase-2.</strong>
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Science 338: 818-822, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23042294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23042294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23042294[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=23042294" 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/10.1126/science.1226191" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Wang2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, L., Jia, X.-J., Jiang, H.-J., Du, Y., Yang, F., Si, S.-Y., Hong, B.
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<strong>MicroRNAs 185, 96, and 223 repress selective high-density lipoprotein cholesterol uptake through posttranscriptional inhibition.</strong>
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Molec. Cell. Biol. 33: 1956-1964, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23459944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23459944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23459944[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=23459944" 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/10.1128/MCB.01580-12" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Weston2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weston, M. D., Pierce, M. L., Rocha-Sanchez, S., Beisel, K. W., Soukup, G. A.
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<strong>MicroRNA gene expression in the mouse inner ear.</strong>
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Brain Res. 1111: 95-104, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16904081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16904081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16904081" 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.brainres.2006.07.006" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Xu2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D.
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<strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong>
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J. Biol. Chem. 282: 25053-25066, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17597072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17597072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17597072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M700501200" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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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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Bao Lige - updated : 08/15/2018
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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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Patricia A. Hartz - updated : 12/19/2013<br>Ada Hamosh - updated : 1/14/2013<br>Patricia A. Hartz - updated : 1/6/2011<br>Ada Hamosh - updated : 10/2/2009
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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="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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Patricia A. Hartz : 11/20/2007
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/15/2018
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/15/2014<br>mgross : 12/19/2013<br>mcolton : 12/19/2013<br>alopez : 1/14/2013<br>mgross : 10/20/2011<br>mgross : 2/21/2011<br>terry : 1/6/2011<br>terry : 10/21/2009<br>alopez : 10/8/2009<br>terry : 10/2/2009<br>mgross : 11/20/2007
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611606
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MICRO RNA 96; MIR96
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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miRNA96<br />
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MIRN96
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</span>
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</h4>
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<div>
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<br />
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MIR96</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 7q32.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:129,774,692-129,774,769 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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7q32.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Deafness, autosomal dominant 50
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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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613074
