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Entry
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- *190040 - PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
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- OMIM
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</form>
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*190040</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/190040">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
|
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</h4>
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</div>
|
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000100311;t=ENST00000331163" 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=5155" 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=190040" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000100311;t=ENST00000331163" 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_002608,NM_033016,XM_047441393,XM_047441394" 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_002608" 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=190040" 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=01815&isoform_id=01815_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/PDGFB" 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/30247,35372,35375,129724,338199,338209,338211,553608,951025,1335307,1335308,1335309,1335310,1335311,1888419,2294400,2294425,4505681,15451786,20987439,38635916,47678607,49456571,50604127,51852346,55847584,77019377,77019401,111912111,119580709,119580710,119580711,119580712,262266287,308219398,2217339785,2217339787,2462584971,2462584973" 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/P01127" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5155" 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=ENSG00000100311;t=ENST00000331163" 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=PDGFB" 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=PDGFB" 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+5155" 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/PDGFB" 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:5155" 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/5155" 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=chr22&hgg_gene=ENST00000331163.11&hgg_start=39223359&hgg_end=39244982&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/pdgfb" 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=190040[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
|
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=190040[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/PDGFB/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/ENSG00000100311" 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=PDGFB" 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=PDGFB" 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=PDGFB" 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=PDGFB&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/PA33145" 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:8800" 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/FBgn0030964.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:97528" 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/PDGFB#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:97528" 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/5155/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=5155" 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=WBGene00004249;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-050208-525" 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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:5155" 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=PDGFB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
|
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ICD10CM:</strong> D32.9<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
190040
|
|
</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>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
|
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE<br />
|
|
PLATELET-DERIVED GROWTH FACTOR, B CHAIN<br />
|
|
PDGF, B CHAIN<br />
|
|
PDGF2<br />
|
|
ONCOGENE SIS<br />
|
|
SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SSV
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PDGFB/COL1A1 FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PDGFB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PDGFB</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/22/291?start=-3&limit=10&highlight=291">22q13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:39223359-39244982&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'})">22:39,223,359-39,244,982</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=615483,607174" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/291?start=-3&limit=10&highlight=291">
|
|
22q13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Basal ganglia calcification, idiopathic, 5
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615483"> 615483 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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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<p>Retroviruses have been identified as the etiologic agents of naturally occurring tumors in several animal species, including certain human T-cell leukemias and lymphomas. Some of the viruses rapidly induce tumors when inoculated into animals and can transform cells in vitro. The genomes of these viruses contain sequences, called viral onc genes, which are directly responsible for transformation both in vitro and in vivo. Evidence indicates that these onc genes originated from normal cellular genes by recombination between a parent nontransforming virus and host cellular DNA. Molecular hybridization indicates considerable evolutionary conservation of the cellular genes that give rise to viral transforming genes, suggesting that cellular onc genes may code for important functions in cell growth or tissue differentiation. <a href="#14" class="mim-tip-reference" title="Dalla-Favera, R., Gelmann, E. P., Gallo, R. C., Wong-Staal, F. <strong>A human onc gene homologous to the transforming gene (v-sis) of simian sarcoma virus.</strong> Nature 292: 31-35, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6268983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6268983</a>] [<a href="https://doi.org/10.1038/292031a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6268983">Dalla-Favera et al. (1981)</a> reported the detection, molecular cloning and genomic organization of the human onc gene (c-sis) related to the transforming gene (v-sis) of simian sarcoma virus (SSV) derived from the woolly monkey. The gene was cloned from the human DNA library of Maniatis. The protein product of the c-sis gene has not been identified. Many of the known transforming proteins are kinases that have the unusual property of phosphorylating tyrosine residues. Some are structurally and functionally similar to cellular protein kinases involved in the regulation of the Na-K-ATPase pump. In an addendum to another paper (<a href="#53" class="mim-tip-reference" title="Wong-Staal, F., Dalla-Favera, R., Franchini, G., Gelmann, E. P., Gallo, R. C. <strong>Three distinct genes in human DNA related to the transforming genes of mammalian sarcoma retroviruses.</strong> Science 213: 226-228, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6264598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6264598</a>] [<a href="https://doi.org/10.1126/science.6264598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6264598">Wong-Staal et al., 1981</a>), the same workers reported finding more than 1 allelic form of the c-sis locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6264598+6268983" 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="#17" class="mim-tip-reference" title="Doolittle, R. F., Hunkapiller, M. W., Hood, L. E., Devare, S. G., Robbins, K. C., Aaronson, S. A., Antoniades, H. N. <strong>Simian sarcoma virus onc gene, v-sis, is derived from the gene (or genes) encoding a platelet-derived growth factor.</strong> Science 221: 275-277, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6304883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6304883</a>] [<a href="https://doi.org/10.1126/science.6304883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6304883">Doolittle et al. (1983)</a> concluded that the SIS oncogene is the same as, or very closely related to, the gene for platelet-derived growth factor. The conclusion was based on the demonstration of extensive sequence similarity. <a href="#52" class="mim-tip-reference" title="Waterfield, M. D., Scrace, G. T., Whittle, N., Stroobant, P., Johnsson, A., Wasteson, A., Westermark, B., Heldin, C.-H., Huang, J. S., Deuel, T. F. <strong>Platelet-derived growth factor is structurally related to the putative transforming protein p28(sis) of simian sarcoma virus.</strong> Nature 304: 35-39, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6306471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6306471</a>] [<a href="https://doi.org/10.1038/304035a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6306471">Waterfield et al. (1983)</a> likewise pointed out the close structural similarity. PDGF is the major polypeptide mitogen in serum for cells of mesenchymal origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6306471+6304883" 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="#25" class="mim-tip-reference" title="Josephs, S. F., Guo, C., Ratner, L., Wong-Staal, F. <strong>Human proto-oncogene nucleotide sequences corresponding to the transforming region of simian sarcoma virus.</strong> Science 223: 487-491, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6318322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6318322</a>] [<a href="https://doi.org/10.1126/science.6318322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6318322">Josephs et al. (1984)</a> concluded that the SIS gene encodes 1 chain of human PDGF. PDGF has 2 dissimilar subunits, A and B. It is the B chain that has homology to SIS (<a href="#12" class="mim-tip-reference" title="Collins, T., Ginsburg, D., Boss, J. M., Orkin, S. H., Pober, J. S. <strong>Cultured human endothelial cells express platelet-derived growth factor B chain: cDNA cloning and structural analysis.