3821 lines
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Entry
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- *603024 - AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603024</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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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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<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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<a href="#geneFunction">Gene Function</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603024">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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 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=ENSG00000117713;t=ENST00000324856" 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=8289" 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=603024" 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 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=ENSG00000117713;t=ENST00000324856" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_006015,NM_139135" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_006015" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603024" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04319&isoform_id=04319_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ARID1A" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/2588991,5689365,7688955,8489817,11320942,13195757,14042120,14042163,14042494,14150463,21264565,21264575,22597104,22760714,62898111,68533099,73920185,119628198,119628199,119628200,119628201,119628202,133777654,953835461" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O14497" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8289" 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=ENSG00000117713;t=ENST00000324856" 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=ARID1A" 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=ARID1A" 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+8289" 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/ARID1A" 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:8289" 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/8289" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000324856.13&hgg_start=26696015&hgg_end=26782104&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 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/gene-dosage/HGNC:11110" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11110" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/arid1a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603024[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=603024[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ARID1A/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000117713" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ARID1A" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ARID1A" 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=ARID1A" 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="http://www.LOVD.nl/ARID1A" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ARID1A&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/PA35960" 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:11110" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0261885.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1935147" 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/ARID1A#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:1935147" 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/8289/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=8289" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002717;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-5725" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:603024" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:8289" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ARID1A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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603024
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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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AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A
|
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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>
|
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<span class="mim-font">
|
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ARID-CONTAINING PROTEIN 1A<br />
|
|
SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY F, MEMBER 1; SMARCF1<br />
|
|
BRG1-ASSOCIATED FACTOR, 250-KD, A; BAF250A<br />
|
|
CHROMOSOME 1 OPEN READING FRAME 4; C1ORF4<br />
|
|
B120 GENE; B120<br />
|
|
p270
|
|
</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=ARID1A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARID1A</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/326?start=-3&limit=10&highlight=326">1p36.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:26696015-26782104&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:26,696,015-26,782,104</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/326?start=-3&limit=10&highlight=326">
|
|
1p36.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Coffin-Siris syndrome 2
|
|
|
|
</span>
|
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>ARID1A is a unique component of the BRG1 (SMARCA4; <a href="/entry/603254">603254</a>)-associated factor (BAF) chromatin remodeling complex that facilitates gene activation by assisting transcription machinery to gain access to gene targets (<a href="#14" class="mim-tip-reference" title="Nie, Z., Xue, Y., Yang, D., Zhou, S., Deroo, B. J., Archer, T. K., Wang, W. <strong>A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.</strong> Molec. Cell. Biol. 20: 8879-8888, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11073988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11073988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11073988[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.20.23.8879-8888.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11073988">Nie et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11073988" 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="#18" class="mim-tip-reference" title="Takeuchi, T., Chen, B. K., Qiu, Y., Sonobe, H., Ohtsuki, Y. <strong>Molecular cloning and expression of a novel human cDNA containing CAG repeats.</strong> Gene 204: 71-77, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434167</a>] [<a href="https://doi.org/10.1016/s0378-1119(97)00525-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9434167">Takeuchi et al. (1997)</a> reported a novel human cDNA encoding ARID1A, which they designated B120. B120 contains many repeat units, loosely identified as YXQQP, present in several human RNA-binding proteins. The B120 gene product is a 120-kD cytoplasmic protein expressed in various tissues including skeletal muscle, brain, and spleen. B120 has a CAG repeat length polymorphism, usually 7 repeats, encoding polyglutamine amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434167" 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 antibody against human p270 to screen a HeLa cell expression cDNA library, followed by screening a second HeLa cell library and 5-prime RACE of a WI-38 human fibroblast library, <a href="#4" class="mim-tip-reference" title="Dallas, P. B., Pacchione, S., Wilsker, D., Bowrin, V., Kobayashi, R., Moran, E. <strong>The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity.</strong> Molec. Cell. Biol. 20: 3137-3146, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10757798[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.20.9.3137-3146.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757798">Dallas et al. (2000)</a> obtained a partial cDNA encoding about 95% of the ARID1A protein, which they called p270. The deduced protein, which is N-terminally truncated, has a glutamine (Q)-rich N-terminal region, followed by an ARID domain, a second Q-rich region, and multiple copies of an LxxLL motif near the C terminus. Northern blot analysis revealed variable expression of an approximately 8.0-kb transcript in all tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10757798" 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 sequencing peptides immunoaffinity purified with BRG1 from human cell line nuclear extracts, followed by EST database analysis and screening a Jurkat T-cell cDNA library, <a href="#14" class="mim-tip-reference" title="Nie, Z., Xue, Y., Yang, D., Zhou, S., Deroo, B. J., Archer, T. K., Wang, W. <strong>A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.</strong> Molec. Cell. Biol. 20: 8879-8888, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11073988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11073988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11073988[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.20.23.8879-8888.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11073988">Nie et al. (2000)</a> cloned full-length ARID1A, which they called BAF250. They noted that the B120 cDNA reported by <a href="#18" class="mim-tip-reference" title="Takeuchi, T., Chen, B. K., Qiu, Y., Sonobe, H., Ohtsuki, Y. <strong>Molecular cloning and expression of a novel human cDNA containing CAG repeats.</strong> Gene 204: 71-77, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434167</a>] [<a href="https://doi.org/10.1016/s0378-1119(97)00525-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9434167">Takeuchi et al. (1997)</a> contains an unspliced intron at its 5-prime end and a sequencing error, resulting in a frameshift at its 3-prime end. The deduced 2,285-amino acid full-length BAF250 protein is rich in glutamine, proline, and alanine, and it shares 3 regions of conservation with its yeast and fly orthologs, including the ARID domain and 2 C-terminal regions containing LxxLL motifs. Swi1 is the closest ortholog of BAF250 in yeast. Northern blot analysis revealed wide expression of a 9.5-kb BAF250 transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11073988+9434167" 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>To examine the function of B120, <a href="#19" class="mim-tip-reference" title="Takeuchi, T., Furihata, M., Heng, H. H. Q., Sonobe, H., Ohtsuki, Y. <strong>Chromosomal mapping and expression of the human B120 gene.</strong> Gene 213: 189-193, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630625</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00194-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630625">Takeuchi et al. (1998)</a> introduced B120 cDNA with an expression vector into various cell lines, including COS-1, C3H/10T1/2, and NIH 3T3 cells. These transfected cells exhibited small cytoplasmic spherical bodies. The cytoplasmic bodies appeared to be fat droplets on electron microscopy and histochemical staining. These findings suggested that B120 gene expression is associated with lipid metabolism and that overexpression of B120 may result in lipid deposition in various cells, including those of fibroblastic cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dallas, P. B., Pacchione, S., Wilsker, D., Bowrin, V., Kobayashi, R., Moran, E. <strong>The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity.</strong> Molec. Cell. Biol. 20: 3137-3146, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10757798[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.20.9.3137-3146.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10757798">Dallas et al. (2000)</a> showed that in vitro-translated human p270 bound immobilized native DNA. Deletion and mutation analysis revealed that DNA binding was confined to the ARID region and required conserved trp and tyr residues. Cloning and sequencing of DNA oligomers bound by the ARID region of p270 revealed no common motifs or sequence preferences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10757798" 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 sequencing peptides that immunopurified with BAF and PBAF (see PBRM1; <a href="/entry/606083">606083</a>) chromatin remodeling complexes, <a href="#14" class="mim-tip-reference" title="Nie, Z., Xue, Y., Yang, D., Zhou, S., Deroo, B. J., Archer, T. K., Wang, W. <strong>A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.</strong> Molec. Cell. Biol. 20: 8879-8888, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11073988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11073988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11073988[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.20.23.8879-8888.