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>MicroRNAs (miRNAs), such as MIR96, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIR183 (611608), MIR96, and MIR182 (611607) are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007). </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>Using quantitative PCR and Northern blot analyses, Weston et al. (2006) detected expression of mature Mirn183, Mirn96, and Mirn182 in mouse inner ear, but not in brain or heart. RT-PCR detected the primary transcript encoding these miRNAs in inner ear and adult eye. In situ hybridization localized Mirn183, Mirn96, and Mirn182 expression to the inner and outer hair cells of the cochlea and in hair cells of the cristae, utricle, and saccule of the vestibular endorgans. </p><p>By microarray analysis and quantitative RT-PCR, Xu et al. (2007) found that Mirn183, Mirn96, and Mirn182 were highly expressed in adult mouse retina. Qualitative RT-PCR showed that these miRNAs exhibited at least a 10-fold increase in expression in mouse retina from postnatal day 1 to adult. In situ hybridization of adult mouse retina revealed expression of these miRNAs in photoreceptors and interneurons in the inner nuclear layer, with little or no expression in the ganglion cell layer. RT-PCR also showed expression of Mirn183, Mirn96, and Mirn182 in mouse olfactory epithelium and lingual epithelium. Xu et al. (2007) noted that Mirn183, Mirn96, and Mirn182 share significant identity, particularly in their seed sequences. </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>Xu et al. (2007) observed circadian variation in expression of Mirn182 and Mirn96 that was nearly inverse to that of Adcy6 (600294), a putative target mRNA. Reporter gene assays confirmed that Mirn182 and Mirn96 targeted the 3-prime UTR of Adcy6. The 3-prime UTR of Mitf (156845) also contains putative Mirn182- and Mirn96-binding sites, and expression of an Mitf reporter was reduced in the presence of Mirn182 or Mirn96. A lack of additive inhibition when the 2 miRNAs were cotransfected suggested that they compete for the same target sites in Adcy6 and Mitf. </p><p>Using expression arrays and quantitative RT-PCR, Krol et al. (2010) showed that expression of Mir211 (613753), Mir204 (610942), and the Mir183/Mir96/Mir182 cluster was reversibly up- and downregulated in mouse retina during light and dark adaptation, respectively. Increased accumulation of these miRNAs upon light adaptation occurred independently of circadian rhythm. The half-lives of these and other miRNAs appeared to be much shorter in retinal neurons than in rod bipolar cells or Muller glia cells. Similar rapid miRNA decay was observed in cultured rodent neurons and mouse embryonic stem cell-derived neurons. Inhibitor studies revealed that miRNA turnover was stimulated by neuronal activity. In silico analysis identified Atp1b3 (601867), Slc1a1 (133550), and Paip2b (611018) as potential targets of the Mir183/Mir96/Mir182 cluster in retina. Expression of Slc1a1 increased with dark adaptation in mouse retina, concomitant with low expression of Mir183/Mir96/Mir182. Reporter gene assays and other studies confirmed regulation of Slc1a1 mRNA by the Mir183/Mir96/Mir182 cluster. </p><p>Upton et al. (2012) found that sustained IRE1-alpha (604033) RNase activation caused rapid decay of select microRNAs (miR17, 609416; miR34a, 611172; miR96; and miR125b, 610105) that normally repress translation of caspase-2 (600639) mRNA, and thus sharply elevated protein levels of this initiator protease of the mitochondrial apoptotic pathway. In cell-free systems, recombinant IRE1-alpha endonucleolytically cleaved microRNA precursors at sites distinct from DICER (606241). Thus, Upton et al. (2012) concluded that IRE1-alpha regulates translation of a proapoptotic protein through terminating microRNA biogenesis, and noncoding RNAs are a part of the endoplasmic reticulum stress response. </p><p>Wang et al. (2013) found that MIR185 (615576), MIR96, and MIR223 (300694) downregulated expression of the hepatic scavenger receptor SRBI (SCARB1; 601040), which has a role in uptake of high density lipoprotein cholesterol (HDLC) in human hepatic cell lines. The 3-prime UTR of SRBI contains independent binding sites for MIR96, MIR185, and MIR223, and the 3 miRNAs showed an additive effect in inhibiting expression of a reporter gene containing the SRBI 3-prime UTR. Transfection of MIR185 and MIR96 mimics, but not an MIR223 mimic, markedly reduced SRBI mRNA levels in phorbol ester-stimulated human THP-1 macrophage-like cells and suppressed HDLC uptake. In apoE (107741)-knockout mice on a high-fat diet, elevated hepatic Srbi coincided with decreased Mir96 and Mir185 content (the 3-prime UTR of rodent Srbi does not have an Mir223 target site). Wang et al. (2013) concluded that these miRNAs have a role in regulating cholesterol uptake by repressing expression of SRBI. </p>
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<strong>Gene Structure</strong>
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<p>Xu et al. (2007) determined that the MIRN183-MIRN96-MIRN182 cluster spans about 4.3 kb. The 5-prime upstream region contains a CpG island and has binding sites for sensory organ-related transcription factors, including OLF1 (EBF; 164343), OTX1 (600036), and PAX2 (167409). </p>
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<strong>Mapping</strong>
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<p>By genomic sequence analysis, Xu et al. (2007) mapped the MIRN183-MIRN96-MIRN182 cluster to chromosome 7q32.2. They mapped the mouse cluster to a region of chromosome 6A3 that shares homology of synteny with human chromosome 7q32.2. </p>
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<strong>Molecular Genetics</strong>
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<p>Mencia et al. (2009) identified heterozygous point mutations in the seed region of MIR96, a miRNA expressed in hair cells of the inner ear, that result in autosomal dominant progressive hearing loss. The identified mutations have a strong impact on MIR96 biogenesis and result in a significant reduction of mRNA targeting. Mencia et al. (2009) proposed that these mutations alter the regulatory role of MIR96 in maintaining gene expression profiles in hair cells required for their normal function. </p>