</strong> Nature 316: 748-750, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4033772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4033772</a>] [<a href="https://doi.org/10.1038/316748a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4033772">Collins et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6318322+4033772" 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="#32" class="mim-tip-reference" title="Kelly, J. D., Raines, E. W., Ross, R., Murray, M. J. <strong>The B chain of PDGF alone is sufficient for mitogenesis.</strong> EMBO J. 4: 3399-3405, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004957</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1985.tb04096.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3004957">Kelly et al. (1985)</a> showed that the PDGF B chain alone is sufficient for mitogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3004957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Hermansson, M., Nister, M., Betsholtz, C., Heldin, C.-H., Westermark, B., Funa, K. <strong>Endothelial cell hyperplasia in human glioblastoma: coexpression of mRNA for platelet-derived growth factor (PDGF) B chain and PDGF receptor suggests autocrine growth stimulation.</strong> Proc. Nat. Acad. Sci. 85: 7748-7752, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2845420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2845420</a>] [<a href="https://doi.org/10.1073/pnas.85.20.7748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2845420">Hermansson et al. (1988)</a> presented evidence implicating an autocrine growth stimulation by PDGFB in the pathologic proliferation of endothelial cells characteristically found in glioblastomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2845420" 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>Most proliferating cells are programmed to undergo apoptosis unless specific survival signals are provided. Platelet-derived growth factor promotes cellular proliferation and inhibits apoptosis. <a href="#44" class="mim-tip-reference" title="Romashkova, J. A., Makarov, S. S. <strong>NF-kappa-B is a target of AKT in anti-apoptotic PDGF signalling.</strong> Nature 401: 86-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485711</a>] [<a href="https://doi.org/10.1038/43474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485711">Romashkova and Makarov (1999)</a> showed that PDGF activates the RAS/PIK3/AKT1/IKK/NFKB1 pathway. In this pathway, NFKB1 (<a href="/entry/164011">164011</a>) does not induce c-myc and apoptosis, but instead induces putative antiapoptotic genes. In response to PDGF, AKT1 (<a href="/entry/164730">164730</a>) transiently associates with IKK (see <a href="/entry/600664">600664</a>) and induces IKK activation. The authors suggested that under certain conditions PIK3 (see <a href="/entry/171834">171834</a>) may activate NFKB1 without the involvement of NFKBIA (<a href="/entry/164008">164008</a>) or NFKBIB (<a href="/entry/604495">604495</a>) degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Choi, M. H., Lee, I. K., Kim, G. W., Kim, B. U., Han, Y.-H., Yu, D.-Y., Park, H. S., Kim, K. Y., Lee, J. S., Choi, C., Bae, Y. S., Lee, B. I., Rhee, S. G., Kang, S. W. <strong>Regulation of PDGF signalling and vascular remodelling by peroxiredoxin II.</strong> Nature 435: 347-353, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902258</a>] [<a href="https://doi.org/10.1038/nature03587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15902258">Choi et al. (2005)</a> demonstrated that PRDX2 (<a href="/entry/600538">600538</a>) is a negative regulator of PDGF signaling. Peroxiredoxin type II (Prx II) deficiency results in increased production of peroxide, enhanced activation of PDGF receptor (PDGFR; see <a href="/entry/173490">173490</a>) and phospholipase C-gamma-1 (<a href="/entry/172420">172420</a>), and subsequently increased cell proliferation and migration in response to PDGF. These responses are suppressed by expression of wildtype Prx II, but not an inactive mutant. Notably, Prx II is recruited to PDGFR upon PDGF stimulation, and suppresses protein tyrosine phosphatase inactivation. Prx II also leads to the suppression of PDGFR activation in primary culture and in a murine restenosis model, including PDGF-dependent neointimal thickening of vascular smooth muscle cells. <a href="#9" class="mim-tip-reference" title="Choi, M. H., Lee, I. K., Kim, G. W., Kim, B. U., Han, Y.-H., Yu, D.-Y., Park, H. S., Kim, K. Y., Lee, J. S., Choi, C., Bae, Y. S., Lee, B. I., Rhee, S. G., Kang, S. W. <strong>Regulation of PDGF signalling and vascular remodelling by peroxiredoxin II.</strong> Nature 435: 347-353, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902258</a>] [<a href="https://doi.org/10.1038/nature03587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15902258">Choi et al. (2005)</a> concluded that their results demonstrate a localized role for endogenous peroxide in PDGF signaling, and indicate a biologic function for Prx II in cardiovascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15902258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Kratchmarova, I., Blagoev, B., Haack-Sorensen, M., Kassem, M., Mann, M. <strong>Mechanism of divergent growth factor effects in mesenchymal stem cell differentiation.</strong> Science 308: 1472-1477, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933201</a>] [<a href="https://doi.org/10.1126/science.1107627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933201">Kratchmarova et al. (2005)</a> found that the differentiation of human mesenchymal stem cells into bone-forming cells is stimulated by epidermal growth factor (EGF; <a href="/entry/131530">131530</a>) but not PDGF. They used mass spectrometry-based proteomics to comprehensively compare proteins that were tyrosine-phosphorylated in response to EGF and PDGF and their associated partners. More than 90% of these signaling proteins were used by both ligands, whereas the phosphatidylinositol 3-kinase pathway was exclusively activated by PDGF, implicating it as a possible control point. Indeed, chemical inhibition of phosphatidylinositol 3-kinase (see <a href="/entry/603157">603157</a>) in PDGF-stimulated cells removed the differential effect of the 2 growth factors, bestowing full differentiation effect onto PDGF. <a href="#36" class="mim-tip-reference" title="Kratchmarova, I., Blagoev, B., Haack-Sorensen, M., Kassem, M., Mann, M. <strong>Mechanism of divergent growth factor effects in mesenchymal stem cell differentiation.</strong> Science 308: 1472-1477, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933201</a>] [<a href="https://doi.org/10.1126/science.1107627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933201">Kratchmarova et al. (2005)</a> concluded that their study shows that quantitative proteomics can directly compare entire signaling networks and discover critical differences capable of changing cell fate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15933201" 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>During the development of atherosclerotic plaques, vascular smooth muscle cells change from the physiologic contractile phenotype to the pathophysiologic synthetic phenotype. They then migrate into the intima where they proliferate and produce extracellular matrix. <a href="#8" class="mim-tip-reference" title="Chen, C.-N., Li, Y.-S. J., Yeh, Y.-T., Lee, P.-L., Usami, S., Chien, S., Chiu, J.-J. <strong>Synergistic roles of platelet-derived growth factor-BB and interleukin-1-beta in phenotypic modulation of human aortic smooth muscle cells.</strong> Proc. Nat. Acad. Sci. 103: 2665-2670, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16477012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16477012</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16477012[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0510973103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16477012">Chen et al. (2006)</a> found that PDGFB and IL1B (<a href="/entry/147720">147720</a>) cooperate in inducing contractile-to-synthetic phenotype modulation of human aortic smooth muscle cells in culture. Phenotypic modulation by PDGFB and IL1B involved crosstalk between their corresponding receptors PDGFRB (<a href="/entry/173410">173410</a>) and IL1R1 (<a href="/entry/147810">147810</a>) and was mediated through the PI3K (see <a href="/entry/171834">171834</a>)/AKT (see <a href="/entry/164730">164730</a>)/P70S6K (<a href="/entry/608938">608938</a>) signaling pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16477012" 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="#10" class="mim-tip-reference" title="Chojnacki, A., Kelly, J. J. P., Hader, W., Weiss, S. <strong>Distinctions between fetal and adult human platelet-derived growth factor-responsive neural precursors.</strong> Ann. Neurol. 64: 127-142, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18756507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18756507</a>] [<a href="https://doi.org/10.1002/ana.21421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18756507">Chojnacki et al. (2008)</a> found that PDGF stimulated fetal human PDGF-responsive neural precursor cells (PRPs) to generate neurospheres that differentiated primarily into oligodendrocytes, which acquired myelin basic protein (<a href="/entry/159430">159430</a>) expression, as well as neurons and a small number of astrocytes. Together with PDGF, FGF2 (<a href="/entry/134920">134920</a>) promoted fetal human PRP expansion and self-renewal. In contrast, adult human PRPs isolated from the corpus callosum required twice the culture period to generate neurospheres, which contained oligodendrocytes, as well as astrocytes, but not neurons. FGF2 did not promote adult human PRP self-renewal. <a href="#10" class="mim-tip-reference" title="Chojnacki, A., Kelly, J. J. P., Hader, W., Weiss, S. <strong>Distinctions between fetal and adult human platelet-derived growth factor-responsive neural precursors.