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11073988">Nie et al. (2000)</a> identified BAF250 as a component of the BAF complex only. The BAF complex possessed ATP-dependent mononucleosome disruption activity against a 176-bp fragment of 5S ribosomal DNA containing a nucleosome-positioning sequence. The intact BAF complex or a chimeric protein that included only the ARID domain of BAF250 bound a fragment containing the pyrimidine-rich element of the delta-globin (HBD;<a href="/entry/142000">142000</a>) gene. BAF250 also enhanced glucocorticoid receptor (GR, or GCCR; <a href="/entry/138040">138040</a>)-mediated transcriptional activation following transfection of BAF250 into BAF250-negative human T47D breast cancer cells. The amount of BAF250 that associated with GR increased in the presence of glucocorticoid. Deletion of the conserved C-terminal region of BAF250 decreased its GR-dependent activation about 70%, and deletion of the ARID domain of BAF250 had a lesser effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11073988" 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 gel filtration, mass spectrometry, and Western blot analysis of human cell lines, <a href="#15" class="mim-tip-reference" title="Nie, Z., Yan, Z., Chen, E. H., Sechi, S., Ling, C., Zhou, S., Xue, Y., Yang, D., Murray, D., Kanakubo, E., Cleary, M. L., Wang, W. <strong>Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.</strong> Molec. Cell. Biol. 23: 2942-2952, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12665591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12665591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12665591[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.23.8.2942-2952.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12665591">Nie et al. (2003)</a> identified unique low-abundance SWI/SWF complexes that contained ENL (MLLT1; <a href="/entry/159556">159556</a>), several common SWI/SNF subunits, and either BAF250A or BAF250B (ARID1B; <a href="/entry/614556">614556</a>). Both BAF250A- and BAF250B-containing complexes displayed ATP-dependent mononucleosome disruption activity in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12665591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To explore the genetic origin of ovarian clear-cell carcinoma (<a href="/entry/167000">167000</a>), <a href="#10" class="mim-tip-reference" title="Jones, S., Wang, T.-L., Shih, I.-M., Mao, T.-L., Nakayama, K., Roden, R., Glas, R., Slamon, D., Diaz, L. A., Jr., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., Papadopoulos, N. <strong>Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.</strong> Science 330: 228-231, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20826764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20826764</a>] [<a href="https://doi.org/10.1126/science.1196333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20826764">Jones et al. (2010)</a> determined the exomic sequences of 8 tumors after immunoaffinity purification of cancer cells. Through comparative analyses of normal cells from the same patients, <a href="#10" class="mim-tip-reference" title="Jones, S., Wang, T.-L., Shih, I.-M., Mao, T.-L., Nakayama, K., Roden, R., Glas, R., Slamon, D., Diaz, L. A., Jr., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., Papadopoulos, N. <strong>Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.</strong> Science 330: 228-231, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20826764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20826764</a>] [<a href="https://doi.org/10.1126/science.1196333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20826764">Jones et al. (2010)</a> identified 4 genes that were mutated in at least 2 tumors. Two of these genes, ARID1A and PPP2R1A (<a href="/entry/605983">605983</a>), which encodes a regulatory subunit of serine/threonine phosphatase-2, were not known to be involved in ovarian clear-cell carcinoma. The other 2 genes, previously implicated in ovarian clear-cell carcinoma, were PIK3CA (<a href="/entry/171834">171834</a>) and KRAS (<a href="/entry/190070">190070</a>). The nature and pattern of the mutations suggest that PPP2R1A functions as an oncogene and ARID1A as a tumor-suppressor gene. In a total of 42 ovarian clear-cell carcinomas, 7% had mutations in PPP2R1A and 57% had mutations in ARID1A. <a href="#10" class="mim-tip-reference" title="Jones, S., Wang, T.-L., Shih, I.-M., Mao, T.-L., Nakayama, K., Roden, R., Glas, R., Slamon, D., Diaz, L. A., Jr., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., Papadopoulos, N. <strong>Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.</strong> Science 330: 228-231, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20826764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20826764</a>] [<a href="https://doi.org/10.1126/science.1196333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20826764">Jones et al. (2010)</a> concluded that their results suggested that aberrant chromatin remodeling contributes to the pathogenesis of ovarian clear-cell carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20826764" 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="Dykhuizen, E. C., Hargreaves, D. C., Miller, E. L., Cui, K., Korshunov, A., Kool, M., Pfister, S., Cho, Y.-J., Zhao, K., Crabtree, G. R. <strong>BAF complexes facilitate decatenation of DNA by topoisomerase II-alpha.</strong> Nature 497: 624-627, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23698369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23698369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23698369[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/nature12146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23698369">Dykhuizen et al. (2013)</a> showed that BAF complexes decatenate newly replicated sister chromatids, a requirement for proper chromosome segregation during mitosis. <a href="#5" class="mim-tip-reference" title="Dykhuizen, E. C., Hargreaves, D. C., Miller, E. L., Cui, K., Korshunov, A., Kool, M., Pfister, S., Cho, Y.-J., Zhao, K., Crabtree, G. R. <strong>BAF complexes facilitate decatenation of DNA by topoisomerase II-alpha.</strong> Nature 497: 624-627, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23698369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23698369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23698369[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/nature12146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23698369">Dykhuizen et al. (2013)</a> found that deletion of Brg1 (<a href="/entry/603254">603254</a>) in mouse cells, as well as the expression of BRG1 point mutations identified in human tumors, leads to anaphase bridge formation (in which sister chromatids are linked by catenated strands of DNA) and a G2/M-phase block characteristic of the decatenation checkpoint. Endogenous BAF complexes interact directly with endogenous topoisomerase II-alpha (TOP2A; <a href="/entry/126430">126430</a>) through BAF250a and are required for the binding of TOP2A to approximately 12,000 sites across the genome. <a href="#5" class="mim-tip-reference" title="Dykhuizen, E. C., Hargreaves, D. C., Miller, E. L., Cui, K., Korshunov, A., Kool, M., Pfister, S., Cho, Y.-J., Zhao, K., Crabtree, G. R. <strong>BAF complexes facilitate decatenation of DNA by topoisomerase II-alpha.</strong> Nature 497: 624-627, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23698369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23698369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23698369[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/nature12146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23698369">Dykhuizen et al. (2013)</a> concluded that TOP2A chromatin binding is dependent on the ATPase activity of BRG1, which is compromised in oncogenic BRG1 mutants. They further concluded that the ability of TOP2A to prevent DNA entanglement at mitosis requires BAF complexes and suggested that this activity contributes to the role of BAF subunits as tumor suppressors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23698369" 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 comparing Arid1a -/- mice and ARID1A -/- HC116 human colon cancer cell lines with normal controls, <a href="#13" class="mim-tip-reference" title="Mathur, R., Alver, B. H., San Roman, A. K., Wilson, B. G., Wang, X., Agoston, A. T., Park, P. J., Shivdasani, R. A., Roberts, C. W. M. <strong>ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice.</strong> Nature Genet. 49: 296-302, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941798</a>] [<a href="https://doi.org/10.1038/ng.3744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27941798">Mathur et al. (2017)</a> found that ARID1A was required to target SWI/SNF complexes to enhancers, but not promoters, in chromatin. Loss of ARID1A did not effect SWI/SNF complexes containing ARID1B. ARID1A -/- cells showed loss of acetylated histone H3 (see <a href="/entry/602810">602810</a>) at enhancers distal to transcriptional start sites, and this correlated with loss of transcription at the nearest genes. <a href="#13" class="mim-tip-reference" title="Mathur, R., Alver, B. H., San Roman, A. K., Wilson, B. G., Wang, X., Agoston, A. T., Park, P. J., Shivdasani, R. A., Roberts, C. W. M. <strong>ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice.</strong> Nature Genet. 49: 296-302, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941798</a>] [<a href="https://doi.org/10.1038/ng.3744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27941798">Mathur et al. (2017)</a> concluded that ARID1A is required for SWI/SNF-dependent and enhancer-mediated gene regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27941798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of gain- and loss-of-function approaches in several cellular contexts, <a href="#3" class="mim-tip-reference" title="Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S. <strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong> Nature 563: 265-269, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30401838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30401838</a>] [<a href="https://doi.org/10.1038/s41586-018-0658-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30401838">Chang et al. (2018)</a> showed that YAP (<a href="/entry/606608">606608</a>) and TAZ (<a href="/entry/607392">607392</a>) are necessary to induce the effects of the inactivation of the SWI/SNF complex, such as cell proliferation, acquisition of stem cell-like traits, and liver tumorigenesis. <a href="#3" class="mim-tip-reference" title="Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S. <strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong> Nature 563: 265-269, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30401838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30401838</a>] [<a href="https://doi.org/10.1038/s41586-018-0658-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30401838">Chang et al. (2018)</a> found that YAP/TAZ form a complex with SWI/SNF; this interaction is mediated by ARID1A and is alternative to the association of YAP/TAZ with the DNA-binding platform TEAD. Cellular mechanotransduction regulates the association between ARID1A-SWI/SNF and YAP/TAZ. The inhibitory interaction of ARID1A-SWI/SNF and YAP/TAZ is predominant in cells that experience low mechanical signaling, in which loss of ARID1A rescues the association between YAP/TAZ and TEAD. At high mechanical stress, nuclear F-actin binds to ARID1A-SWI/SNF, thereby preventing the formation of the ARID1A-SWI/SNF-YAP/TAZ complex, in favor of an association between TEAD and YAP/TAZ. <a href="#3" class="mim-tip-reference" title="Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S. <strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong> Nature 563: 265-269, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30401838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30401838</a>] [<a href="https://doi.org/10.1038/s41586-018-0658-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30401838">Chang et al. (2018)</a> proposed that a dual requirement must be met to fully enable the YAP/TAZ responses: promotion of nuclear accumulation of YAP/TAZ, for example, by loss of Hippo signaling, and inhibition of ARID1A-SWI/SNF, which can occur either through genetic inactivation or because of increased cell mechanics. <a href="#3" class="mim-tip-reference" title="Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S. <strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong> Nature 563: 265-269, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30401838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30401838</a>] [<a href="https://doi.org/10.1038/s41586-018-0658-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30401838">Chang et al. (2018)</a> concluded that their study offered a molecular framework in which mechanical signals that emerge at the tissue level together with genetic lesions activate YAP/TAZ to induce cell plasticity and tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30401838" 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="#7" class="mim-tip-reference" title="He, S., Wu, Z., Tian, Y., Yu, Z., Yu, J., Wang, X., Li, J., Liu, B., Xu, Y. <strong>Structure of nucleosome-bound human BAF complex.