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Entry
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- *609118 - PROGRAMMED CELL DEATH 10; PDCD10
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- OMIM
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<p>
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<span class="h4">*609118</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</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/609118">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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</ul>
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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 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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<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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<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=ENSG00000114209;t=ENST00000392750" 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=11235" 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=609118" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000114209;t=ENST00000392750" 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_007217,NM_145859,NM_145860,XM_005247086,XM_005247087,XM_005247088,XM_006713485,XM_011512368,XM_011512369,XM_017005644,XM_047447374,XM_047447375" 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_007217" 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=609118" 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=10141&isoform_id=10141_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/PDCD10" 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/2465729,12803371,16741006,20127517,22538792,22538794,48146331,74733232,119598980,119598981,119598982,119598983,119598984,119598985,119598986,119598987,158255696,530373856,530373858,530373860,578807020,767925584,767925586,1034630983,2217341621,2217341623,2462586824,2462586826,2462586828,2462586830,2462586832,2462586834,2462586836,2462586838,2462586840" 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/Q9BUL8" 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 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=11235" 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=ENSG00000114209;t=ENST00000392750" 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=PDCD10" 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=PDCD10" 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+11235" 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/PDCD10" 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:11235" 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/11235" 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=chr3&hgg_gene=ENST00000392750.7&hgg_start=167683298&hgg_end=167734892&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/pdcd10" 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=609118[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 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=609118[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/PDCD10/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/ENSG00000114209" 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=PDCD10" 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=PDCD10" 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=PDCD10" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PDCD10&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/PA33111" 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:8761" 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/FBgn0038331.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:1928396" 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/PDCD10#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:1928396" 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/11235/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=11235" 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=WBGene00007561;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-040426-1432" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11235" 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=PDCD10&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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609118
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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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PROGRAMMED CELL DEATH 10; PDCD10
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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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CCM3 GENE<br />
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TFAR15
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PDCD10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PDCD10</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/3/842?start=-3&limit=10&highlight=842">3q26.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:167683298-167734892&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'})">3:167,683,298-167,734,892</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/3/842?start=-3&limit=10&highlight=842">
|
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3q26.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Cerebral cavernous malformations-3
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/entry/603285"> 603285 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609118" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609118" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