</strong> Ann. Neurol. 64: 127-142, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18756507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18756507</a>] [<a href="https://doi.org/10.1002/ana.21421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18756507">Chojnacki et al. (2008)</a> concluded that differences in the intrinsic proliferation, phenotype, and self-renewal properties of fetal and adult human PRPs indicate that they are distinct populations, which may result in distinct myelin-production capabilities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18756507" 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 a cultured bovine retinal pericyte model, <a href="#19" class="mim-tip-reference" title="Geraldes, P., Hiraoka-Yamamoto, J., Matsumoto, M., Clermont, A., Leitges, M., Marette, A., Aiello, L. P., Kern, T. S., King, G. L. <strong>Activation of PKC-delta and SHP-1 by hyperglycemia causes vascular cell apoptosis and diabetic retinopathy.</strong> Nature Med. 15: 1298-1306, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19881493[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881493">Geraldes et al. (2009)</a> demonstrated that hyperglycemia persistently activates PRKCD (<a href="/entry/176977">176977</a>) and MAPK14, thus increasing expression of SHP1 (PTPN6; <a href="/entry/176883">176883</a>), and that this occurs independently of NFKB activation. This signaling cascade leads to PDGFRB dephosphorylation and a reduction in downstream signaling from this receptor, resulting in pericyte apoptosis, the most specific vascular histopathology associated with diabetic complications (see <a href="/entry/603933">603933</a>). The authors observed increased PRKCD activity and an increase in the number of acellular capillaries in diabetic mouse retinas, which were not reversible with insulin treatment that achieved normoglycemia. Unlike diabetic age-matched wildtype mice, diabetic Prkcd -/- mice did not show activation of MAPK14 or SHP1, inhibition of PDGFB signaling in vascular cells, or the presence of acellular capillaries. The authors also observed PRKCD, MAPK14, and SHP1 activation in brain pericytes and in the renal cortex of diabetic mice. <a href="#19" class="mim-tip-reference" title="Geraldes, P., Hiraoka-Yamamoto, J., Matsumoto, M., Clermont, A., Leitges, M., Marette, A., Aiello, L. P., Kern, T. S., King, G. L. <strong>Activation of PKC-delta and SHP-1 by hyperglycemia causes vascular cell apoptosis and diabetic retinopathy.</strong> Nature Med. 15: 1298-1306, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19881493[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881493">Geraldes et al. (2009)</a> concluded that this represents a new signaling pathway by which hyperglycemia can induce PDGFB resistance and increased vascular cell apoptosis to cause diabetic vascular complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881493" 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 Western blot, immunofluorescence, and confocal microscopy analyses, <a href="#7" class="mim-tip-reference" title="Charbonneau, M., Lavoie, R. R., Lauzier, A., Harper, K., McDonald, P. P., Dubois, C. M. <strong>Platelet-derived growth factor receptor activation promotes the prodestructive invadosome-forming phenotype of synoviocytes from patients with rheumatoid arthritis.</strong> J. Immun. 196: 3264-3275, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26976956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26976956</a>] [<a href="https://doi.org/10.4049/jimmunol.1500502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26976956">Charbonneau et al. (2016)</a> demonstrated that the receptor tyrosine kinase PDGFR was specifically upregulated in rheumatoid arthritis (RA; <a href="/entry/180300">180300</a>) synoviocytes and synovial tissues. PDGFR activation involved TGFB-induced upregulation of PDGFB mediated by the TGFBR1 (<a href="/entry/190181">190181</a>)/SMAD (see <a href="/entry/601366">601366</a>) and PI3K/AKT pathways. <a href="#7" class="mim-tip-reference" title="Charbonneau, M., Lavoie, R. R., Lauzier, A., Harper, K., McDonald, P. P., Dubois, C. M. <strong>Platelet-derived growth factor receptor activation promotes the prodestructive invadosome-forming phenotype of synoviocytes from patients with rheumatoid arthritis.</strong> J. Immun. 196: 3264-3275, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26976956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26976956</a>] [<a href="https://doi.org/10.4049/jimmunol.1500502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26976956">Charbonneau et al. (2016)</a> proposed that an overreactive TGFB/PDGFB/PDGFR pathway is involved in synoviocyte-driven extracellular matrix degradation in RA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26976956" 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="#14" class="mim-tip-reference" title="Dalla-Favera, R., Gelmann, E. P., Gallo, R. C., Wong-Staal, F. <strong>A human onc gene homologous to the transforming gene (v-sis) of simian sarcoma virus.</strong> Nature 292: 31-35, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6268983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6268983</a>] [<a href="https://doi.org/10.1038/292031a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6268983">Dalla-Favera et al. (1981)</a> determined that the SIS gene extends over a region of about 12 kb, which includes 1.2 kb of v-sis-related sequences interrupted by 4 intervening sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6268983" 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>Studies of hybrids between thymidine kinase-deficient mouse cells and human fibroblasts carrying a 22/17 translocation showed that the sis gene is in the region 22q11-qter (<a href="#13" class="mim-tip-reference" title="Dalla-Favera, R., Gallo, R. C., Giallongo, A., Croce, C. <strong>Chromosomal localization of the human homolog (c-sis) of the simian sarcoma virus onc gene.</strong> Science 218: 686-688, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6291150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6291150</a>] [<a href="https://doi.org/10.1126/science.6291150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6291150">Dalla-Favera et al., 1982</a>). <a href="#49" class="mim-tip-reference" title="Swan, D. C., McBride, O. W., Robbins, K. C., Keithley, D. A., Reddy, E. P., Aaronson, S. A. <strong>Chromosomal mapping of the simian sarcoma virus onc gene analogue in human cells.</strong> Proc. Nat. Acad. Sci. 79: 4691-4695, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6289313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6289313</a>] [<a href="https://doi.org/10.1073/pnas.79.15.4691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6289313">Swan et al. (1982)</a> also mapped c-sis to chromosome 22 by somatic cell hybridization. They pointed out that the simian sarcoma virus was the only known transforming retrovirus of primate origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6291150+6289313" 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>On germline chromosomes by in situ hybridization, <a href="#23" class="mim-tip-reference" title="Jhanwar, S. C., Neel, B. G., Hayward, W. S., Chaganti, R. S. K. <strong>Localization of the cellular oncogenes ABL, SIS, and FES on human germ-line chromosomes.</strong> Cytogenet. Cell Genet. 38: 73-75, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6323103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6323103</a>] [<a href="https://doi.org/10.1159/000132033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6323103">Jhanwar et al. (1984)</a> assigned SIS to 22q13.1, a site distal to the breakpoint involved in formation of the Philadelphia chromosome, 22q11. <a href="#27" class="mim-tip-reference" title="Julier, C., Lathrop, M., Lalouel, J. M., Kaplan, J. C. <strong>Use of multilocus tests of gene order: example for chromosome 22. (Abstract)</strong> Cytogenet. Cell Genet. 40: 663-664, 1985."None>Julier et al. (1985)</a> concluded from multilocus linkage tests that the oncogene SIS locus is most likely distal to MB and that both are distal to IGL. The following tentative map was derived: cen--IGL--0.10--D22S1--0.20--MB--0.07--(SIS, P1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6323103" 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 the mouse SIS maps to chromosome 15 (<a href="#35" class="mim-tip-reference" title="Kozak, C. A., Sears, J. F., Hoggan, M. D. <strong>Genetic mapping of the mouse proto-oncogene c-sis to chromosome 15.</strong> Science 221: 867-869, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308764</a>] [<a href="https://doi.org/10.1126/science.6308764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308764">Kozak et al., 1983</a>), which shows other evidence of homology of synteny to human chromosome 22--diaphorase-1 (<a href="/entry/613213">613213</a>) and arylsulfatase A (<a href="/entry/607574">607574</a>) are on MM15 and HSA22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6308764" 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>Chromosomal translocations involving 22q12 have been found in most cases of Ewing sarcoma (<a href="/entry/612219">612219</a>) (<a href="#1" class="mim-tip-reference" title="Aurias, A., Rimbaut, C., Buffe, D., Dubousset, J., Mazabraud, A. <strong>Chromosomal translocations in Ewing's sarcoma. (Letter)</strong> New Eng. J. Med. 309: 496-497, 1983."None>Aurias et al., 1983</a>; <a href="#50" class="mim-tip-reference" title="Turc-Carel, C., Philip, I., Berger, M. P., Philip, T., Lenoir, G. M. <strong>Chromosomal translocations in Ewing's sarcoma. (Letter)</strong> New Eng. J. Med. 309: 497-498, 1983."None>Turc-Carel et al., 1983</a>). <a href="#3" class="mim-tip-reference" title="Bechet, J.-M., Bornkamm, G., Freese, U.