</strong> Science 367: 875-881, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32001526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32001526</a>] [<a href="https://doi.org/10.1126/science.aaz9761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32001526">He et al. (2020)</a> reported the 3.7-angstrom resolution cryoelectron microscopy structure of the human BRG1/BRM-associated factor (BAF) complex, consisting of the catalytic subunit SMARCA4 (BRG1) and 9 auxiliary subunits, including ARID1A, bound to the nucleosome. The structure revealed that the nucleosome is sandwiched by the base and the ATPase modules, which are bridged by the actin-related protein (ARP) module, composed of an ACTL6A (<a href="/entry/604958">604958</a>)-ACTB (<a href="/entry/102630">102630</a>) heterodimer and the long alpha helix of the helicase-SANT-associated region (HSA) of SMARCA4. The ATPase motor is positioned proximal to nucleosomal DNA and, upon ATP hydrolysis, engages with and pumps DNA along the nucleosome. The C-terminal alpha helix of SMARCB1 (<a href="/entry/601607">601607</a>), enriched in positively charged residues frequently mutated in cancers, mediates interactions with an acidic patch of the nucleosome. ARID1A and the SWI/SNF complex subunit SMARCC (<a href="/entry/601732">601732</a>) serve as a structural core and scaffold in the base module organization, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32001526" 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="#19" class="mim-tip-reference" title="Takeuchi, T., Furihata, M., Heng, H. H. Q., Sonobe, H., Ohtsuki, Y. <strong>Chromosomal mapping and expression of the human B120 gene.</strong> Gene 213: 189-193, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630625</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00194-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630625">Takeuchi et al. (1998)</a> mapped the ARID1A gene to chromosome 1p36.1-p35 by fluorescence in situ hybridization. Several human disorders, including Schnyder crystalline corneal dystrophy (<a href="/entry/121800">121800</a>), map to the 1p36.1-p35 region by genetic linkage. Since the cornea is composed of fibroblastic cells, <a href="#19" class="mim-tip-reference" title="Takeuchi, T., Furihata, M., Heng, H. H. Q., Sonobe, H., Ohtsuki, Y. <strong>Chromosomal mapping and expression of the human B120 gene.</strong> Gene 213: 189-193, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630625</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00194-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630625">Takeuchi et al. (1998)</a> suggested that overfunction of ARID1A may be related to the pathogenesis of Schnyder crystalline corneal dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630625" 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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In 3 patients with Coffin-Siris syndrome-2 (CSS2; <a href="/entry/614607">614607</a>), <a href="#20" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> identified heterozygous mutations in the ARID1A gene (<a href="#0001">603024.0001</a>-<a href="#0003">603024.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, <a href="#21" class="mim-tip-reference" title="Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others. <strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong> Hum. Molec. Genet. 22: 5121-5135, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>] [<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23906836">Wieczorek et al. (2013)</a> identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), which shows similar features. Only 1 patient had a heterozygous truncating mutation in the ARID1A gene, which was likely somatic mosaic (R1989X; <a href="#0004">603024.0004</a>). Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23906836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 unrelated patients with CSS2, <a href="#17" class="mim-tip-reference" title="Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others. <strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong> Hum. Mutat. 34: 1519-1528, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23929686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23929686</a>] [<a href="https://doi.org/10.1002/humu.22394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23929686">Santen et al. (2013)</a> identified 4 different de novo heterozygous pathogenic mutations in the ARID1A gene (see, e.g., <a href="#0005">603024.0005</a>-<a href="#0006">603024.0006</a>). The mutations were all shown to be somatic mosaic, although to different extents. <a href="#17" class="mim-tip-reference" title="Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others. <strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong> Hum. Mutat. 34: 1519-1528, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23929686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23929686</a>] [<a href="https://doi.org/10.1002/humu.22394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23929686">Santen et al. (2013)</a> noted that homozygous loss of the Arid1a gene is embryonic lethal in mice, and suggested that truncating germline variants in the ARID1A gene may be embryonic lethal in humans as well. The patients were ascertained from a large cohort of 63 patients with a clinical diagnosis of CSS who were screened for mutations in the 6 genes of the BAF complex. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23929686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic ARID1A Mutations in Cancer</em></strong></p><p>
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<a href="#22" class="mim-tip-reference" title="Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others. <strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong> New Eng. J. Med. 363: 1532-1543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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/10.1056/NEJMoa1008433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20942669">Wiegand et al. (2010)</a> sequenced the whole transcriptomes of 18 ovarian clear-cell carcinomas and 1 ovarian clear-cell carcinoma cell line and found somatic mutations in ARID1A in 6 of the samples. ARID1A encodes BAF250a, a key component of the SWI-SNF chromatin remodeling complex. <a href="#22" class="mim-tip-reference" title="Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others. <strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong> New Eng. J. Med. 363: 1532-1543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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/10.1056/NEJMoa1008433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20942669">Wiegand et al. (2010)</a> then sequenced ARID1A in an additional 210 ovarian carcinomas and a second ovarian clear-cell carcinoma cell line and measured BAF250a expression by means of immunohistochemical analysis in an additional 455 ovarian carcinomas. ARID1A mutations were seen in 55 of 119 ovarian clear-cell carcinomas (46%), 10 of 33 endometrioid carcinomas (30%), and none of the 76 high-grade serous ovarian carcinomas. Seventeen of the carcinomas had 2 somatic mutations each. Loss of the BAF250a protein correlated strongly with the ovarian clear-cell carcinoma and endometrioid carcinoma subtypes and the presence of ARID1A mutations. In 2 patients, ARIDIA mutations and loss of BAF250a expression were evident in the tumor and contiguous atypical endometriosis but not in distal endometriotic lesions. <a href="#22" class="mim-tip-reference" title="Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others. <strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong> New Eng. J. Med. 363: 1532-1543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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/10.1056/NEJMoa1008433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20942669">Wiegand et al. (2010)</a> concluded that these data implicated ARID1A in as a tumor suppressor gene frequently disrupted in ovarian clear-cell and endometrioid carcinoma. Since ARID1A mutation and loss of BAF250a can be seen in preneoplastic lesions, <a href="#22" class="mim-tip-reference" title="Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others. <strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong> New Eng. J. Med. 363: 1532-1543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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/10.1056/NEJMoa1008433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20942669">Wiegand et al. (2010)</a> speculated that mutation of ARID1A is an early event in the transformation of endometriosis into cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20942669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The finding of frequent ARID1A mutations in ovarian clear-cell and endometrioid carcinomas by <a href="#22" class="mim-tip-reference" title="Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others. <strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong> New Eng. J. Med. 363: 1532-1543, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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/10.1056/NEJMoa1008433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20942669">Wiegand et al. (2010)</a> suggested to <a href="#16" class="mim-tip-reference" title="Nissenblatt, M. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 482-483, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288105</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288105">Nissenblatt (2011)</a> that such tumors may be of mullerian rather than coelomic derivation. <a href="#16" class="mim-tip-reference" title="Nissenblatt, M. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 482-483, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288105</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288105">Nissenblatt (2011)</a> noted that the 3 most common types of ovarian carcinoma, i.e., serous, endometrioid, and mucinous, are histologically identical to tumors of the fallopian tube, endometrium, and endocervix, tumors known to arise from the embryonic mullerian duct. In a reply to the comments of <a href="#16" class="mim-tip-reference" title="Nissenblatt, M. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 482-483, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288105</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288105">Nissenblatt (2011)</a>, <a href="#8" class="mim-tip-reference" title="Huntsman, D., Wiegand, K. C., Gilks, B. <strong>Reply to Nissenblatt and Birnbaum et al. (Letter)</strong> New Eng. J. Med. 364: 484-485, 2011."None>Huntsman et al. (2011)</a> suggested that endometrioid carcinomas of the ovary and clear-cell carcinomas should be included with similar uterine cancers in clinical trials. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20942669+21288105" 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="#1" class="mim-tip-reference" title="Birnbaum, D. J., Birnbaum, D., Bertucci, F. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 483-484, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288104</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288104">Birnbaum et al. (2011)</a> profiled pancreatic carcinoma samples from 39 patients and 8 cell lines using high-resolution array comparative genomic hybridization and found a heterozygous deletion of the 1p35 chromosomal region in 56.4% of tumors and 5 cell lines. This region, which is commonly deleted in human cancers, includes ARID1A, which is involved in chromatin remodeling and is suspected to be a tumor suppressor gene. Sequencing of ARID1A exons detected 2 acquired heterozygous mutations (1 nonsense and 1 missense) in tumors. These mutations were different from those reported in ovarian cancer. <a href="#1" class="mim-tip-reference" title="Birnbaum, D. J., Birnbaum, D., Bertucci, F. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 483-484, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288104</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288104">Birnbaum et al. (2011)</a> concluded that their results suggested a potential role of ARID1A and aberrant chromatin remodeling in pancreatic carcinoma and showed that the spectrum of ARID1A alterations, including deletions, may be large. <a href="#8" class="mim-tip-reference" title="Huntsman, D., Wiegand, K. C., Gilks, B. <strong>Reply to Nissenblatt and Birnbaum et al. (Letter)</strong> New Eng. J. Med. 364: 484-485, 2011."None>Huntsman et al. (2011)</a> stated that the findings of <a href="#1" class="mim-tip-reference" title="Birnbaum, D. J., Birnbaum, D., Bertucci, F. <strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong> New Eng. J. Med. 364: 483-484, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288104</a>] [<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21288104">Birnbaum et al. (2011)</a> added to a body of evidence implicating abnormalities in chromatin-remodeling complexes, and in particular the BAF250a-containing SWI/SNF nucleosome remodeling complex, as key events in many cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21288104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[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.