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<p><a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> noted that PDCD10 cDNA was originally cloned on the basis of its upregulated expression in the human myeloid cell line TF-1, in which apoptosis was induced by deprivation of granulocyte macrophage colony-stimulating factor (CSF2; <a href="/entry/138960">138960</a>), and that PDCD10 cDNA and genomic structures were reported in several genome databases with more than 150 reported ESTs. The coding portion of the cDNA is 636 bp long and encodes a 212-amino acid predicted protein. Three alternative transcripts that differed only in their 5-prime untranslated regions had been identified. Database searches by <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> did not identify any paralog but identified several strongly conserved orthologs both in vertebrate and invertebrate species. Searches of protein databases with the coding sequence of human PDCD10 did not reveal a signal peptide, transmembrane domain, or any known functional domain. Northern blot analysis showed varying levels of a 1.35-kb transcript in all tissues tested, with highest expression in heart, skeletal muscle, and placenta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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>The PDCD10 gene extends more than 50 kb and includes 7 coding exons and three 5-prime noncoding exons (<a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al., 2005</a>). The ATG initiator codon is located in the fourth exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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>The implication of the PDCD10 gene in cerebral cavernous malformations strongly suggested that it is a new player in vascular morphogenesis and/or remodeling (<a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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 GST pull-down and coimmunoprecipitation analysis, <a href="#8" class="mim-tip-reference" title="Voss, K., Stahl, S., Schleider, E., Ullrich, S., Nickel, J., Mueller, T. D., Felbor, U. <strong>CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.</strong> Neurogenetics 8: 249-256, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17657516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17657516</a>] [<a href="https://doi.org/10.1007/s10048-007-0098-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17657516">Voss et al. (2007)</a> demonstrated that CCM2/malcavernin (<a href="/entry/607929">607929</a>) coprecipitated and colocalized with PDCD10. Yeast 2-hybrid analysis showed that PDCD10 directly bound to STK25 (<a href="/entry/602255">602255</a>) and the phosphatase domain of FAP1 (<a href="/entry/600267">600267</a>). PDCD10 was phosphorylated by STK25, whereas the C-terminal domain of FAP1 dephosphorylated PDCD10. Further experiments showed that STK25 and CCM2 formed a protein complex. The findings linked PDCD10 and STK25 with CCM2, which is part of signaling pathways that are essential for vascular development. <a href="#8" class="mim-tip-reference" title="Voss, K., Stahl, S., Schleider, E., Ullrich, S., Nickel, J., Mueller, T. D., Felbor, U. <strong>CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.</strong> Neurogenetics 8: 249-256, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17657516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17657516</a>] [<a href="https://doi.org/10.1007/s10048-007-0098-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17657516">Voss et al. (2007)</a> hypothesized that PDCD10 is part of the KRIT1 (<a href="/entry/604214">604214</a>)/CCM2 protein complex through its interaction with CCM2, and therefore may participate in CCM1-dependent modulation of beta-1 integrin (ITGB1; 135630) signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17657516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Borikova, A. L., Dibble, C. F., Sciaky, N., Welch, C. M., Abell, A. N., Bencharit, S., Johnson, G. L. <strong>Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype.</strong> J. Biol. Chem. 285: 11760-11764, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20181950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20181950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20181950[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/10.1074/jbc.C109.097220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20181950">Borikova et al. (2010)</a> showed that knockdown of Ccm1, Ccm2, or Ccm3 in mouse embryonic endothelial cells induced RhoA (<a href="/entry/165390">165390</a>) overexpression and persistent RhoA activity at the cell edge, as well as in the cytoplasm and nucleus. RhoA activation was especially pronounced following Ccm1 knockdown. Knockdown of Ccm1, Ccm2, or Ccm3 inhibited formation of vessel-like tubes and invasion of extracellular matrix. Knockdown or inhibition of Rock2 (<a href="/entry/604002">604002</a>) countered these effects and was associated with inhibition of RhoA-stimulated phosphorylation of myosin light chain-2 (MLC2; see <a href="/entry/160781">160781</a>). <a href="#3" class="mim-tip-reference" title="Borikova, A. L., Dibble, C. F., Sciaky, N., Welch, C. M., Abell, A. N., Bencharit, S., Johnson, G. L. <strong>Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype.</strong> J. Biol. Chem. 285: 11760-11764, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20181950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20181950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20181950[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/10.1074/jbc.C109.097220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20181950">Borikova et al. (2010)</a> concluded that the CCM protein complex regulates RhoA activation and cytoskeletal dynamics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20181950" 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>Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and cerebral hemorrhages, which can result in focal neurologic deficits. Several genetic forms have been identified: 1 form, CCM1 (<a href="/entry/116860">116860</a>) which maps to 7q, is caused by loss-of-function mutations in the KRIT1 gene. A second form, CCM2 (<a href="/entry/603284">603284</a>), which maps to 7p, is due to loss-of-function mutations in the CCM2 gene. <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> reported the identification of PDCD10 as the gene mutant in CCM3, which had been mapped to 3q26-q27. <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> hypothesized that genomic deletions might occur at the CCM3 locus, as reported previously to occur at the CCM2 locus. Using high-density microsatellite genotyping of 20 families, they identified, in 1 of these, null alleles that resulted from deletion within an interval overlapping the previously identified linkage mapping interval. They found that PDCD10, which was 1 of 5 known genes mapping within this interval, contained 6 distinct deleterious mutations in 7 families. Three of these mutations were nonsense mutations, and 2 led to an aberrant splicing of exon 9, with a frameshift and a longer open reading frame within exon 10. The last of the 6 mutations led to an aberrant splicing of exon 5, without frameshift. Three of these mutations occurred de novo. All of them cosegregated with the disease in the families and were not observed in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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 screening 8 exons of the PDCD10 gene, <a href="#7" class="mim-tip-reference" title="Verlaan, D. J., Roussel, J., Laurent, S. B., Elger, C. E., Siegel, A. M., Rouleau, G. A. <strong>CCM3 mutations are uncommon in cerebral cavernous malformations.