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<strong>Animal Model</strong>
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<p>Lewis et al. (2009) reported a new ENU-induced mouse mutant, 'diminuendo' (Dmdo), with a single base change in the seed region of Mirn96. Heterozygotes showed progressive loss of hearing and hair cell anomalies, whereas homozygotes had no cochlear responses. Most microRNAs are believed to downregulate target genes by binding to specific sites on their mRNAs, so mutation of the seed should lead to target gene upregulation. Microarray analysis revealed 96 transcripts with significantly altered expression in homozygotes; notably, Slc26a5 (604943), Ocm (164795), Gfi1 (600871), Ptprq (603317), and Pitpnm1 (608794) were downregulated. Hypergeometric P-value analysis showed that hundreds of genes were upregulated in mutants. Different genes, with target sites complementary to the mutant seed, were downregulated. </p><p>Schluter et al. (2018) analyzed homozygous Dmdo/Dmdo mice and found a significant reduction in size of auditory hindbrain nuclei due to decreased cell size compared with wildtype littermates, pointing to developmental arrest in Dmdo/Dmdo mice. Further analysis showed that these effects were an auditory-specific effect of the Dmdo mutation, not a broader phenomenon. Electrophysiologic analysis in medial nucleus of the trapezoid body (MNTB) showed that the Dmdo mutation selectively affected firing behavior in MNTB neurons, as more neurons in Dmdo/Dmdo MNTB responded with a sustained firing pattern upon depolarization compared with the single-firing pattern in control animals. Immunoreactivity analysis demonstrated that this observed firing pattern was due to reduced expression of voltage-gated potassium channels in Dmdo/Dmdo mice. Immunolabeling of synaptic vesicle glycoprotein-2 (SV2A; 185860) showed that the mature synaptic structure of Dmdo/Dmdo calyx of Held had morphologic changes that caused arrested synapse development, altering the short-term plasticity at high frequencies in synaptic transmission and thereby affecting evoked synaptic transmission. </p>
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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>2 Selected Examples):</strong>
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</h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL DOMINANT 50</strong>
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MIR96, 13G-A
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SNP: rs587776522,
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ClinVar: RCV000000913
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<p>In a large 5-generation Spanish family segregating autosomal dominant nonsyndromic progressive hearing loss (DFNA50; 613074), initially described by Modamio-Hoybjor et al. (2004), Mencia et al. (2009) identified a heterozygous G-to-A transition at nucleotide 13 of the MIR96 precursor sequence. The mutation replaced the fourth nucleotide within the conserved 7-nucleotide seed region of the mature sequence. This mutation segregated absolutely with the phenotype in the family and was not detected in 462 unrelated normal-hearing Spanish controls. </p>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL DOMINANT 50</strong>
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MIR96, 14C-A
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SNP: rs587776523,
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ClinVar: RCV000000914
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<span class="mim-text-font">
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<p>In a 3-generation Spanish family segregating nonsyndromic progressive autosomal dominant hearing loss (DFNA50; 613074), Mencia et al. (2009) identified a heterozygous C-to-A transition at nucleotide 14 of the MIR96 precursor sequence. This variant replaces the fifth nucleotide of the conserved seed region of the mature sequence. This mutation segregated with the phenotype in the family and was not identified in 462 normal-hearing Spanish controls. </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>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Krol, J., Busskamp, V., Markiewicz, I., Stadler, M. B., Ribi, S., Richter, J., Duebel, J., Bicker, S., Fehling, H. J., Schubeler, D., Oertner, T. G., Schratt, G., Bibel, M., Roska, B., Filipowicz, W.
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<strong>Characterizing light-regulated retinal microRNAs reveals rapid turnover as a common property of neuronal microRNAs.</strong>
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Cell 141: 618-631, 2010.
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[PubMed: 20478254]
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[Full Text: https://doi.org/10.1016/j.cell.2010.03.039]
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</li>
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<li>
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Lewis, M. A., Quint, E., Glazier, A. M., Fuchs, H., De Angelis, M. H., Langford, C., van Dongen, S., Abreu-Goodger, C., Piipari, M., Redshaw, N., Dalmay, T., Moreno-Pelayo, M. A., Enright, A. J., Steel, K. P.