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors (see <a href="/entry/608089">608089</a>), and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. <a href="#12" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[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.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> identified a high frequency of somatic mutation (6%) in the ARID1A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Jiao, Y., Pawlik, T. M., Anders, R. A., Selaru, F. M., Streppel, M. M., Lucas, D. J., Niknafs, N., Guthrie, V. B., Maitra, A., Argani, P., Offerhaus, G. J. A., Roa, J. C., and 24 others. <strong>Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.</strong> Nature Genet. 45: 1470-1473, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24185509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24185509</a>] [<a href="https://doi.org/10.1038/ng.2813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24185509">Jiao et al. (2013)</a> detected somatic ARID1A mutations in 6 of 32 (19%) intrahepatic cholangiocarcinomas (<a href="/entry/615619">615619</a>) in a discovery screen and in 3 of 32 (9%) independent intrahepatic cholangiocarcinomas in the prevalence screen. <a href="#2" class="mim-tip-reference" title="Chan-on, W., Nairismagi, M.-L., Ong, C. K., Lim, W. K., Dima, S., Pairojkul, C., Lim, K. H., McPherson, J. R., Cutcutache, I., Heng, H. L., Ooi, L., Chung, A., and 27 others. <strong>Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.</strong> Nature Genet. 45: 1474-1478, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24185513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24185513</a>] [<a href="https://doi.org/10.1038/ng.2806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24185513">Chan-on et al. (2013)</a> identified somatic ARID1A mutations in 9 of 86 (10.5%) non-O.viverrini cholangiocarcinomas and in 19 of 108 (17.6%) O. viverrini-related cholangiocarcinomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24185509+24185513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gao, X., Tate, P., Hu, P., Tjian, R., Skarnes, W. C., Wang, Z. <strong>ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a.</strong> Proc. Nat. Acad. Sci. 105: 6656-6661, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18448678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18448678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18448678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0801802105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18448678">Gao et al. (2008)</a> found that complete absence of Baf250a in mice was embryonic lethal, resulting in developmental arrest around day E6.5 without formation of a primitive streak or mesoderm, indicating its critical role in early germ-layer formation at gastrulation. Cellular studies showed that Baf250a deficiency in embryonic stem cells compromised embryonic cell pluripotency, inhibited self-renewal, and promoted differentiation into primitive endoderm-like cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18448678" 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="#11" class="mim-tip-reference" title="Krosl, J., Mamo, A., Chagraoui, J., Wilhelm, B. T., Girard, S., Louis, I., Lessard, J., Perreault, C., Sauvageau, G. <strong>A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.</strong> Blood 116: 1678-1684, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20522713[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/10.1182/blood-2010-03-273862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20522713">Krosl et al. (2010)</a> generated a mutant mouse strain harboring a Baf250a allele lacking exons 2 and 3. Transcripts from this allele were expressed at normal levels and encoded a Baf250 protein lacking 150 amino acids within the N-terminal region. Heterozygous mutant mice were healthy for over 12 months, but no homozygous mutant offspring were obtained. <a href="#11" class="mim-tip-reference" title="Krosl, J., Mamo, A., Chagraoui, J., Wilhelm, B. T., Girard, S., Louis, I., Lessard, J., Perreault, C., Sauvageau, G. <strong>A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.</strong> Blood 116: 1678-1684, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20522713[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/10.1182/blood-2010-03-273862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20522713">Krosl et al. (2010)</a> examined hemopoiesis in homozygous mutant fetal liver and found that Baf250a was not required for hemopoietic stem cell specification, onset of definitive hemopoiesis, or differentiation of blood cells. However, stromal cell layers established from homozygous mutant fetal liver cells were more efficient than wildtype fetal liver cells in in vitro maintenance and expansion of primitive hemopoietic cells. This advantage was associated with enhanced expression of transcripts encoding soluble factors associated with hematopoietic stem cell growth and reduced expression of transcripts associated with cell senescence or oxidative stress-induced apoptosis. <a href="#11" class="mim-tip-reference" title="Krosl, J., Mamo, A., Chagraoui, J., Wilhelm, B. T., Girard, S., Louis, I., Lessard, J., Perreault, C., Sauvageau, G. <strong>A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.</strong> Blood 116: 1678-1684, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20522713[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/10.1182/blood-2010-03-273862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20522713">Krosl et al. (2010)</a> hypothesized that BAF250A controls the size of the fetal liver hematopoietic stem cell pool through regulation of the fetal liver microenvironment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20522713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>6 Selected Examples</a>):</strong>
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<a href="/allelicVariants/603024" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603024[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797045262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045262;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797045262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797045262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023227 OR RCV000480869 OR RCV003314556" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023227, RCV000480869, RCV003314556" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023227...</a>
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<p>In Patient 3 with Coffin-Siris syndrome (CSS2; <a href="/entry/614607">614607</a>), <a href="#20" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> detected a heterozygous 26-bp deletion (31_56del) in the ARID1A gene, resulting in frameshift and premature termination 91 amino acids downstream (Ser11AlafsTer91). The patient presented with hepatoblastoma as well as multiple congenital anomalies. This mutation was not identified in 330 control chromosomes or in the dbSNP (build 132), 1000 Genomes Project, or Exome Sequencing Project databases. The parents were unavailable for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906845;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In Patient 6 with Coffin-Siris syndrome (CSS2; <a href="/entry/614607">614607</a>), <a href="#20" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> detected a heterozygous C-to-T transition at nucleotide 2758 of the ARID1A gene that resulted in a gln-to-ter substitution at codon 920 (Q920X). This mutation was not identified in 376 control chromosomes or in the dbSNP (build 132), 1000 Genomes Project, or Exome Sequencing Project databases. The parents were unavailable for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 COFFIN-SIRIS SYNDROME 2</strong>
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ARID1A, ARG1335TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906846 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906846;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023229 OR RCV000856779" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023229, RCV000856779" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023229...</a>
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<p>In Patient 8 with Coffin-Siris syndrome (CSS2; <a href="/entry/614607">614607</a>), <a href="#20" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> detected a heterozygous C-to-T transition at nucleotide 4003 of the ARID1A gene, resulting in an arg-to-ter substitution at codon 1335 (R1335X). The mutation occurred as a de novo event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255270 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255270;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000211084 OR RCV004668851 OR RCV004719761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000211084, RCV004668851, RCV004719761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000211084...</a>
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<p>In a patient (K2435) with Coffin-Siris syndrome-2 (CSS2; <a href="/entry/614607">614607</a>), <a href="#21" class="mim-tip-reference" title="Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others. <strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong> Hum. Molec. Genet. 22: 5121-5135, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>] [<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23906836">Wieczorek et al. (2013)</a> identified a de novo heterozygous c.5965C-T transition in exon 20 of the ARID1A gene, resulting in an arg1989-to-ter (R1989X) substitution. The mutant allele was detected at a lower proportion than the wildtype allele, indicating the presence of somatic mosaicism in the individual. The patient was 1 of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome who underwent sequencing of 23 SWI/SNF complex genes. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23906836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs875989848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989848;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs875989848?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs875989848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs875989848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000211061 OR RCV004668852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000211061, RCV004668852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000211061...</a>
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<p>In a patient (patient 48) with Coffin-Siris syndrome-2 (CSS2; <a href="/entry/614607">614607</a>), <a href="#17" class="mim-tip-reference" title="Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others. <strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong> Hum. Mutat. 34: 1519-1528, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23929686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23929686</a>] [<a href="https://doi.org/10.1002/humu.22394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23929686">Santen et al. (2013)</a> identified a de novo heterozygous 1-bp deletion (c.1113del, NM_006015.4) in exon 1 of the ARID1A gene, resulting in a frameshift and premature termination (Gln372SerfsTer19). The mutant peak was lower than the wildtype peak, suggesting somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23929686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs875989849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989849;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs875989849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs875989849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000211078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000211078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000211078</a>
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<p>In a patient (patient 26) with Coffin-Siris syndrome-2 (CSS2; <a href="/entry/614607">614607</a>), <a href="#17" class="mim-tip-reference" title="Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others. <strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong> Hum. Mutat. 34: 1519-1528, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23929686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23929686</a>] [<a href="https://doi.org/10.1002/humu.22394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23929686">Santen et al. (2013)</a> identified a de novo heterozygous c.3679G-T transversion (c.3679G-T, NM_006015.4) in exon 14 of the ARID1A gene, resulting in a glu1227-to-ter (E1227X) substitution. The mutant peak was lower than the wildtype peak, suggesting somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23929686" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="Birnbaum2011" class="mim-anchor"></a>
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Birnbaum, D. J., Birnbaum, D., Bertucci, F.