</strong> Neurology 65: 1982-1983, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380626</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188903.75144.49" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380626">Verlaan et al. (2005)</a> identified 2 different heterozygous mutations in 2 of 15 unrelated families with CCM that did not have mutations in the KRIT1 or CCM2 genes. The findings suggested that mutations in the PDCD10 gene account for only a small percentage of CCM families and that there is likely another causative gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian patient with CCM3, <a href="#5" class="mim-tip-reference" title="Liquori, C. L., Penco, S., Gault, J., Leedom, T. P., Tassi, L., Esposito, T., Awad, I. A., Frati, L., Johnson, E. W., Squitieri, F., Marchuk, D. A., Gianfrancesco, F. <strong>Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.</strong> Neurogenetics 9: 25-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18060436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18060436</a>] [<a href="https://doi.org/10.1007/s10048-007-0109-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18060436">Liquori et al. (2008)</a> identified a heterozygous deletion of the entire gene (<a href="#0007">609118.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18060436" 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>For each of the 3 CCM genes, <a href="#6" class="mim-tip-reference" title="Pagenstecher, A., Stahl, S., Sure, U., Felbor, U. <strong>A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.</strong> Hum. Molec. Genet. 18: 911-918, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088124[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/10.1093/hmg/ddn420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19088124">Pagenstecher et al. (2009)</a> showed complete localized loss of either KRIT1, CCM2/malcavernin, or PDCD10 protein expression depending on the respective inherited mutation. Cavernous but not adjacent normal or reactive endothelial cells of known germline mutation carriers displayed immunohistochemical negativity only for the corresponding CCM protein, but stained positively for the 2 other proteins. Immunohistochemical studies demonstrated endothelial cell mosaicism as neoangiogenic vessels within caverns from a CCM1 patient, normal brain endothelium from a CCM2 patient, and capillary endothelial cells of vessels in a revascularized thrombosed cavern from a CCM3 patient stained positively for KRIT1, CCM2/malcavernin, and PDCD10 respectively. <a href="#6" class="mim-tip-reference" title="Pagenstecher, A., Stahl, S., Sure, U., Felbor, U. <strong>A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.</strong> Hum. Molec. Genet. 18: 911-918, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088124[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/10.1093/hmg/ddn420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19088124">Pagenstecher et al. (2009)</a> suggested that complete lack of CCM protein in affected endothelial cells from CCM germline mutation carriers supports a 2-hit mechanism for CCM formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19088124" 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>Through repeated cycles of amplification, subcloning, and sequencing of multiple clones per amplicon, <a href="#1" class="mim-tip-reference" title="Akers, A. L., Johnson, E., Steinberg, G. K., Zabramski, J. M., Marchuk, D. A. <strong>Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.</strong> Hum. Molec. Genet. 18: 919-930, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088123[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/10.1093/hmg/ddn430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19088123">Akers et al. (2009)</a> identified somatic mutations that were otherwise invisible by direct sequencing of the bulk amplicon. Biallelic germline and somatic mutations were identified in CCM lesions from all 3 forms of inherited CCMs. The somatic mutations were found only in a subset of the endothelial cells lining the cavernous vessels and not in interstitial lesion cells. Although widely expressed in the different cell types of the brain, the authors also suggested a unique role for the CCM proteins in endothelial cell biology. <a href="#1" class="mim-tip-reference" title="Akers, A. L., Johnson, E., Steinberg, G. K., Zabramski, J. M., Marchuk, D. A. <strong>Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.</strong> Hum. Molec. Genet. 18: 919-930, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088123[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/10.1093/hmg/ddn430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19088123">Akers et al. (2009)</a> suggested that CCM lesion genesis may require complete loss of function for 1 of the CCM genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19088123" 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="#4" class="mim-tip-reference" title="Boulday, G., Rudini, N., Maddaluno, L., Blecon, A., Arnould, M., Gaudric, A., Chapon, F., Adams, R. H., Dejana, E., Tournier-Lasserve, E. <strong>Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.</strong> J. Exp. Med. 208: 1835-1847, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21859843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21859843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21859843[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/10.1084/jem.20110571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21859843">Boulday et al. (2011)</a> noted that deletion of Ccm1, Ccm2, or Ccm3 in mice is embryonic lethal. They generated mice with an endothelial-specific Ccm2 deletion at postnatal day 1, which resulted in vascular lesions mimicking human CCM lesions. Deletion of Ccm1 or Ccm3 at postnatal day 1 resulted in similar cerebellar and retinal lesions. Ccm2 lesion development was restricted to the venous bed. <a href="#4" class="mim-tip-reference" title="Boulday, G., Rudini, N., Maddaluno, L., Blecon, A., Arnould, M., Gaudric, A., Chapon, F., Adams, R. H., Dejana, E., Tournier-Lasserve, E. <strong>Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.