-K., Lenoir, G. M. <strong>The c-sis oncogene is not activated in Ewing's sarcoma. (Letter)</strong> New Eng. J. Med. 310: 393 only, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6690975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6690975</a>] [<a href="https://doi.org/10.1056/NEJM198402093100618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6690975">Bechet et al. (1984)</a> showed that the SIS oncogene is not activated in Ewing sarcoma. By in situ hybridization, <a href="#2" class="mim-tip-reference" title="Bartram, C. R., de Klein, A., Hagemeijer, A., Grosveld, G., Heisterkamp, N., Groffen, J. <strong>Localization of the human c-sis oncogene in Ph-1-positive and Ph-1-negative chronic myelocytic leukemia by in situ hybridization.</strong> Blood 63: 223-225, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6336312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6336312</a>]" pmid="6336312">Bartram et al. (1984)</a> concluded that SIS is located in the region 22q12.3-22q13.1, far from the breakpoint 22q11 of CML (<a href="/entry/608232">608232</a>), and that SIS segregates with the translocated part of chromosome 22 to various chromosomes in Ph1-positive cases of CML but remains on chromosome 22 in Ph1-negative cases. Thus, SIS is probably not involved in the malignant process. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6336312+6690975" 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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Dermatofibrosarcoma protuberans (DFSP; <a href="/entry/607907">607907</a>), an infiltrative skin tumor of intermediate malignancy, presents specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22). <a href="#47" class="mim-tip-reference" title="Simon, M.-P., Pedeutour, F., Sirvent, N., Grosgeorge, J., Minoletti, F., Coindre, J.-M., Terrier-Lacombe, M.-J., Mandahl, N., Craver, R. D., Blin, N., Sozzi, G., Turc-Carel, C., O'Brien, K. P., Kedra, D., Fransson, I., Guilbaud, C., Dumanski, J. P. <strong>Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.</strong> Nature Genet. 15: 95-98, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988177</a>] [<a href="https://doi.org/10.1038/ng0197-95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988177">Simon et al. (1997)</a> characterized the breakpoints from translocations and rings in dermatofibrosarcoma protuberans and its juvenile form, giant cell fibroblastoma, on the genomic and RNA levels. They found that these rearrangements fuse the PDGFB gene and the COL1A1 gene (<a href="/entry/120150">120150</a>). <a href="#47" class="mim-tip-reference" title="Simon, M.-P., Pedeutour, F., Sirvent, N., Grosgeorge, J., Minoletti, F., Coindre, J.-M., Terrier-Lacombe, M.-J., Mandahl, N., Craver, R. D., Blin, N., Sozzi, G., Turc-Carel, C., O'Brien, K. P., Kedra, D., Fransson, I., Guilbaud, C., Dumanski, J. P. <strong>Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.</strong> Nature Genet. 15: 95-98, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988177</a>] [<a href="https://doi.org/10.1038/ng0197-95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988177">Simon et al. (1997)</a> commented that PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes was not fully understood. They noted that neither COL1A1 nor PDGFB had hitherto been implicated in tumor translocations. The gene fusions deleted exon 1 of PDGFB and released this growth factor from its normal regulation; see <a href="#0002">190040.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988177" 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="#39" class="mim-tip-reference" title="Nakanishi, G., Lin, S.-N., Asagoe, K., Suzuki, N., Matsuo, A., Tanaka, R., Makino, E., Fukimoto, W., Iwatsuki, K. <strong>A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans.</strong> Europ. J. Derm. 17: 217-219, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17478383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17478383</a>] [<a href="https://doi.org/10.1684/ejd.2007.0151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17478383">Nakanishi et al. (2007)</a> used RT-PCR to examine the COL1A1/PDGFB transcript using frozen biopsy specimens from 3 unrelated patients with DFSP and identified fusion of COL1A1 exon 25, exon 31, and exon 46, respectively, to exon 2 of the PDGFB gene. Clinical features and histopathology did not demonstrate any specific characteristics associated with the different transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17478383" 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><strong><em>Meningioma</em></strong>
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<p>In a family in which 4 persons developed meningiomas (<a href="/entry/607174">607174</a>) at a median age about 10 years younger than that found for meningioma patients in the general population, as reported by <a href="#5" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosomal translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a>, <a href="#48" class="mim-tip-reference" title="Smidt, M., Kirsch, I., Ratner, L. <strong>Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.</strong> J. Clin. Invest. 86: 1151-1157, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2212004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2212004</a>] [<a href="https://doi.org/10.1172/JCI114820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2212004">Smidt et al. (1990)</a> identified a deletion in the fifth intron of the PDGFB (SIS) gene (<a href="#0001">190040.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3969118+2212004" 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><strong><em>Idiopathic Basal Ganglia Calcification 5</em></strong>
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<p><a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified 6 different heterozygous putative loss-of-function mutations in the PDGFB gene (see, e.g., <a href="#0003">190040.0003</a>-<a href="#0007">190040.0007</a>) in 6 (18.8%) of 13 families with idiopathic basal ganglia calcification-5 (IBGC5; <a href="/entry/615483">615483</a>). The phenotype was characterized by progressive neurologic symptoms and associated with brain calcification mainly affecting the basal ganglia, although some patients had more extensive calcification affecting the thalamus, cerebellum, or white matter. Symptoms included motor disturbances, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients were asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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="mim-changed mim-change"><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, <a href="#21" class="mim-tip-reference" title="Hayashi, T., Legati, A., Nishikawa, T., Coppola, G. <strong>First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.</strong> Psychiat. Clin. Neurosci. 69: 77-83, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25211641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25211641</a>] [<a href="https://doi.org/10.1111/pcn.12238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25211641">Hayashi et al. (2015)</a> identified heterozygosity for one of the mutations in the PDGFB gene (R149X; <a href="#0006">190040.0006</a>) that was previously reported by <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a>. The mutation was found by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23913003+25211641" 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></div>
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<div class="mim-changed mim-change"><p>In 4 members of a family with IBGC5, <a href="#33" class="mim-tip-reference" title="Keogh, M. J., Pyle, A., Daud, D., Griffin, H., Douroudis, K., Eglon, G., Miller, J., Horvath, R., Chinnery, P. F. <strong>Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.</strong> Neurology 84: 1818-1820, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25832657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25832657</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25832657">Keogh et al. (2015)</a> identified a heterozygous missense mutation (c.3657C-T, P122L) in the PDGFB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25832657" 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></div>
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<div class="mim-changed mim-change"><p>In 2 Swedish families with IBGC5, <a href="#54" class="mim-tip-reference" title="Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A. <strong>Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.</strong> Neurol. Neurochir. Pol. 58: 94-105, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38156729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38156729</a>] [<a href="https://doi.org/10.5603/pjnns.97716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38156729">Yektay Farahmand et al. (2024)</a> identified heterozygous nonsense mutations in the PDGFB gene: Q140X (c.418C-T, NM_002608.4) in family A and R191X (c.571C-T, NM_002608.4) in family B. The mutations were found by whole-exome or whole-genome sequencing, followed by targeted investigation of all known genes related to IBGC. Sanger sequencing confirmed segregation of the mutation with disease in the families. The variants were not present in gnomAD (v2.1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38156729" 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></div>