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<strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong>
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New Eng. J. Med. 364: 483-484, 2011.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21288104" 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/10.1056/NEJMc1012780" target="_blank">Full Text</a>]
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Chan-on, W., Nairismagi, M.-L., Ong, C. K., Lim, W. K., Dima, S., Pairojkul, C., Lim, K. H., McPherson, J. R., Cutcutache, I., Heng, H. L., Ooi, L., Chung, A., and 27 others.
|
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<strong>Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.</strong>
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Nature Genet. 45: 1474-1478, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24185513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24185513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24185513" 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.2806" target="_blank">Full Text</a>]
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<a id="Chang2018" class="mim-anchor"></a>
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Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S.
|
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<strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong>
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Nature 563: 265-269, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30401838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30401838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30401838" 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/s41586-018-0658-1" target="_blank">Full Text</a>]
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<a id="Dallas2000" class="mim-anchor"></a>
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Dallas, P. B., Pacchione, S., Wilsker, D., Bowrin, V., Kobayashi, R., Moran, E.
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<strong>The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity.</strong>
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Molec. Cell. Biol. 20: 3137-3146, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10757798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10757798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10757798[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=10757798" 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.20.9.3137-3146.2000" target="_blank">Full Text</a>]
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<a id="Dykhuizen2013" class="mim-anchor"></a>
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Dykhuizen, E. C., Hargreaves, D. C., Miller, E. L., Cui, K., Korshunov, A., Kool, M., Pfister, S., Cho, Y.-J., Zhao, K., Crabtree, G. R.
|
|
<strong>BAF complexes facilitate decatenation of DNA by topoisomerase II-alpha.</strong>
|
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Nature 497: 624-627, 2013.
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23698369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23698369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23698369[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=23698369" 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/nature12146" target="_blank">Full Text</a>]
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<a id="Gao2008" class="mim-anchor"></a>
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Gao, X., Tate, P., Hu, P., Tjian, R., Skarnes, W. C., Wang, Z.
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<strong>ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a.</strong>
|
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Proc. Nat. Acad. Sci. 105: 6656-6661, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18448678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18448678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18448678[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=18448678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0801802105" target="_blank">Full Text</a>]
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He, S., Wu, Z., Tian, Y., Yu, Z., Yu, J., Wang, X., Li, J., Liu, B., Xu, Y.
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<strong>Structure of nucleosome-bound human BAF complex.</strong>
|
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Science 367: 875-881, 2020.
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32001526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32001526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32001526" 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.aaz9761" target="_blank">Full Text</a>]
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<a id="Huntsman2011" class="mim-anchor"></a>
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Huntsman, D., Wiegand, K. C., Gilks, B.
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<strong>Reply to Nissenblatt and Birnbaum et al. (Letter)</strong>
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New Eng. J. Med. 364: 484-485, 2011.
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|
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Jiao, Y., Pawlik, T. M., Anders, R. A., Selaru, F. M., Streppel, M. M., Lucas, D. J., Niknafs, N., Guthrie, V. B., Maitra, A., Argani, P., Offerhaus, G. J. A., Roa, J. C., and 24 others.
|
|
<strong>Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.</strong>
|
|
Nature Genet. 45: 1470-1473, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24185509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24185509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24185509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2813" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Jones2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jones, S., Wang, T.-L., Shih, I.-M., Mao, T.-L., Nakayama, K., Roden, R., Glas, R., Slamon, D., Diaz, L. A., Jr., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., Papadopoulos, N.
|
|
<strong>Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.</strong>
|
|
Science 330: 228-231, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20826764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20826764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20826764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1196333" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Krosl2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krosl, J., Mamo, A., Chagraoui, J., Wilhelm, B. T., Girard, S., Louis, I., Lessard, J., Perreault, C., Sauvageau, G.
|
|
<strong>A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.</strong>
|
|
Blood 116: 1678-1684, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20522713[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=20522713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood-2010-03-273862" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Le Gallo2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
|
|
<strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong>
|
|
Nature Genet. 44: 1310-1315, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[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=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2455" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Mathur2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mathur, R., Alver, B. H., San Roman, A. K., Wilson, B. G., Wang, X., Agoston, A. T., Park, P. J., Shivdasani, R. A., Roberts, C. W. M.
|
|
<strong>ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice.</strong>
|
|
Nature Genet. 49: 296-302, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27941798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.3744" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Nie2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nie, Z., Xue, Y., Yang, D., Zhou, S., Deroo, B. J., Archer, T. K., Wang, W.
|
|
<strong>A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.</strong>
|
|
Molec. Cell. Biol. 20: 8879-8888, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11073988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11073988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11073988[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=11073988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1128/MCB.20.23.8879-8888.2000" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Nie2003" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Nie, Z., Yan, Z., Chen, E. H., Sechi, S., Ling, C., Zhou, S., Xue, Y., Yang, D., Murray, D., Kanakubo, E., Cleary, M. L., Wang, W.
|
|
<strong>Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.</strong>
|
|
Molec. Cell. Biol. 23: 2942-2952, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12665591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12665591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12665591[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=12665591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1128/MCB.23.8.2942-2952.2003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Nissenblatt2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nissenblatt, M.
|
|
<strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong>
|
|
New Eng. J. Med. 364: 482-483, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21288105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21288105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21288105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMc1012780" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Santen2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others.
|
|
<strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong>
|
|
Hum. Mutat. 34: 1519-1528, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23929686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23929686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23929686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.22394" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Takeuchi1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takeuchi, T., Chen, B. K., Qiu, Y., Sonobe, H., Ohtsuki, Y.
|
|
<strong>Molecular cloning and expression of a novel human cDNA containing CAG repeats.</strong>
|
|
Gene 204: 71-77, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0378-1119(97)00525-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Takeuchi1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takeuchi, T., Furihata, M., Heng, H. H. Q., Sonobe, H., Ohtsuki, Y.
|
|
<strong>Chromosomal mapping and expression of the human B120 gene.</strong>
|
|
Gene 213: 189-193, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0378-1119(98)00194-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
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|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Tsurusaki2012" class="mim-anchor"></a>
|
|
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|
|
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|
|
Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others.
|
|
<strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong>
|
|
Nature Genet. 44: 376-378, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2219" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Wieczorek2013" class="mim-anchor"></a>
|
|
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|
|
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|
|
Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others.
|
|
<strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong>
|
|
Hum. Molec. Genet. 22: 5121-5135, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23906836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank">Full Text</a>]
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
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|
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|
|
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|
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Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others.
|
|
<strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong>
|
|
New Eng. J. Med. 363: 1532-1543, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20942669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20942669</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20942669[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=20942669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1056/NEJMoa1008433" target="_blank">Full Text</a>]
|
|
|
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|
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/24/2020