</strong> J. Exp. Med. 208: 1835-1847, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21859843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21859843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21859843[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/10.1084/jem.20110571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21859843">Boulday et al. (2011)</a> concluded that the consequences of Ccm2 deletion depend on the developmental timing of the ablation and are associated with a developmental stage with intense angiogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21859843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 families, <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found that individuals with cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>) had a C-to-T transition at nucleotide 586 in exon 10 of the PDCD10 gene, resulting in a stop codon at codon 196. In 1 family the affected individuals were 2 sisters; in the second family mother and daughter were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family in which mother and daughter had cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>), <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found that the affected individuals carried a C-to-T transition of nucleotide 385 in exon 7 of the PDCD10 gene, resulting in a stop codon at codon 129. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000414133 OR RCV000813410 OR RCV001727711" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000414133, RCV000813410, RCV001727711" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000414133...</a>
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<p><a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found that a single individual with cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>) had a de novo mutation in exon 5 of the PDCD10 gene: 103C-T, resulting in a stop codon at codon 35. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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">rs2108438229 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2108438229;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=rs2108438229" 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=rs2108438229" 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=RCV000001944" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001944" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001944</a>
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<p>In a family in which a father and 2 sons had cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>), <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found a 54-bp deletion in the PDCD10 cDNA that removed nucleotides 97 to 150 (97_150del54). The effect of the mutation was deletion of exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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">rs1553759042 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553759042;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=rs1553759042" 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=rs1553759042" 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=RCV000536749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000536749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000536749</a>
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<p>In a family in which the father and a son had cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>), <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found that affected individuals had a 4-bp deletion involving 1 of the 2 AAGT short repeats located between exon 9 and intron 9 of the PDCD10 gene (556_557+2del4) resulting in abnormal splicing of exon 9, leading to a frameshift and a change in the position of the stop codon (TGA, nt637-639/TGA, nt681-683). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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">rs1577317859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577317859;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=rs1577317859" 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=rs1577317859" 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=RCV000001946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001946</a>
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<p>In a family with a single case of cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>), <a href="#2" class="mim-tip-reference" title="Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie. <strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong> Am. J. Hum. Genet. 76: 42-51, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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/10.1086/426952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15543491">Bergametti et al. (2005)</a> found that the proband had a de novo splice site mutation in intron 8 of the PDCD10 gene (475-1G-A). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15543491" 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>.0007 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001947</a>
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<p>In an Italian patient with cerebral cavernous malformations (CCM3; <a href="/entry/603285">603285</a>), <a href="#5" class="mim-tip-reference" title="Liquori, C. L., Penco, S., Gault, J., Leedom, T. P., Tassi, L., Esposito, T., Awad, I. A., Frati, L., Johnson, E. W., Squitieri, F., Marchuk, D. A., Gianfrancesco, F. <strong>Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.</strong> Neurogenetics 9: 25-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18060436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18060436</a>] [<a href="https://doi.org/10.1007/s10048-007-0109-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18060436">Liquori et al. (2008)</a> identified a heterozygous deletion of the entire PDCD10 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18060436" 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>REFERENCES</strong>
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Akers, A. L., Johnson, E., Steinberg, G. K., Zabramski, J. M., Marchuk, D. A.
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<strong>Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.</strong>
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Hum. Molec. Genet. 18: 919-930, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088123[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=19088123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn430" target="_blank">Full Text</a>]
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Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie.