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<p>Disruption of the Pdgfb gene or the gene for its receptor in mice leads to the development of lethal hemorrhage and edema in late embryogenesis and absence of kidney glomerular mesangial cells. <a href="#38" class="mim-tip-reference" title="Lindahl, P., Johansson, B. R., Leveen, P., Betsholtz, C. <strong>Pericyte loss and microaneurysm formation in PDGF-B-deficient mice.</strong> Science 277: 242-245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9211853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9211853</a>] [<a href="https://doi.org/10.1126/science.277.5323.242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9211853">Lindahl et al. (1997)</a> found that mouse embryos deficient in Pdgfb lack microvascular pericytes, which normally form part of the capillary wall, and develop numerous capillary microaneurysms that rupture at late gestation. Endothelial cells of the sprouting capillaries in mutant mice appeared to be unable to attract PDGF-receptor-beta-positive pericyte progenitor cells. Pericytes may contribute to the mechanical stability of the capillary wall. Comparisons made between PDGF-null mouse phenotypes suggested a general role for PDGFs in the development of myofibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9211853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By targeting Pdgfb ablation to the endothelium, <a href="#18" class="mim-tip-reference" title="Enge, M., Bjarnegard, M., Gerhardt, H., Gustafsson, E., Kalen, M., Asker, N., Hammes, H.-P., Shani, M., Fassler, R., Betsholtz, C. <strong>Endothelium-specific platelet-derived growth factor-B ablation mimics diabetic retinopathy.</strong> EMBO J. 21: 4307-4316, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12169633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12169633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12169633[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/emboj/cdf418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12169633">Enge et al. (2002)</a> created viable mice with extensive inter- and intra-individual variation in the density of pericytes throughout the central nervous system. They found a strong inverse correlation between pericyte density and the formation of a range of retinal microvascular abnormalities reminiscent of those seen in diabetic humans. Proliferative retinopathy invariably developed when pericyte density was less than 50% of normal. Since a reduction of pericyte density was sufficient to cause retinopathy in mice, <a href="#18" class="mim-tip-reference" title="Enge, M., Bjarnegard, M., Gerhardt, H., Gustafsson, E., Kalen, M., Asker, N., Hammes, H.-P., Shani, M., Fassler, R., Betsholtz, C. <strong>Endothelium-specific platelet-derived growth factor-B ablation mimics diabetic retinopathy.</strong> EMBO J. 21: 4307-4316, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12169633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12169633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12169633[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/emboj/cdf418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12169633">Enge et al. (2002)</a> hypothesized that pericyte loss may also lead to human diabetic retinopathy (see <a href="/entry/603933">603933</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12169633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Cao, R., Brakenhielm, E., Pawliuk, R., Wariaro, D., Post, M. J., Wahlberg, E., Leboulch, P., Cao, Y. <strong>Angiogenic synergism, vascular stability and improvement of hind-limb ischemia by a combination of PDGF-BB and FGF-2.</strong> Nature Med. 9: 604-613, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12669032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12669032</a>] [<a href="https://doi.org/10.1038/nm848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12669032">Cao et al. (2003)</a> reported that a combination of 2 angiogenic factors, PDGF-BB and FGF2 (<a href="/entry/134920">134920</a>), synergistically induces vascular networks, which remain stable for more than a year even after depletion of angiogenic factors. In both rat and rabbit ischemic hindlimb models, PDGF-BB and FGF2 together markedly stimulated collateral arteriogenesis after ligation of the femoral artery, with a significant increase in vascularization and improvement in paw blood flow. A possible mechanism of angiogenic synergism between PDGF-BB and FGF2 involves upregulation of the expression of PDGF receptor-alpha (PDGFRA; <a href="/entry/173490">173490</a>) and PDGF receptor-beta (PDGFRB; <a href="/entry/173410">173410</a>) by FGF2 in newly formed blood vessels. <a href="#6" class="mim-tip-reference" title="Cao, R., Brakenhielm, E., Pawliuk, R., Wariaro, D., Post, M. J., Wahlberg, E., Leboulch, P., Cao, Y. <strong>Angiogenic synergism, vascular stability and improvement of hind-limb ischemia by a combination of PDGF-BB and FGF-2.</strong> Nature Med. 9: 604-613, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12669032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12669032</a>] [<a href="https://doi.org/10.1038/nm848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12669032">Cao et al. (2003)</a> showed that single angiogenic factors, including FGF2, VEGF (<a href="/entry/192240">192240</a>), and PDGF-BB, were unable to establish stable vascular networks. In contrast, a combination of PDGF-BB and FGF2, but not PDGF-BB and VEGF or VEGF and FGF2, synergistically induced angiogenesis and long-lasting functional vessels. While each of the angiogenic factors FGF2, VEGF and PDGF-BB is able to stimulate angiogenesis in the short term, none of these factors alone is able to maintain these newly formed vessels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12669032" 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="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> found that 4-month-old mice homozygous for a hypomorphic Pdgfb allele developed clusters of calcified nodules in the midbrain and thalamus. At age 1 year, mutant mice had more extensive calcification involving the basal forebrain, midbrain, and pons. The lesions were punctate and composed of calcium phosphate. Transgenic reexpression of 2 copies of wildtype endothelial Pdgfb in Pdgfb-null mice prevented the development of brain calcification, whereas reexpression of 1 copy of the rescue allele did not prevent calcification. The findings suggested that it is endothelial Pdgfb, rather than neuronal Pdgfb, that drives the pathology. <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> postulated that the brain calcification may result from defects in pericytes and the blood-brain barrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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="mim-changed mim-change"><p>Using in vivo imaging techniques, <a href="#51" class="mim-tip-reference" title="Wang, J., Fang, C. L., Noller, K., Wei, Z., Liu, G., Shen, K., Song, K., Cao, X., Wan, M. <strong>Bone-derived PDGF-BB drives brain vascular calcification in male mice.</strong> J. Clin. Invest. 133: e168447, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37815871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37815871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37815871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI168447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37815871">Wang et al. (2023)</a> showed that brain vessel-associated calcifications developed in male mice during natural aging and that the lesions occurred primarily in a specific subthalamic region. Aged male mice displayed dramatically increased serum Pdgfb compared with young males, whereas aged and young females showed no difference in serum Pdgfb. Transgenic mice with preosteoclast-specific Pdgfb overexpression exhibited elevated serum Pdgfb levels and recapitulated age-associated thalamic calcification. In contrast, normalization of circulating Pdgfb through preosteoclast-specific Pdgfb deletion abolished age-associated brain calcification. Recombinant Pdgfb induced brain vessel calcification and activated the osteogenic program in an ex vivo cerebrovascular culture system. Gene array and single cell RNA-sequencing analyses revealed that Pdgfb upregulated multiple osteogenic differentiation genes and the phosphate transporter Slc20a1 (<a href="/entry/137570">137570</a>) in cerebral microvessels. Mechanistically, Pdgfb stimulated phosphorylation of its receptor, Pdgfr-beta, and Erk (see <a href="/entry/601795">601795</a>), leading to activation of Runx2 (<a href="/entry/600211">600211</a>). Activation of Runx2, in turn, induced transcription of osteoblast differentiation genes in vessel pericytes and upregulated Slc20a1 in astrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37815871" 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></div>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/190040" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=190040[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 MENINGIOMA</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013429" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013429" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013429</a>
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<p>In a family in which 4 persons developed meningiomas (<a href="/entry/607174">607174</a>) at a median age about 10 years younger than that found for meningioma patients in the general population, as reported by <a href="#5" class="mim-tip-reference" title="Bolger, G. B., Stamberg, J., Kirsch, I. R., Hollis, G. F., Schwarz, D. F., Thomas, G. H. <strong>Chromosomal translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.</strong> New Eng. J. Med. 312: 564-567, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3969118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3969118</a>] [<a href="https://doi.org/10.1056/NEJM198502283120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3969118">Bolger et al. (1985)</a>, <a href="#48" class="mim-tip-reference" title="Smidt, M., Kirsch, I., Ratner, L. <strong>Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.</strong> J. Clin. Invest. 86: 1151-1157, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2212004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2212004</a>] [<a href="https://doi.org/10.1172/JCI114820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2212004">Smidt et al. (1990)</a> identified a deletion in the fifth intron of the SIS gene. Normally the SIS gene has an Alu sequence in this region which includes 2 perfect 130-nucleotide repeated sequences, separated by 5 bp. The deleted allele was missing 1 copy of the 130-bp repeat and the intervening 5 bp. An identical deletion was also found in DNA from 1 of 13 sporadic meningiomas. Whether the deletion inactivates the SIS allele, in analogy to the loss of function of suppressor genes in the development of retinoblastoma and Wilms tumor, or activates the expression of the SIS gene is not clear. A point mutation in the fourth intron of the HRAS gene (<a href="/entry/190020">190020</a>) is associated with overexpression (<a href="#11" class="mim-tip-reference" title="Cohen, J. B., Levinson, A. D. <strong>A point mutation in the last intron responsible for increased expression and transforming activity of the c-Ha-ras oncogene.</strong> Nature 334: 119-124, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3133569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3133569</a>] [<a href="https://doi.org/10.1038/334119a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3133569">Cohen and Levinson, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3969118+3133569+2212004" 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>.0002 DERMATOFIBROSARCOMA PROTUBERANS, SOMATIC</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000074299" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074299" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074299</a>