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/26/2018<br>Patricia A. Hartz - updated : 03/09/2017<br>Cassandra L. Kniffin - updated : 5/4/2016<br>Ada Hamosh - updated : 1/28/2014<br>Ada Hamosh - updated : 7/1/2013<br>Ada Hamosh - updated : 2/7/2013<br>Ada Hamosh - updated : 4/30/2012<br>Patricia A. Hartz - updated : 3/23/2012<br>Patricia A. Hartz - updated : 7/14/2011<br>Ada Hamosh - updated : 2/15/2011<br>Ada Hamosh - updated : 11/4/2010<br>Ada Hamosh - updated : 10/26/2010
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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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Victor A. McKusick : 9/9/1998
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 03/24/2020
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alopez : 03/24/2020<br>alopez : 11/26/2018<br>carol : 12/08/2017<br>alopez : 03/09/2017<br>alopez : 05/06/2016<br>ckniffin : 5/4/2016<br>carol : 4/29/2016<br>alopez : 1/28/2014<br>alopez : 7/1/2013<br>alopez : 2/7/2013<br>alopez : 5/2/2012<br>alopez : 5/1/2012<br>terry : 4/30/2012<br>mgross : 3/27/2012<br>mgross : 3/27/2012<br>terry : 3/23/2012<br>mgross : 7/18/2011<br>mgross : 7/18/2011<br>terry : 7/14/2011<br>alopez : 2/17/2011<br>terry : 2/15/2011<br>carol : 2/2/2011<br>alopez : 11/11/2010<br>terry : 11/4/2010<br>alopez : 10/27/2010<br>alopez : 10/26/2010<br>mgross : 11/3/2005<br>alopez : 6/21/2000<br>alopez : 7/19/1999<br>dkim : 9/10/1998<br>carol : 9/9/1998
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<span class="mim-font">
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<strong>*</strong> 603024
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<h3>
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AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A
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<em>Alternative titles; symbols</em>
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ARID-CONTAINING PROTEIN 1A<br />
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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY F, MEMBER 1; SMARCF1<br />
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BRG1-ASSOCIATED FACTOR, 250-KD, A; BAF250A<br />
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CHROMOSOME 1 OPEN READING FRAME 4; C1ORF4<br />
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B120 GENE; B120<br />
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p270
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<strong><em>HGNC Approved Gene Symbol: ARID1A</em></strong>
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Cytogenetic location: 1p36.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:26,696,015-26,782,104 </span>
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</em>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1p36.11
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Coffin-Siris syndrome 2
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614607
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>ARID1A is a unique component of the BRG1 (SMARCA4; 603254)-associated factor (BAF) chromatin remodeling complex that facilitates gene activation by assisting transcription machinery to gain access to gene targets (Nie et al., 2000). </p>
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<strong>Cloning and Expression</strong>
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<p>Takeuchi et al. (1997) reported a novel human cDNA encoding ARID1A, which they designated B120. B120 contains many repeat units, loosely identified as YXQQP, present in several human RNA-binding proteins. The B120 gene product is a 120-kD cytoplasmic protein expressed in various tissues including skeletal muscle, brain, and spleen. B120 has a CAG repeat length polymorphism, usually 7 repeats, encoding polyglutamine amino acids. </p><p>Using antibody against human p270 to screen a HeLa cell expression cDNA library, followed by screening a second HeLa cell library and 5-prime RACE of a WI-38 human fibroblast library, Dallas et al. (2000) obtained a partial cDNA encoding about 95% of the ARID1A protein, which they called p270. The deduced protein, which is N-terminally truncated, has a glutamine (Q)-rich N-terminal region, followed by an ARID domain, a second Q-rich region, and multiple copies of an LxxLL motif near the C terminus. Northern blot analysis revealed variable expression of an approximately 8.0-kb transcript in all tissues examined. </p><p>By sequencing peptides immunoaffinity purified with BRG1 from human cell line nuclear extracts, followed by EST database analysis and screening a Jurkat T-cell cDNA library, Nie et al. (2000) cloned full-length ARID1A, which they called BAF250. They noted that the B120 cDNA reported by Takeuchi et al. (1997) contains an unspliced intron at its 5-prime end and a sequencing error, resulting in a frameshift at its 3-prime end. The deduced 2,285-amino acid full-length BAF250 protein is rich in glutamine, proline, and alanine, and it shares 3 regions of conservation with its yeast and fly orthologs, including the ARID domain and 2 C-terminal regions containing LxxLL motifs. Swi1 is the closest ortholog of BAF250 in yeast. Northern blot analysis revealed wide expression of a 9.5-kb BAF250 transcript. </p>
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<strong>Gene Function</strong>
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<p>To examine the function of B120, Takeuchi et al. (1998) introduced B120 cDNA with an expression vector into various cell lines, including COS-1, C3H/10T1/2, and NIH 3T3 cells. These transfected cells exhibited small cytoplasmic spherical bodies. The cytoplasmic bodies appeared to be fat droplets on electron microscopy and histochemical staining. These findings suggested that B120 gene expression is associated with lipid metabolism and that overexpression of B120 may result in lipid deposition in various cells, including those of fibroblastic cell lines. </p><p>Dallas et al. (2000) showed that in vitro-translated human p270 bound immobilized native DNA. Deletion and mutation analysis revealed that DNA binding was confined to the ARID region and required conserved trp and tyr residues. Cloning and sequencing of DNA oligomers bound by the ARID region of p270 revealed no common motifs or sequence preferences. </p><p>By sequencing peptides that immunopurified with BAF and PBAF (see PBRM1; 606083) chromatin remodeling complexes, Nie et al. (2000) identified BAF250 as a component of the BAF complex only. The BAF complex possessed ATP-dependent mononucleosome disruption activity against a 176-bp fragment of 5S ribosomal DNA containing a nucleosome-positioning sequence. The intact BAF complex or a chimeric protein that included only the ARID domain of BAF250 bound a fragment containing the pyrimidine-rich element of the delta-globin (HBD;142000) gene. BAF250 also enhanced glucocorticoid receptor (GR, or GCCR; 138040)-mediated transcriptional activation following transfection of BAF250 into BAF250-negative human T47D breast cancer cells. The amount of BAF250 that associated with GR increased in the presence of glucocorticoid. Deletion of the conserved C-terminal region of BAF250 decreased its GR-dependent activation about 70%, and deletion of the ARID domain of BAF250 had a lesser effect. </p><p>By gel filtration, mass spectrometry, and Western blot analysis of human cell lines, Nie et al. (2003) identified unique low-abundance SWI/SWF complexes that contained ENL (MLLT1; 159556), several common SWI/SNF subunits, and either BAF250A or BAF250B (ARID1B; 614556). Both BAF250A- and BAF250B-containing complexes displayed ATP-dependent mononucleosome disruption activity in vitro. </p><p>To explore the genetic origin of ovarian clear-cell carcinoma (167000), Jones et al. (2010) determined the exomic sequences of 8 tumors after immunoaffinity purification of cancer cells. Through comparative analyses of normal cells from the same patients, Jones et al. (2010) identified 4 genes that were mutated in at least 2 tumors. Two of these genes, ARID1A and PPP2R1A (605983), which encodes a regulatory subunit of serine/threonine phosphatase-2, were not known to be involved in ovarian clear-cell carcinoma. The other 2 genes, previously implicated in ovarian clear-cell carcinoma, were PIK3CA (171834) and KRAS (190070). The nature and pattern of the mutations suggest that PPP2R1A functions as an oncogene and ARID1A as a tumor-suppressor gene. In a total of 42 ovarian clear-cell carcinomas, 7% had mutations in PPP2R1A and 57% had mutations in ARID1A. Jones et al. (2010) concluded that their results suggested that aberrant chromatin remodeling contributes to the pathogenesis of ovarian clear-cell carcinoma. </p><p>Dykhuizen et al. (2013) showed that BAF complexes decatenate newly replicated sister chromatids, a requirement for proper chromosome segregation during mitosis. Dykhuizen et al. (2013) found that deletion of Brg1 (603254) in mouse cells, as well as the expression of BRG1 point mutations identified in human tumors, leads to anaphase bridge formation (in which sister chromatids are linked by catenated strands of DNA) and a G2/M-phase block characteristic of the decatenation checkpoint. Endogenous BAF complexes interact directly with endogenous topoisomerase II-alpha (TOP2A; 126430) through BAF250a and are required for the binding of TOP2A to approximately 12,000 sites across the genome. Dykhuizen et al. (2013) concluded that TOP2A chromatin binding is dependent on the ATPase activity of BRG1, which is compromised in oncogenic BRG1 mutants. They further concluded that the ability of TOP2A to prevent DNA entanglement at mitosis requires BAF complexes and suggested that this activity contributes to the role of BAF subunits as tumor suppressors. </p><p>By comparing Arid1a -/- mice and ARID1A -/- HC116 human colon cancer cell lines with normal controls, Mathur et al. (2017) found that ARID1A was required to target SWI/SNF complexes to enhancers, but not promoters, in chromatin. Loss of ARID1A did not effect SWI/SNF complexes containing ARID1B. ARID1A -/- cells showed loss of acetylated histone H3 (see 602810) at enhancers distal to transcriptional start sites, and this correlated with loss of transcription at the nearest genes. Mathur et al. (2017) concluded that ARID1A is required for SWI/SNF-dependent and enhancer-mediated gene regulation. </p><p>Using a combination of gain- and loss-of-function approaches in several cellular contexts, Chang et al. (2018) showed that YAP (606608) and TAZ (607392) are necessary to induce the effects of the inactivation of the SWI/SNF complex, such as cell proliferation, acquisition of stem cell-like traits, and liver tumorigenesis. Chang et al. (2018) found that YAP/TAZ form a complex with SWI/SNF; this interaction is mediated by ARID1A and is alternative to the association of YAP/TAZ with the DNA-binding platform TEAD. Cellular mechanotransduction regulates the association between ARID1A-SWI/SNF and YAP/TAZ. The inhibitory interaction of ARID1A-SWI/SNF and YAP/TAZ is predominant in cells that experience low mechanical signaling, in which loss of ARID1A rescues the association between YAP/TAZ and TEAD. At high mechanical stress, nuclear F-actin binds to ARID1A-SWI/SNF, thereby preventing the formation of the ARID1A-SWI/SNF-YAP/TAZ complex, in favor of an association between TEAD and YAP/TAZ. Chang et al. (2018) proposed that a dual requirement must be met to fully enable the YAP/TAZ responses: promotion of nuclear accumulation of YAP/TAZ, for example, by loss of Hippo signaling, and inhibition of ARID1A-SWI/SNF, which can occur either through genetic inactivation or because of increased cell mechanics. Chang et al. (2018) concluded that their study offered a molecular framework in which mechanical signals that emerge at the tissue level together with genetic lesions activate YAP/TAZ to induce cell plasticity and tumorigenesis. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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<p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
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He et al. (2020) reported the 3.7-angstrom resolution cryoelectron microscopy structure of the human BRG1/BRM-associated factor (BAF) complex, consisting of the catalytic subunit SMARCA4 (BRG1) and 9 auxiliary subunits, including ARID1A, bound to the nucleosome. The structure revealed that the nucleosome is sandwiched by the base and the ATPase modules, which are bridged by the actin-related protein (ARP) module, composed of an ACTL6A (604958)-ACTB (102630) heterodimer and the long alpha helix of the helicase-SANT-associated region (HSA) of SMARCA4. The ATPase motor is positioned proximal to nucleosomal DNA and, upon ATP hydrolysis, engages with and pumps DNA along the nucleosome. The C-terminal alpha helix of SMARCB1 (601607), enriched in positively charged residues frequently mutated in cancers, mediates interactions with an acidic patch of the nucleosome. ARID1A and the SWI/SNF complex subunit SMARCC (601732) serve as a structural core and scaffold in the base module organization, respectively. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Takeuchi et al. (1998) mapped the ARID1A gene to chromosome 1p36.1-p35 by fluorescence in situ hybridization. Several human disorders, including Schnyder crystalline corneal dystrophy (121800), map to the 1p36.1-p35 region by genetic linkage. Since the cornea is composed of fibroblastic cells, Takeuchi et al. (1998) suggested that overfunction of ARID1A may be related to the pathogenesis of Schnyder crystalline corneal dystrophy. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Coffin-Siris Syndrome 2</em></strong></p><p>