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<strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong>
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Am. J. Hum. Genet. 76: 42-51, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15543491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15543491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15543491[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=15543491" 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/10.1086/426952" target="_blank">Full Text</a>]
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Borikova, A. L., Dibble, C. F., Sciaky, N., Welch, C. M., Abell, A. N., Bencharit, S., Johnson, G. L.
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<strong>Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype.</strong>
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J. Biol. Chem. 285: 11760-11764, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20181950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20181950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20181950[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=20181950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.C109.097220" target="_blank">Full Text</a>]
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Boulday, G., Rudini, N., Maddaluno, L., Blecon, A., Arnould, M., Gaudric, A., Chapon, F., Adams, R. H., Dejana, E., Tournier-Lasserve, E.
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<strong>Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.</strong>
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J. Exp. Med. 208: 1835-1847, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21859843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21859843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21859843[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=21859843" 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/10.1084/jem.20110571" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Liquori2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liquori, C. L., Penco, S., Gault, J., Leedom, T. P., Tassi, L., Esposito, T., Awad, I. A., Frati, L., Johnson, E. W., Squitieri, F., Marchuk, D. A., Gianfrancesco, F.
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<strong>Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.</strong>
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Neurogenetics 9: 25-31, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18060436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18060436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18060436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-007-0109-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Pagenstecher2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pagenstecher, A., Stahl, S., Sure, U., Felbor, U.
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<strong>A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.</strong>
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Hum. Molec. Genet. 18: 911-918, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19088124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19088124</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19088124[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=19088124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn420" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Verlaan2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verlaan, D. J., Roussel, J., Laurent, S. B., Elger, C. E., Siegel, A. M., Rouleau, G. A.
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<strong>CCM3 mutations are uncommon in cerebral cavernous malformations.</strong>
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Neurology 65: 1982-1983, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000188903.75144.49" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Voss2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Voss, K., Stahl, S., Schleider, E., Ullrich, S., Nickel, J., Mueller, T. D., Felbor, U.
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<strong>CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.</strong>
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Neurogenetics 8: 249-256, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17657516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17657516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17657516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-007-0098-9" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 1/11/2012
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/5/2011<br>George E. Tiller - updated : 8/12/2009<br>Cassandra L. Kniffin - updated : 3/18/2008<br>Cassandra L. Kniffin - updated : 11/27/2007<br>Cassandra L. Kniffin - updated : 4/6/2006
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/17/2004
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</span>
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</div>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/10/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 01/20/2012<br>terry : 1/11/2012<br>mgross : 1/5/2011<br>mgross : 1/5/2011<br>wwang : 8/26/2009<br>terry : 8/12/2009<br>wwang : 4/15/2008<br>ckniffin : 3/18/2008<br>wwang : 12/3/2007<br>ckniffin : 11/27/2007<br>wwang : 4/12/2006<br>ckniffin : 4/6/2006<br>alopez : 12/17/2004
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609118
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PROGRAMMED CELL DEATH 10; PDCD10
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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CCM3 GENE<br />
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TFAR15
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</span>
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</h4>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PDCD10</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q26.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:167,683,298-167,734,892 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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3q26.1
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<td>