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<p><a href="#47" class="mim-tip-reference" title="Simon, M.-P., Pedeutour, F., Sirvent, N., Grosgeorge, J., Minoletti, F., Coindre, J.-M., Terrier-Lacombe, M.-J., Mandahl, N., Craver, R. D., Blin, N., Sozzi, G., Turc-Carel, C., O'Brien, K. P., Kedra, D., Fransson, I., Guilbaud, C., Dumanski, J. P. <strong>Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.</strong> Nature Genet. 15: 95-98, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988177</a>] [<a href="https://doi.org/10.1038/ng0197-95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988177">Simon et al. (1997)</a> demonstrated a fusion between intron 43 of the type I collagen (COL1A1; <a href="/entry/120150">120150</a>) gene and intron 1 of the platelet-derived growth factor-beta gene that resulted in dermatofibrosarcoma protuberans (DFSP; <a href="/entry/607907">607907</a>). The fusion process deleted exon 1 of PDGFB and released its growth factor from normal regulation. Normally, PDGFB is believed to reach the cell surface in order to generate an autocrine growth signal. In the case of a putative chimeric COL1A1/PDGFB protein, COL1A1 would provide the signal peptide, which is a prerequisite for export of the protein. <a href="#47" class="mim-tip-reference" title="Simon, M.-P., Pedeutour, F., Sirvent, N., Grosgeorge, J., Minoletti, F., Coindre, J.-M., Terrier-Lacombe, M.-J., Mandahl, N., Craver, R. D., Blin, N., Sozzi, G., Turc-Carel, C., O'Brien, K. P., Kedra, D., Fransson, I., Guilbaud, C., Dumanski, J. P. <strong>Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.</strong> Nature Genet. 15: 95-98, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988177</a>] [<a href="https://doi.org/10.1038/ng0197-95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988177">Simon et al. (1997)</a> showed breaks in 4 different regions of the COL1A1 gene in the 5 tumors studied, indicating that the COL1A1 contribution to the putative chimeric protein may be accessory and less likely to be crucial for potential growth factor activity. Normally PDGFB is processed by N- and C-terminal peptidases into a mature growth factor. The domains that are recognized by these enzymes are present in the putative chimeric COL1A1/PDGFB protein, as they are encoded by PDGFB exon 3 and exon 6, respectively. This suggested that the proteolytic processing of the putative chimeric COL1A1/PDGFB protein may occur as for the normal PDGFB. <a href="#45" class="mim-tip-reference" title="Shimizu, A., O'Brien, K. P., Sjoblom, T., Pietras, K., Buchdunger, E., Collins, V. P., Heldin, C.-H., Dumanski, J. P., Ostman, A. <strong>The dermatofibrosarcoma protuberans-associated collagen type I-alpha-1/platelet-derived growth factor (PDGF) beta-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.</strong> Cancer Res. 59: 3719-3723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446987</a>]" pmid="10446987">Shimizu et al. (1999)</a> concluded that the COL1A1/PDGFB fusion gene associated with DFSP contributes to tumor formation through ectopic production of PDGF-BB, the homodimer formed by disulfide-linking, and the formation of an autocrine loop. Their findings thus suggested that PDGF receptors could be a target for pharmacologic treatment of DFSP and giant cell fibroblastoma, through the use of PDGF receptor kinase inhibitors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8988177+10446987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To characterize the functional and structural properties of the COL1A1/PDGFB fusion protein, <a href="#45" class="mim-tip-reference" title="Shimizu, A., O'Brien, K. P., Sjoblom, T., Pietras, K., Buchdunger, E., Collins, V. P., Heldin, C.-H., Dumanski, J. P., Ostman, A. <strong>The dermatofibrosarcoma protuberans-associated collagen type I-alpha-1/platelet-derived growth factor (PDGF) beta-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.</strong> Cancer Res. 59: 3719-3723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446987</a>]" pmid="10446987">Shimizu et al. (1999)</a> generated a stable NIH 3T3 cell line that contained a tumor-derived chimeric gene resulting from a COL1A1 intron-7/PDGFB intron-1 fusion. Expression of the fusion protein led to morphologic transformation and increased growth rate of these cells. A PDGF receptor kinase inhibitor reversed the transformed phenotype and reduced the growth rate of the cells expressing the fusion protein but had no effect on control cells. The presence of dimeric fusion protein precursors was demonstrated through PDGFB immunoprecipitation of metabolically labeled cells and also by PDGFB immunoprecipitation followed by immunoblotting with COL1A1 antibodies. Pulse-chase studies demonstrated that the COL1A1/PDGFB precursor was processed to an end product that was indistinguishable from wildtype PDGF-BB, the homodimer formed by disulfide linking. Finally, COL1A1/PDGFB-expressing cells generated tumors after subcutaneous injection into nude mice, and tumor growth was reduced by treatment with the PDGF receptor kinase inhibitor. <a href="#45" class="mim-tip-reference" title="Shimizu, A., O'Brien, K. P., Sjoblom, T., Pietras, K., Buchdunger, E., Collins, V. P., Heldin, C.-H., Dumanski, J. P., Ostman, A. <strong>The dermatofibrosarcoma protuberans-associated collagen type I-alpha-1/platelet-derived growth factor (PDGF) beta-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.</strong> Cancer Res. 59: 3719-3723, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446987</a>]" pmid="10446987">Shimizu et al. (1999)</a> concluded that the COL1A1/PDGFB fusion gene associated with DFSP contributes to tumor formation through ectopic production of PDGF-BB and the formation of an autocrine loop. Their findings thus suggested that PDGF receptors could be a target for pharmacologic treatment of DFSP and giant cell fibroblastoma, through the use of PDGF receptor kinase inhibitors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10446987" 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="#46" class="mim-tip-reference" title="Simon, M.-P., Navarro, M., Roux, D., Pouyssegur, J. <strong>Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in dermatofibrosarcoma protuberans (DP).</strong> Oncogene 20: 2965-2975, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11420709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11420709</a>] [<a href="https://doi.org/10.1038/sj.onc.1204426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11420709">Simon et al. (2001)</a> demonstrated that stably transfected clones that expressed the COL1A1-PDGFB chimeric protein became growth-factor independent and tumorigenic in nude mice. In addition, supernatants of the transfected cells significantly stimulated fibroblastic cell growth through the activation of the PDGFB receptor pathway. These results strongly suggested that the chimeric gene expression associated with DFSP induces tumor formation through production of mature PDGFB in an autocrine or paracrine way. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11420709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515631;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=rs397515631" 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=rs397515631" 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=RCV000066212 OR RCV002460906" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000066212, RCV002460906" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000066212...</a>