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In 3 patients with Coffin-Siris syndrome-2 (CSS2; 614607), Tsurusaki et al. (2012) identified heterozygous mutations in the ARID1A gene (603024.0001-603024.0003). </p><p>Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, Wieczorek et al. (2013) identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows similar features. Only 1 patient had a heterozygous truncating mutation in the ARID1A gene, which was likely somatic mosaic (R1989X; 603024.0004). Functional studies of the variant were not performed. </p><p>In 4 unrelated patients with CSS2, Santen et al. (2013) identified 4 different de novo heterozygous pathogenic mutations in the ARID1A gene (see, e.g., 603024.0005-603024.0006). The mutations were all shown to be somatic mosaic, although to different extents. Santen et al. (2013) noted that homozygous loss of the Arid1a gene is embryonic lethal in mice, and suggested that truncating germline variants in the ARID1A gene may be embryonic lethal in humans as well. The patients were ascertained from a large cohort of 63 patients with a clinical diagnosis of CSS who were screened for mutations in the 6 genes of the BAF complex. Functional studies of the variants were not performed. </p><p><strong><em>Somatic ARID1A Mutations in Cancer</em></strong></p><p>
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Wiegand et al. (2010) sequenced the whole transcriptomes of 18 ovarian clear-cell carcinomas and 1 ovarian clear-cell carcinoma cell line and found somatic mutations in ARID1A in 6 of the samples. ARID1A encodes BAF250a, a key component of the SWI-SNF chromatin remodeling complex. Wiegand et al. (2010) then sequenced ARID1A in an additional 210 ovarian carcinomas and a second ovarian clear-cell carcinoma cell line and measured BAF250a expression by means of immunohistochemical analysis in an additional 455 ovarian carcinomas. ARID1A mutations were seen in 55 of 119 ovarian clear-cell carcinomas (46%), 10 of 33 endometrioid carcinomas (30%), and none of the 76 high-grade serous ovarian carcinomas. Seventeen of the carcinomas had 2 somatic mutations each. Loss of the BAF250a protein correlated strongly with the ovarian clear-cell carcinoma and endometrioid carcinoma subtypes and the presence of ARID1A mutations. In 2 patients, ARIDIA mutations and loss of BAF250a expression were evident in the tumor and contiguous atypical endometriosis but not in distal endometriotic lesions. Wiegand et al. (2010) concluded that these data implicated ARID1A in as a tumor suppressor gene frequently disrupted in ovarian clear-cell and endometrioid carcinoma. Since ARID1A mutation and loss of BAF250a can be seen in preneoplastic lesions, Wiegand et al. (2010) speculated that mutation of ARID1A is an early event in the transformation of endometriosis into cancer. </p><p>The finding of frequent ARID1A mutations in ovarian clear-cell and endometrioid carcinomas by Wiegand et al. (2010) suggested to Nissenblatt (2011) that such tumors may be of mullerian rather than coelomic derivation. Nissenblatt (2011) noted that the 3 most common types of ovarian carcinoma, i.e., serous, endometrioid, and mucinous, are histologically identical to tumors of the fallopian tube, endometrium, and endocervix, tumors known to arise from the embryonic mullerian duct. In a reply to the comments of Nissenblatt (2011), Huntsman et al. (2011) suggested that endometrioid carcinomas of the ovary and clear-cell carcinomas should be included with similar uterine cancers in clinical trials. </p><p>Birnbaum et al. (2011) profiled pancreatic carcinoma samples from 39 patients and 8 cell lines using high-resolution array comparative genomic hybridization and found a heterozygous deletion of the 1p35 chromosomal region in 56.4% of tumors and 5 cell lines. This region, which is commonly deleted in human cancers, includes ARID1A, which is involved in chromatin remodeling and is suspected to be a tumor suppressor gene. Sequencing of ARID1A exons detected 2 acquired heterozygous mutations (1 nonsense and 1 missense) in tumors. These mutations were different from those reported in ovarian cancer. Birnbaum et al. (2011) concluded that their results suggested a potential role of ARID1A and aberrant chromatin remodeling in pancreatic carcinoma and showed that the spectrum of ARID1A alterations, including deletions, may be large. Huntsman et al. (2011) stated that the findings of Birnbaum et al. (2011) added to a body of evidence implicating abnormalities in chromatin-remodeling complexes, and in particular the BAF250a-containing SWI/SNF nucleosome remodeling complex, as key events in many cancers. </p><p>Le Gallo et al. (2012) used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors (see 608089), and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. Le Gallo et al. (2012) identified a high frequency of somatic mutation (6%) in the ARID1A gene. </p><p>Jiao et al. (2013) detected somatic ARID1A mutations in 6 of 32 (19%) intrahepatic cholangiocarcinomas (615619) in a discovery screen and in 3 of 32 (9%) independent intrahepatic cholangiocarcinomas in the prevalence screen. Chan-on et al. (2013) identified somatic ARID1A mutations in 9 of 86 (10.5%) non-O.viverrini cholangiocarcinomas and in 19 of 108 (17.6%) O. viverrini-related cholangiocarcinomas. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gao et al. (2008) found that complete absence of Baf250a in mice was embryonic lethal, resulting in developmental arrest around day E6.5 without formation of a primitive streak or mesoderm, indicating its critical role in early germ-layer formation at gastrulation. Cellular studies showed that Baf250a deficiency in embryonic stem cells compromised embryonic cell pluripotency, inhibited self-renewal, and promoted differentiation into primitive endoderm-like cells. </p><p>Krosl et al. (2010) generated a mutant mouse strain harboring a Baf250a allele lacking exons 2 and 3. Transcripts from this allele were expressed at normal levels and encoded a Baf250 protein lacking 150 amino acids within the N-terminal region. Heterozygous mutant mice were healthy for over 12 months, but no homozygous mutant offspring were obtained. Krosl et al. (2010) examined hemopoiesis in homozygous mutant fetal liver and found that Baf250a was not required for hemopoietic stem cell specification, onset of definitive hemopoiesis, or differentiation of blood cells. However, stromal cell layers established from homozygous mutant fetal liver cells were more efficient than wildtype fetal liver cells in in vitro maintenance and expansion of primitive hemopoietic cells. This advantage was associated with enhanced expression of transcripts encoding soluble factors associated with hematopoietic stem cell growth and reduced expression of transcripts associated with cell senescence or oxidative stress-induced apoptosis. Krosl et al. (2010) hypothesized that BAF250A controls the size of the fetal liver hematopoietic stem cell pool through regulation of the fetal liver microenvironment. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 COFFIN-SIRIS SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARID1A, 26-BP DEL, NT31
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<br />
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SNP: rs797045262,
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ClinVar: RCV000023227, RCV000480869, RCV003314556
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In Patient 3 with Coffin-Siris syndrome (CSS2; 614607), Tsurusaki et al. (2012) detected a heterozygous 26-bp deletion (31_56del) in the ARID1A gene, resulting in frameshift and premature termination 91 amino acids downstream (Ser11AlafsTer91). The patient presented with hepatoblastoma as well as multiple congenital anomalies. This mutation was not identified in 330 control chromosomes or in the dbSNP (build 132), 1000 Genomes Project, or Exome Sequencing Project databases. The parents were unavailable for testing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 COFFIN-SIRIS SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARID1A, GLN920TER
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<br />
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SNP: rs387906845,
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ClinVar: RCV000023228
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In Patient 6 with Coffin-Siris syndrome (CSS2; 614607), Tsurusaki et al. (2012) detected a heterozygous C-to-T transition at nucleotide 2758 of the ARID1A gene that resulted in a gln-to-ter substitution at codon 920 (Q920X). This mutation was not identified in 376 control chromosomes or in the dbSNP (build 132), 1000 Genomes Project, or Exome Sequencing Project databases. The parents were unavailable for testing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 COFFIN-SIRIS SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARID1A, ARG1335TER
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<br />
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SNP: rs387906846,
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ClinVar: RCV000023229, RCV000856779
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In Patient 8 with Coffin-Siris syndrome (CSS2; 614607), Tsurusaki et al. (2012) detected a heterozygous C-to-T transition at nucleotide 4003 of the ARID1A gene, resulting in an arg-to-ter substitution at codon 1335 (R1335X). The mutation occurred as a de novo event. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARID1A, ARG1989TER
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<br />
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SNP: rs879255270,
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ClinVar: RCV000211084, RCV004668851, RCV004719761
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient (K2435) with Coffin-Siris syndrome-2 (CSS2; 614607), Wieczorek et al. (2013) identified a de novo heterozygous c.5965C-T transition in exon 20 of the ARID1A gene, resulting in an arg1989-to-ter (R1989X) substitution. The mutant allele was detected at a lower proportion than the wildtype allele, indicating the presence of somatic mosaicism in the individual. The patient was 1 of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome who underwent sequencing of 23 SWI/SNF complex genes. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
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|
|
ARID1A, 1-BP DEL, NT1113
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|
<br />
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|
|
SNP: rs875989848,
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|
|
|
gnomAD: rs875989848,
|
|
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|
|
|
ClinVar: RCV000211061, RCV004668852
|
|
|
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|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 48) with Coffin-Siris syndrome-2 (CSS2; 614607), Santen et al. (2013) identified a de novo heterozygous 1-bp deletion (c.1113del, NM_006015.4) in exon 1 of the ARID1A gene, resulting in a frameshift and premature termination (Gln372SerfsTer19). The mutant peak was lower than the wildtype peak, suggesting somatic mosaicism. </p>
|
|
</span>
|
|
</div>
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|
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<div>
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<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 COFFIN-SIRIS SYNDROME 2, SOMATIC MOSAIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ARID1A, GLU1227TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs875989849,
|
|
|
|
|
|
|
|
ClinVar: RCV000211078
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 26) with Coffin-Siris syndrome-2 (CSS2; 614607), Santen et al. (2013) identified a de novo heterozygous c.3679G-T transversion (c.3679G-T, NM_006015.4) in exon 14 of the ARID1A gene, resulting in a glu1227-to-ter (E1227X) substitution. The mutant peak was lower than the wildtype peak, suggesting somatic mosaicism. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
|
<ol>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Birnbaum, D. J., Birnbaum, D., Bertucci, F.