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<span class="mim-font">
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Cerebral cavernous malformations-3
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</span>
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</td>
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<td>
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<span class="mim-font">
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603285
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bergametti et al. (2005) noted that PDCD10 cDNA was originally cloned on the basis of its upregulated expression in the human myeloid cell line TF-1, in which apoptosis was induced by deprivation of granulocyte macrophage colony-stimulating factor (CSF2; 138960), and that PDCD10 cDNA and genomic structures were reported in several genome databases with more than 150 reported ESTs. The coding portion of the cDNA is 636 bp long and encodes a 212-amino acid predicted protein. Three alternative transcripts that differed only in their 5-prime untranslated regions had been identified. Database searches by Bergametti et al. (2005) did not identify any paralog but identified several strongly conserved orthologs both in vertebrate and invertebrate species. Searches of protein databases with the coding sequence of human PDCD10 did not reveal a signal peptide, transmembrane domain, or any known functional domain. Northern blot analysis showed varying levels of a 1.35-kb transcript in all tissues tested, with highest expression in heart, skeletal muscle, and placenta. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PDCD10 gene extends more than 50 kb and includes 7 coding exons and three 5-prime noncoding exons (Bergametti et al., 2005). The ATG initiator codon is located in the fourth exon. </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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The implication of the PDCD10 gene in cerebral cavernous malformations strongly suggested that it is a new player in vascular morphogenesis and/or remodeling (Bergametti et al., 2005). </p><p>By GST pull-down and coimmunoprecipitation analysis, Voss et al. (2007) demonstrated that CCM2/malcavernin (607929) coprecipitated and colocalized with PDCD10. Yeast 2-hybrid analysis showed that PDCD10 directly bound to STK25 (602255) and the phosphatase domain of FAP1 (600267). PDCD10 was phosphorylated by STK25, whereas the C-terminal domain of FAP1 dephosphorylated PDCD10. Further experiments showed that STK25 and CCM2 formed a protein complex. The findings linked PDCD10 and STK25 with CCM2, which is part of signaling pathways that are essential for vascular development. Voss et al. (2007) hypothesized that PDCD10 is part of the KRIT1 (604214)/CCM2 protein complex through its interaction with CCM2, and therefore may participate in CCM1-dependent modulation of beta-1 integrin (ITGB1; 135630) signaling. </p><p>Borikova et al. (2010) showed that knockdown of Ccm1, Ccm2, or Ccm3 in mouse embryonic endothelial cells induced RhoA (165390) overexpression and persistent RhoA activity at the cell edge, as well as in the cytoplasm and nucleus. RhoA activation was especially pronounced following Ccm1 knockdown. Knockdown of Ccm1, Ccm2, or Ccm3 inhibited formation of vessel-like tubes and invasion of extracellular matrix. Knockdown or inhibition of Rock2 (604002) countered these effects and was associated with inhibition of RhoA-stimulated phosphorylation of myosin light chain-2 (MLC2; see 160781). Borikova et al. (2010) concluded that the CCM protein complex regulates RhoA activation and cytoskeletal dynamics. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and cerebral hemorrhages, which can result in focal neurologic deficits. Several genetic forms have been identified: 1 form, CCM1 (116860) which maps to 7q, is caused by loss-of-function mutations in the KRIT1 gene. A second form, CCM2 (603284), which maps to 7p, is due to loss-of-function mutations in the CCM2 gene. Bergametti et al. (2005) reported the identification of PDCD10 as the gene mutant in CCM3, which had been mapped to 3q26-q27. Bergametti et al. (2005) hypothesized that genomic deletions might occur at the CCM3 locus, as reported previously to occur at the CCM2 locus. Using high-density microsatellite genotyping of 20 families, they identified, in 1 of these, null alleles that resulted from deletion within an interval overlapping the previously identified linkage mapping interval. They found that PDCD10, which was 1 of 5 known genes mapping within this interval, contained 6 distinct deleterious mutations in 7 families. Three of these mutations were nonsense mutations, and 2 led to an aberrant splicing of exon 9, with a frameshift and a longer open reading frame within exon 10. The last of the 6 mutations led to an aberrant splicing of exon 5, without frameshift. Three of these mutations occurred de novo. All of them cosegregated with the disease in the families and were not observed in 200 control chromosomes. </p><p>By screening 8 exons of the PDCD10 gene, Verlaan et al. (2005) identified 2 different heterozygous mutations in 2 of 15 unrelated families with CCM that did not have mutations in the KRIT1 or CCM2 genes. The findings suggested that mutations in the PDCD10 gene account for only a small percentage of CCM families and that there is likely another causative gene. </p><p>In an Italian patient with CCM3, Liquori et al. (2008) identified a heterozygous deletion of the entire gene (609118.0007). </p><p>For each of the 3 CCM genes, Pagenstecher et al. (2009) showed complete localized loss of either KRIT1, CCM2/malcavernin, or PDCD10 protein expression depending on the respective inherited mutation. Cavernous but not adjacent normal or reactive endothelial cells of known germline mutation carriers displayed immunohistochemical negativity only for the corresponding CCM protein, but stained positively for the 2 other proteins. Immunohistochemical studies demonstrated endothelial cell mosaicism as neoangiogenic vessels within caverns from a CCM1 patient, normal brain endothelium from a CCM2 patient, and