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<p>In affected members of a Serbian family (family S) with idiopathic basal ganglia calcification-5 (IBGC5; <a href="/entry/615483">615483</a>), originally reported by <a href="#34" class="mim-tip-reference" title="Kostic, V. S., Lukic-Jecmenica, M., Novakovic, I., Dobricic, V., Brajkovic, L., Krajinovic, M., Klein, C., Pavlovic, A. <strong>Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.</strong> J. Neurol. 258: 1637-1642, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21409505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21409505</a>] [<a href="https://doi.org/10.1007/s00415-011-5985-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21409505">Kostic et al. (2011)</a>, <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified a heterozygous c.433C-T transition in exon 4 of the PDGFB gene, resulting in a gln145-to-ter (Q145X) substitution. The mutation, which was found by genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was not present in the Exome Variant Server database, in 173 in-house controls, or in 578 ancestry-matched controls. The mutation was predicted to lead to a loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23913003+21409505" 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 3 members of a Brazilian family (family B) with IBGC5 (<a href="/entry/615483">615483</a>), <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified a heterozygous c.356T-C transition in exon 4 of the PDGFB gene, resulting in a leu119-to-pro (L119P) substitution in a predicted receptor-binding loop. The mutation was not present in the Exome Variant Server or dbSNP databases, in 173 in-house controls, or in 378 ancestry-matched controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. (In the article, the nucleotide change was cited as c.356T-C and c.356C-T; <a href="#31" class="mim-tip-reference" title="Keller, A. <strong>Personal Communication.</strong> Zurich, Switzerland 10/25/2013."None>Keller (2013)</a> confirmed that the correct change is c.356T-C.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122398 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122398;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=rs398122398" 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=rs398122398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 9 affected members of a large 3-generation French family (family F) with IBGC5 (<a href="/entry/615483">615483</a>), <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified a heterozygous c.726G-C transversion after exon 6 of the PDGFB gene, resulting in an extension of the protein beyond the termination codon (Ter242TyrExtTer89). The mutation was not present in the Exome Variant Server database or in 173 in-house controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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">rs397515633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515633;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=rs397515633" 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=rs397515633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<div class="mim-changed mim-change"><p>In 5 affected members of a German family (family F8) with idiopathic basal ganglia calcification-5 (IBGC5; <a href="/entry/615483">615483</a>), <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified a heterozygous c.445C-T transition in exon 4 of the PDGFB gene, resulting in an arg149-to-ter (R149X) substitution. The variant was not present in the Exome Variant Server database or in 173 in-house controls or 278 German controls. The mutation was predicted to lead to a loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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></div>
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<div class="mim-changed mim-change"><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, <a href="#21" class="mim-tip-reference" title="Hayashi, T., Legati, A., Nishikawa, T., Coppola, G. <strong>First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.</strong> Psychiat. Clin. Neurosci. 69: 77-83, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25211641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25211641</a>] [<a href="https://doi.org/10.1111/pcn.12238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25211641">Hayashi et al. (2015)</a> identified heterozygosity for the c.445C-T transition in exon 4 of the PDGFB gene, resulting in an arg149-to-ter (R149X) substitution. The variant was not present in the dbSNP, ESP6500, and 1000 Genomes Project databases. The phenotype was characterized by auditory hallucinations with onset at 16 years of age and a diagnosis of schizophrenia in the son. His father had memory and gait disturbances in his late 60s. A symmetrical area of calcification over the basal ganglia on CT scan was seen in both father and son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25211641" 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></div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122399 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122399;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=rs398122399" 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=rs398122399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family (family 10) with IBGC5 (<a href="/entry/615483">615483</a>), <a href="#30" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. <strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong> Nature Genet. 45: 1077-1082, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>] [<a href="https://doi.org/10.1038/ng.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23913003">Keller et al. (2013)</a> identified a heterozygous c.3G-A transition in exon 1 of the PDGFB gene, resulting in disruption of the translation initiation codon. The mutation was not present in the Exome Variant Server database or in 173 in-house controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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="#Bishop1981" class="mim-tip-reference" title="Bishop, J. M. <strong>Enemies within: the genesis of retrovirus oncogenes.</strong> Cell 23: 5-6, 1981.">Bishop (1981)</a>; <a href="#Deuel1983" class="mim-tip-reference" title="Deuel, T. F., Huang, J. S., Huang, S. S., Stroobant, P., Waterfield, M. D. <strong>Expression of a platelet-derived growth factor-like protein in simian sarcoma virus transformed cells.</strong> Science 221: 1348-1350, 1983.">Deuel et al. (1983)</a>; <a href="#Devare1983" class="mim-tip-reference" title="Devare, S. G., Reddy, E. P., Law, J. D., Robbins, K. C., Aaronson, S. A. <strong>Nucleotide sequence of the simian sarcoma virus genome: demonstration that its acquired cellular sequences encode the transforming gene product p28-sis.</strong> Proc. Nat. Acad. Sci. 80: 731-735, 1983.">Devare et al. (1983)</a>; <a href="#Groffen1983" class="mim-tip-reference" title="Groffen, J., Heisterkamp, N., Stephenson, J. R., Geurts van Kessel, A., de Klein, A., Grosveld, G., Bootsma, D. <strong>c-sis is translocated from chromosome 22 to chromosome 9 in chronic myelocytic leukemia.</strong> J. Exp. Med. 158: 9-15, 1983.">Groffen et
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al. (1983)</a>; <a href="#Josephs1983" class="mim-tip-reference" title="Josephs, S. F., Dalla-Favera, R., Gelmann, E. P., Gallo, R. C., Wong-Staal, F. <strong>5-prime viral and human cellular sequences corresponding to the transforming gene of simian sarcoma virus.</strong> Science 219: 503-505, 1983.">Josephs et al. (1983)</a>; <a href="#Josephs1984" class="mim-tip-reference" title="Josephs, S. F., Ratner, L., Clarke, M. F., Westin, E. H., Reitz, M. S., Wong-Staal, F. <strong>Transforming potential of human c-sis nucleotide sequences encoding platelet-derived growth factor.</strong> Science 225: 636-639, 1984.">Josephs et al. (1984)</a>; <a href="#Julier1985" class="mim-tip-reference" title="Julier, C., Reghis, A., Szajnert, M. F., Kaplan, J. C., Lathrop, G. M., Lalouel, J. M. <strong>A preliminary linkage map of human chromosome 22. (Abstract)</strong> Cytogenet. Cell Genet. 40: 665 only, 1985.">Julier et
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al. (1985)</a>; <a href="#Julier1985" class="mim-tip-reference" title="Julier, C., Reghis, A., Szajnert, M. F., Kaplan, J. C., Lathrop, G. M., Lalouel, J. M. <strong>A preliminary linkage map of human chromosome 22. (Abstract)</strong> Cytogenet. Cell Genet. 40: 665 only, 1985.">Julier et al. (1985)</a>; <a href="#Leal1985" class="mim-tip-reference" title="Leal, F., Williams, L. T., Robbins, K. C., Aaronson, S. A. <strong>Evidence that the v-sis gene product transforms by interaction with the receptor for platelet-derived growth factor.</strong> Science 230: 327-330, 1985.">Leal et al. (1985)</a>; <a href="#Owen1984" class="mim-tip-reference" title="Owen, A. J., Pantazis, P., Antoniades, H. N. <strong>Simian sarcoma virus-transformed cells secrete a mitogen identical to platelet-derived growth factor.</strong> Science 225: 54-56, 1984.">Owen et al.
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(1984)</a>; <a href="#Rao1986" class="mim-tip-reference" title="Rao, C. D., Igarashi, H., Chiu, I.-M., Robbins, K. C., Aaronson, S. A. <strong>Structure and sequence of the human c-sis/platelet-derived growth factor 2 (SIS/PDGF2) transcriptional unit.</strong> Proc. Nat. Acad. Sci. 83: 2392-2396, 1986.">Rao et al. (1986)</a>; <a href="#Robbins1983" class="mim-tip-reference" title="Robbins, K. C., Antoniades, H. N., Devare, S. G., Hunkapiller, M. W., Aaronson, S. A. <strong>Structural and immunological similarities between simian sarcoma virus gene product(s) and human platelet-derived growth factor.</strong> Nature 305: 605-608, 1983.">Robbins et al. (1983)</a>; <a href="#Robbins1982" class="mim-tip-reference" title="Robbins, K. C., Devare, S. G., Reddy, E. P., Aaronson, S. A. <strong>In vivo identification of the transforming gene product of simian sarcoma virus.</strong> Science 218: 1131-1133, 1982.">Robbins et al.
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Aurias, A., Rimbaut, C., Buffe, D., Dubousset, J., Mazabraud, A.
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<strong>Chromosomal translocations in Ewing's sarcoma. (Letter)</strong>
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New Eng. J. Med. 309: 496-497, 1983.
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Bartram, C. R., de Klein, A., Hagemeijer, A., Grosveld, G., Heisterkamp, N., Groffen, J.
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<strong>Localization of the human c-sis oncogene in Ph-1-positive and Ph-1-negative chronic myelocytic leukemia by in situ hybridization.</strong>
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Blood 63: 223-225, 1984.
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[<a href="https://doi.org/10.1126/science.277.5323.242" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.6293053" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.6264598" target="_blank">Full Text</a>]
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<a id="Yektay Farahmand2024" class="mim-anchor"></a>
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Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A.