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|
<strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong>
|
|
New Eng. J. Med. 364: 483-484, 2011.
|
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|
[PubMed: 21288104]
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[Full Text: https://doi.org/10.1056/NEJMc1012780]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chan-on, W., Nairismagi, M.-L., Ong, C. K., Lim, W. K., Dima, S., Pairojkul, C., Lim, K. H., McPherson, J. R., Cutcutache, I., Heng, H. L., Ooi, L., Chung, A., and 27 others.
|
|
<strong>Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.</strong>
|
|
Nature Genet. 45: 1474-1478, 2013.
|
|
|
|
|
|
[PubMed: 24185513]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2806]
|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chang, L., Azzolin, L., Di Biagio, D., Zanconato, F., Battilana, G., Lucon Xiccato, R., Aragona, M., Giulitti, S., Panciera, T., Gandin, A., Sigismondo, G., Krijgsveld, J., Fassan, M., Brusatin, G., Cordenonsi, M., Piccolo, S.
|
|
<strong>The SWI/SNF complex is a mechanoregulated inhibitor of YAP and TAZ.</strong>
|
|
Nature 563: 265-269, 2018.
|
|
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[PubMed: 30401838]
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|
|
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[Full Text: https://doi.org/10.1038/s41586-018-0658-1]
|
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</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
|
|
Dallas, P. B., Pacchione, S., Wilsker, D., Bowrin, V., Kobayashi, R., Moran, E.
|
|
<strong>The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity.</strong>
|
|
Molec. Cell. Biol. 20: 3137-3146, 2000.
|
|
|
|
|
|
[PubMed: 10757798]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/MCB.20.9.3137-3146.2000]
|
|
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</p>
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</li>
|
|
|
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<li>
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<p class="mim-text-font">
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Dykhuizen, E. C., Hargreaves, D. C., Miller, E. L., Cui, K., Korshunov, A., Kool, M., Pfister, S., Cho, Y.-J., Zhao, K., Crabtree, G. R.
|
|
<strong>BAF complexes facilitate decatenation of DNA by topoisomerase II-alpha.</strong>
|
|
Nature 497: 624-627, 2013.
|
|
|
|
|
|
[PubMed: 23698369]
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|
|
|
|
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[Full Text: https://doi.org/10.1038/nature12146]
|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gao, X., Tate, P., Hu, P., Tjian, R., Skarnes, W. C., Wang, Z.
|
|
<strong>ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 6656-6661, 2008.
|
|
|
|
|
|
[PubMed: 18448678]
|
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|
|
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|
[Full Text: https://doi.org/10.1073/pnas.0801802105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
He, S., Wu, Z., Tian, Y., Yu, Z., Yu, J., Wang, X., Li, J., Liu, B., Xu, Y.
|
|
<strong>Structure of nucleosome-bound human BAF complex.</strong>
|
|
Science 367: 875-881, 2020.
|
|
|
|
|
|
[PubMed: 32001526]
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[Full Text: https://doi.org/10.1126/science.aaz9761]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Huntsman, D., Wiegand, K. C., Gilks, B.
|
|
<strong>Reply to Nissenblatt and Birnbaum et al. (Letter)</strong>
|
|
New Eng. J. Med. 364: 484-485, 2011.
|
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jiao, Y., Pawlik, T. M., Anders, R. A., Selaru, F. M., Streppel, M. M., Lucas, D. J., Niknafs, N., Guthrie, V. B., Maitra, A., Argani, P., Offerhaus, G. J. A., Roa, J. C., and 24 others.
|
|
<strong>Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.</strong>
|
|
Nature Genet. 45: 1470-1473, 2013.
|
|
|
|
|
|
[PubMed: 24185509]
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[Full Text: https://doi.org/10.1038/ng.2813]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jones, S., Wang, T.-L., Shih, I.-M., Mao, T.-L., Nakayama, K., Roden, R., Glas, R., Slamon, D., Diaz, L. A., Jr., Vogelstein, B., Kinzler, K. W., Velculescu, V. E., Papadopoulos, N.
|
|
<strong>Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.</strong>
|
|
Science 330: 228-231, 2010.
|
|
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|
|
[PubMed: 20826764]
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[Full Text: https://doi.org/10.1126/science.1196333]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Krosl, J., Mamo, A., Chagraoui, J., Wilhelm, B. T., Girard, S., Louis, I., Lessard, J., Perreault, C., Sauvageau, G.
|
|
<strong>A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.</strong>
|
|
Blood 116: 1678-1684, 2010.
|
|
|
|
|
|
[PubMed: 20522713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2010-03-273862]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
|
|
<strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong>
|
|
Nature Genet. 44: 1310-1315, 2012.
|
|
|
|
|
|
[PubMed: 23104009]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2455]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mathur, R., Alver, B. H., San Roman, A. K., Wilson, B. G., Wang, X., Agoston, A. T., Park, P. J., Shivdasani, R. A., Roberts, C. W. M.
|
|
<strong>ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice.</strong>
|
|
Nature Genet. 49: 296-302, 2017.
|
|
|
|
|
|
[PubMed: 27941798]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.3744]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nie, Z., Xue, Y., Yang, D., Zhou, S., Deroo, B. J., Archer, T. K., Wang, W.
|
|
<strong>A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.</strong>
|
|
Molec. Cell. Biol. 20: 8879-8888, 2000.
|
|
|
|
|
|
[PubMed: 11073988]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/MCB.20.23.8879-8888.2000]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nie, Z., Yan, Z., Chen, E. H., Sechi, S., Ling, C., Zhou, S., Xue, Y., Yang, D., Murray, D., Kanakubo, E., Cleary, M. L., Wang, W.
|
|
<strong>Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.</strong>
|
|
Molec. Cell. Biol. 23: 2942-2952, 2003.
|
|
|
|
|
|
[PubMed: 12665591]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/MCB.23.8.2942-2952.2003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nissenblatt, M.
|
|
<strong>Endometriosis-associated ovarian carcinomas. (Letter)</strong>
|
|
New Eng. J. Med. 364: 482-483, 2011.
|
|
|
|
|
|
[PubMed: 21288105]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1012780]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., and 11 others.
|
|
<strong>Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.</strong>
|
|
Hum. Mutat. 34: 1519-1528, 2013.
|
|
|
|
|
|
[PubMed: 23929686]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.22394]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takeuchi, T., Chen, B. K., Qiu, Y., Sonobe, H., Ohtsuki, Y.
|
|
<strong>Molecular cloning and expression of a novel human cDNA containing CAG repeats.</strong>
|
|
Gene 204: 71-77, 1997.
|
|
|
|
|
|
[PubMed: 9434167]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0378-1119(97)00525-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takeuchi, T., Furihata, M., Heng, H. H. Q., Sonobe, H., Ohtsuki, Y.
|
|
<strong>Chromosomal mapping and expression of the human B120 gene.</strong>
|
|
Gene 213: 189-193, 1998.
|
|
|
|
|
|
[PubMed: 9630625]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0378-1119(98)00194-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others.
|
|
<strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong>
|
|
Nature Genet. 44: 376-378, 2012.
|
|
|
|
|
|
[PubMed: 22426308]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2219]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others.
|
|
<strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong>
|
|
Hum. Molec. Genet. 22: 5121-5135, 2013.
|
|
|
|
|
|
[PubMed: 23906836]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddt366]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., Yang, W., Heravi-Moussavi, A. and 32 others.
|
|
<strong>ARID1A mutations in endometriosis-associated ovarian carcinomas.</strong>
|
|
New Eng. J. Med. 363: 1532-1543, 2010.
|
|
|
|
|
|
[PubMed: 20942669]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1008433]
|
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