capillary endothelial cells of vessels in a revascularized thrombosed cavern from a CCM3 patient stained positively for KRIT1, CCM2/malcavernin, and PDCD10 respectively. Pagenstecher et al. (2009) suggested that complete lack of CCM protein in affected endothelial cells from CCM germline mutation carriers supports a 2-hit mechanism for CCM formation. </p><p>Through repeated cycles of amplification, subcloning, and sequencing of multiple clones per amplicon, Akers et al. (2009) identified somatic mutations that were otherwise invisible by direct sequencing of the bulk amplicon. Biallelic germline and somatic mutations were identified in CCM lesions from all 3 forms of inherited CCMs. The somatic mutations were found only in a subset of the endothelial cells lining the cavernous vessels and not in interstitial lesion cells. Although widely expressed in the different cell types of the brain, the authors also suggested a unique role for the CCM proteins in endothelial cell biology. Akers et al. (2009) suggested that CCM lesion genesis may require complete loss of function for 1 of the CCM genes. </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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<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>Boulday et al. (2011) noted that deletion of Ccm1, Ccm2, or Ccm3 in mice is embryonic lethal. They generated mice with an endothelial-specific Ccm2 deletion at postnatal day 1, which resulted in vascular lesions mimicking human CCM lesions. Deletion of Ccm1 or Ccm3 at postnatal day 1 resulted in similar cerebellar and retinal lesions. Ccm2 lesion development was restricted to the venous bed. Boulday et al. (2011) concluded that the consequences of Ccm2 deletion depend on the developmental timing of the ablation and are associated with a developmental stage with intense angiogenesis. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDCD10, 586C-T
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<br />
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SNP: rs1057517786,
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ClinVar: RCV000414133, RCV000813410, RCV001727711
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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 2 families, Bergametti et al. (2005) found that individuals with cerebral cavernous malformations (CCM3; 603285) had a C-to-T transition at nucleotide 586 in exon 10 of the PDCD10 gene, resulting in a stop codon at codon 196. In 1 family the affected individuals were 2 sisters; in the second family mother and daughter were affected. </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 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDCD10, 385C-T
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<br />
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SNP: rs1577329665,
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ClinVar: RCV000001942
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which mother and daughter had cerebral cavernous malformations (CCM3; 603285), Bergametti et al. (2005) found that the affected individuals carried a C-to-T transition of nucleotide 385 in exon 7 of the PDCD10 gene, resulting in a stop codon at codon 129. </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 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDCD10, 103C-T
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<br />
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ClinVar: RCV000414133, RCV000813410, RCV001727711
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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>Bergametti et al. (2005) found that a single individual with cerebral cavernous malformations (CCM3; 603285) had a de novo mutation in exon 5 of the PDCD10 gene: 103C-T, resulting in a stop codon at codon 35. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDCD10, 54-BP DEL
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<br />
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SNP: rs2108438229,
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ClinVar: RCV000001944
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a family in which a father and 2 sons had cerebral cavernous malformations (CCM3; 603285), Bergametti et al. (2005) found a 54-bp deletion in the PDCD10 cDNA that removed nucleotides 97 to 150 (97_150del54). The effect of the mutation was deletion of exon 5. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PDCD10, 4-BP DEL
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<br />
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SNP: rs1553759042,
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|
|
ClinVar: RCV000536749
|
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</span>
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a family in which the father and a son had cerebral cavernous malformations (CCM3; 603285), Bergametti et al. (2005) found that affected individuals had a 4-bp deletion involving 1 of the 2 AAGT short repeats located between exon 9 and intron 9 of the PDCD10 gene (556_557+2del4) resulting in abnormal splicing of exon 9, leading to a frameshift and a change in the position of the stop codon (TGA, nt637-639/TGA, nt681-683). </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDCD10, IVS8AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1577317859,
|
|
|
|
|
|
|
|
ClinVar: RCV000001946
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with a single case of cerebral cavernous malformations (CCM3; 603285), Bergametti et al. (2005) found that the proband had a de novo splice site mutation in intron 8 of the PDCD10 gene (475-1G-A). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CEREBRAL CAVERNOUS MALFORMATIONS 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDCD10, DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001947
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with cerebral cavernous malformations (CCM3; 603285), Liquori et al. (2008) identified a heterozygous deletion of the entire PDCD10 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akers, A. L., Johnson, E., Steinberg, G. K., Zabramski, J. M., Marchuk, D. A.