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<strong>An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.</strong>
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Nature Genet. 41: 614-618, 2009.
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[PubMed: 19363478]
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[Full Text: https://doi.org/10.1038/ng.369]
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</li>
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<li>
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<p class="mim-text-font">
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Mencia, A., Modamio-Hoybjor, S., Redshaw, N., Morin, M., Mayo-Merino, F., Olavarrieta, L., Aguirre, L. A., del Castillo, I., Steel, K. P., Dalmay, T., Moreno, F., Moreno-Pelayo, M. A.
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<strong>Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.</strong>
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Nature Genet. 41: 609-613, 2009.
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[PubMed: 19363479]
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[Full Text: https://doi.org/10.1038/ng.355]
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<li>
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<p class="mim-text-font">
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Modamio-Hoybjor, S., Moreno-Pelayo, M. A., Mencia, A., del Castillo, I., Chardenoux, S., Morais, D., Lathrop, M., Petit, C., Moreno, F.
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<strong>A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.</strong>
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J. Med. Genet. 41: e14, 2004. Note: Electronic Article.
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[PubMed: 14757864]
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[Full Text: https://doi.org/10.1136/jmg.2003.012500]
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Schluter, T., Berger, C., Rosengauer, E., Fieth, P., Krohs, C., Ushakov, K., Steel, K. P., Avraham, K. B., Hartmann, A. K., Felmy, F., Nothwang, H. G.
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<strong>miR-96 is required for normal development of the auditory hindbrain.</strong>
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Hum. Molec. Genet. 27: 860-874, 2018.
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[PubMed: 29325119]
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[Full Text: https://doi.org/10.1093/hmg/ddy007]
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<p class="mim-text-font">
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Upton, J.-P., Wang, L., Han, D., Wang, E. S., Huskey, N. E., Lim, L., Truitt, M., McManus, M. T., Ruggero, D., Goga, A., Papa, F. R., Oakes, S. A.
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<strong>IRE1-alpha cleaves select microRNAs during ER stress to derepress translation of proapoptotic caspase-2.</strong>
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Science 338: 818-822, 2012.
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[PubMed: 23042294]
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[Full Text: https://doi.org/10.1126/science.1226191]
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<li>
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<p class="mim-text-font">
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Wang, L., Jia, X.-J., Jiang, H.-J., Du, Y., Yang, F., Si, S.-Y., Hong, B.
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<strong>MicroRNAs 185, 96, and 223 repress selective high-density lipoprotein cholesterol uptake through posttranscriptional inhibition.</strong>
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Molec. Cell. Biol. 33: 1956-1964, 2013.
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[PubMed: 23459944]
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[Full Text: https://doi.org/10.1128/MCB.01580-12]
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Weston, M. D., Pierce, M. L., Rocha-Sanchez, S., Beisel, K. W., Soukup, G. A.
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<strong>MicroRNA gene expression in the mouse inner ear.</strong>
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Brain Res. 1111: 95-104, 2006.
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[PubMed: 16904081]
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[Full Text: https://doi.org/10.1016/j.brainres.2006.07.006]
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<p class="mim-text-font">
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Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B., Valle, D.
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<strong>MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.</strong>
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J. Biol. Chem. 282: 25053-25066, 2007.
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[PubMed: 17597072]
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[Full Text: https://doi.org/10.1074/jbc.M700501200]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Bao Lige - updated : 08/15/2018<br>Patricia A. Hartz - updated : 12/19/2013<br>Ada Hamosh - updated : 1/14/2013<br>Patricia A. Hartz - updated : 1/6/2011<br>Ada Hamosh - updated : 10/2/2009
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 11/20/2007
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<span class="text-nowrap mim-text-font">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/15/2018<br>carol : 06/15/2014<br>mgross : 12/19/2013<br>mcolton : 12/19/2013<br>alopez : 1/14/2013<br>mgross : 10/20/2011<br>mgross : 2/21/2011<br>terry : 1/6/2011<br>terry : 10/21/2009<br>alopez : 10/8/2009<br>terry : 10/2/2009<br>mgross : 11/20/2007
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