|
|
<strong>Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.</strong>
|
|
Hum. Molec. Genet. 18: 919-930, 2009.
|
|
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|
|
[PubMed: 19088123]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddn430]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J. J., Neau, J. P., Parker, F., Tremoulet, M., Tournier-Lasserve, E., Societe Francaise de Neurochirurgie.
|
|
<strong>Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.</strong>
|
|
Am. J. Hum. Genet. 76: 42-51, 2005.
|
|
|
|
|
|
[PubMed: 15543491]
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|
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|
|
[Full Text: https://doi.org/10.1086/426952]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Borikova, A. L., Dibble, C. F., Sciaky, N., Welch, C. M., Abell, A. N., Bencharit, S., Johnson, G. L.
|
|
<strong>Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype.</strong>
|
|
J. Biol. Chem. 285: 11760-11764, 2010.
|
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[PubMed: 20181950]
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[Full Text: https://doi.org/10.1074/jbc.C109.097220]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Boulday, G., Rudini, N., Maddaluno, L., Blecon, A., Arnould, M., Gaudric, A., Chapon, F., Adams, R. H., Dejana, E., Tournier-Lasserve, E.
|
|
<strong>Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.</strong>
|
|
J. Exp. Med. 208: 1835-1847, 2011.
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|
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|
|
[PubMed: 21859843]
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[Full Text: https://doi.org/10.1084/jem.20110571]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Liquori, C. L., Penco, S., Gault, J., Leedom, T. P., Tassi, L., Esposito, T., Awad, I. A., Frati, L., Johnson, E. W., Squitieri, F., Marchuk, D. A., Gianfrancesco, F.
|
|
<strong>Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.</strong>
|
|
Neurogenetics 9: 25-31, 2008.
|
|
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|
|
|
[PubMed: 18060436]
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[Full Text: https://doi.org/10.1007/s10048-007-0109-x]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Pagenstecher, A., Stahl, S., Sure, U., Felbor, U.
|
|
<strong>A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.</strong>
|
|
Hum. Molec. Genet. 18: 911-918, 2009.
|
|
|
|
|
|
[PubMed: 19088124]
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[Full Text: https://doi.org/10.1093/hmg/ddn420]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Verlaan, D. J., Roussel, J., Laurent, S. B., Elger, C. E., Siegel, A. M., Rouleau, G. A.
|
|
<strong>CCM3 mutations are uncommon in cerebral cavernous malformations.</strong>
|
|
Neurology 65: 1982-1983, 2005.
|
|
|
|
|
|
[PubMed: 16380626]
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|
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[Full Text: https://doi.org/10.1212/01.wnl.0000188903.75144.49]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Voss, K., Stahl, S., Schleider, E., Ullrich, S., Nickel, J., Mueller, T. D., Felbor, U.
|
|
<strong>CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.</strong>
|
|
Neurogenetics 8: 249-256, 2007.
|
|
|
|
|
|
[PubMed: 17657516]
|
|
|
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|
|
[Full Text: https://doi.org/10.1007/s10048-007-0098-9]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 1/11/2012<br>Patricia A. Hartz - updated : 1/5/2011<br>George E. Tiller - updated : 8/12/2009<br>Cassandra L. Kniffin - updated : 3/18/2008<br>Cassandra L. Kniffin - updated : 11/27/2007<br>Cassandra L. Kniffin - updated : 4/6/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<span class="mim-text-font">
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Victor A. McKusick : 12/17/2004
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carol : 03/10/2021<br>mgross : 01/20/2012<br>terry : 1/11/2012<br>mgross : 1/5/2011<br>mgross : 1/5/2011<br>wwang : 8/26/2009<br>terry : 8/12/2009<br>wwang : 4/15/2008<br>ckniffin : 3/18/2008<br>wwang : 12/3/2007<br>ckniffin : 11/27/2007<br>wwang : 4/12/2006<br>ckniffin : 4/6/2006<br>alopez : 12/17/2004
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