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[<a href="https://doi.org/10.5603/pjnns.97716" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 01/13/2025
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Bao Lige - updated : 01/08/2025<br>Paul J. Converse - updated : 08/14/2017<br>Cassandra L. Kniffin - updated : 10/17/2013<br>Marla J. F. O'Neill - updated : 12/2/2009<br>Cassandra L. Kniffin - updated : 7/14/2009<br>Cassandra L. Kniffin - updated : 9/21/2007<br>Patricia A. Hartz - updated : 4/21/2006<br>Patricia A. Hartz - updated : 3/10/2006<br>Ada Hamosh - updated : 8/2/2005<br>Ada Hamosh - updated : 6/2/2005<br>Ada Hamosh - updated : 3/31/2003<br>Victor A. McKusick - updated : 9/4/2001<br>Victor A. McKusick - updated : 8/23/2001<br>Paul J. Converse - updated : 3/7/2000<br>Victor A. McKusick - updated : 9/29/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Victor A. McKusick - updated : 7/10/1997
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 01/13/2025
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<span class="mim-text-font">
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mgross : 01/09/2025<br>mgross : 01/09/2025<br>mgross : 01/08/2025<br>mgross : 08/14/2017<br>carol : 10/25/2013<br>carol : 10/24/2013<br>ckniffin : 10/17/2013<br>carol : 5/29/2013<br>carol : 5/23/2011<br>carol : 1/20/2010<br>joanna : 1/18/2010<br>wwang : 12/7/2009<br>terry : 12/2/2009<br>wwang : 7/31/2009<br>ckniffin : 7/14/2009<br>terry : 2/19/2009<br>carol : 2/13/2009<br>carol : 8/5/2008<br>wwang : 10/2/2007<br>ckniffin : 9/21/2007<br>wwang : 4/25/2006<br>terry : 4/21/2006<br>wwang : 3/24/2006<br>terry : 3/10/2006<br>alopez : 8/3/2005<br>terry : 8/2/2005<br>alopez : 6/6/2005<br>wwang : 6/3/2005<br>terry : 6/2/2005<br>alopez : 11/17/2003<br>mgross : 6/23/2003<br>terry : 6/20/2003<br>alopez : 5/16/2003<br>alopez : 3/31/2003<br>terry : 3/31/2003<br>ckniffin : 2/28/2003<br>alopez : 9/7/2001<br>terry : 9/4/2001<br>mcapotos : 8/23/2001<br>carol : 3/7/2000<br>mgross : 10/13/1999<br>terry : 9/29/1999<br>carol : 2/22/1999<br>terry : 2/19/1999<br>dkim : 12/15/1998<br>alopez : 7/21/1998<br>terry : 7/28/1997<br>mark : 7/10/1997<br>terry : 7/9/1997<br>terry : 7/8/1997<br>mark : 1/15/1997<br>jenny : 1/14/1997<br>terry : 1/9/1997<br>mark : 6/10/1996<br>mimadm : 6/7/1995<br>terry : 4/27/1994<br>supermim : 3/16/1992<br>carol : 1/29/1992<br>carol : 11/14/1990<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>*</strong> 190040
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
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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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<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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V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE<br />
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PLATELET-DERIVED GROWTH FACTOR, B CHAIN<br />
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PDGF, B CHAIN<br />
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PDGF2<br />
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ONCOGENE SIS<br />
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SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SSV
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PDGFB/COL1A1 FUSION GENE, INCLUDED
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</span>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PDGFB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ICD10CM:</strong> D32.9;
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</span>
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</p>
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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: 22q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:39,223,359-39,244,982 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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22q13.1
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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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Basal ganglia calcification, idiopathic, 5
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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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615483
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Meningioma, SIS-related
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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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607174
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Retroviruses have been identified as the etiologic agents of naturally occurring tumors in several animal species, including certain human T-cell leukemias and lymphomas. Some of the viruses rapidly induce tumors when inoculated into animals and can transform cells in vitro. The genomes of these viruses contain sequences, called viral onc genes, which are directly responsible for transformation both in vitro and in vivo. Evidence indicates that these onc genes originated from normal cellular genes by recombination between a parent nontransforming virus and host cellular DNA. Molecular hybridization indicates considerable evolutionary conservation of the cellular genes that give rise to viral transforming genes, suggesting that cellular onc genes may code for important functions in cell growth or tissue differentiation. Dalla-Favera et al. (1981) reported the detection, molecular cloning and genomic organization of the human onc gene (c-sis) related to the transforming gene (v-sis) of simian sarcoma virus (SSV) derived from the woolly monkey. The gene was cloned from the human DNA library of Maniatis. The protein product of the c-sis gene has not been identified. Many of the known transforming proteins are kinases that have the unusual property of phosphorylating tyrosine residues. Some are structurally and functionally similar to cellular protein kinases involved in the regulation of the Na-K-ATPase pump. In an addendum to another paper (Wong-Staal et al., 1981), the same workers reported finding more than 1 allelic form of the c-sis locus. </p><p>Doolittle et al. (1983) concluded that the SIS oncogene is the same as, or very closely related to, the gene for platelet-derived growth factor. The conclusion was based on the demonstration of extensive sequence similarity. Waterfield et al. (1983) likewise pointed out the close structural similarity. PDGF is the major polypeptide mitogen in serum for cells of mesenchymal origin. </p><p>Josephs et al. (1984) concluded that the SIS gene encodes 1 chain of human PDGF. PDGF has 2 dissimilar subunits, A and B. It is the B chain that has homology to SIS (Collins et al., 1985). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kelly et al. (1985) showed that the PDGF B chain alone is sufficient for mitogenesis. </p><p>Hermansson et al. (1988) presented evidence implicating an autocrine growth stimulation by PDGFB in the pathologic proliferation of endothelial cells characteristically found in glioblastomas. </p><p>Most proliferating cells are programmed to undergo apoptosis unless specific survival signals are provided. Platelet-derived growth factor promotes cellular proliferation and inhibits apoptosis. Romashkova and Makarov (1999) showed that PDGF activates the RAS/PIK3/AKT1/IKK/NFKB1 pathway. In this pathway, NFKB1 (164011) does not induce c-myc and apoptosis, but instead induces putative antiapoptotic genes. In response to PDGF, AKT1 (164730) transiently associates with IKK (see 600664) and induces IKK activation. The authors suggested that under certain conditions PIK3 (see 171834) may activate NFKB1 without the involvement of NFKBIA (164008) or NFKBIB (604495) degradation. </p><p>Choi et al. (2005) demonstrated that PRDX2 (600538) is a negative regulator of PDGF signaling. Peroxiredoxin type II (Prx II) deficiency results in increased production of peroxide, enhanced activation of PDGF receptor (PDGFR; see 173490) and phospholipase C-gamma-1 (172420), and subsequently increased cell proliferation and migration in response to PDGF. These responses are suppressed by expression of wildtype Prx II, but not an inactive mutant. Notably, Prx II is recruited to PDGFR upon PDGF stimulation, and suppresses protein tyrosine phosphatase inactivation. Prx II also leads to the suppression of PDGFR activation in primary culture and in a murine restenosis model, including PDGF-dependent neointimal thickening of vascular smooth muscle cells. Choi et al. (2005) concluded that their results demonstrate a localized role for endogenous peroxide in PDGF signaling, and indicate a biologic function for Prx II in cardiovascular disease. </p><p>Kratchmarova et al. (2005) found that the differentiation of human mesenchymal stem cells into bone-forming cells is stimulated by epidermal growth factor (EGF; 131530) but not PDGF. They used mass spectrometry-based proteomics to comprehensively compare proteins that were tyrosine-phosphorylated in response to EGF and PDGF and their associated partners. More than 90% of these signaling proteins were used by both ligands, whereas the phosphatidylinositol 3-kinase pathway was exclusively activated by PDGF, implicating it as a possible control point. Indeed, chemical inhibition of phosphatidylinositol 3-kinase (see 603157) in PDGF-stimulated cells removed the differential effect of the 2 growth factors, bestowing full differentiation effect onto PDGF. Kratchmarova et al. (2005) concluded that their study shows that quantitative proteomics can directly compare entire signaling networks and discover critical differences capable of changing cell fate. </p><p>During the development of atherosclerotic plaques, vascular smooth muscle cells change from the physiologic contractile phenotype to the pathophysiologic synthetic phenotype. They then migrate into the intima where they proliferate and produce extracellular matrix. Chen et al. (2006) found that PDGFB and IL1B (147720) cooperate in inducing contractile-to-synthetic phenotype modulation of human aortic smooth muscle cells in culture. Phenotypic modulation by PDGFB and IL1B involved crosstalk between their corresponding receptors PDGFRB (173410) and IL1R1 (147810) and was mediated through the PI3K (see 171834)/AKT (see 164730)/P70S6K (608938) signaling pathway. </p><p>Chojnacki et al. (2008) found that PDGF stimulated fetal human PDGF-responsive neural precursor cells (PRPs) to generate neurospheres that differentiated primarily into oligodendrocytes, which acquired myelin basic protein (159430) expression, as well as neurons and a small number of astrocytes. Together with PDGF, FGF2 (134920) promoted fetal human PRP expansion and self-renewal. In contrast, adult human PRPs isolated from the corpus callosum required twice the culture period to generate neurospheres, which contained oligodendrocytes, as well as astrocytes, but not neurons. FGF2 did not promote adult human PRP self-renewal. Chojnacki et al. (2008) concluded that differences in the intrinsic proliferation, phenotype, and self-renewal properties of fetal and adult human PRPs indicate that they are distinct populations, which may result in distinct myelin-production capabilities. </p><p>In a cultured bovine retinal pericyte model, Geraldes et al. (2009) demonstrated that hyperglycemia persistently activates PRKCD (176977) and MAPK14, thus increasing expression of SHP1 (PTPN6; 176883), and that this occurs independently of NFKB activation. This signaling cascade leads to PDGFRB dephosphorylation and a reduction in downstream signaling from this receptor, resulting in pericyte apoptosis, the most specific vascular histopathology associated with diabetic complications (see 603933). The authors observed increased PRKCD activity and an increase in the number of acellular capillaries in diabetic mouse retinas, which were not reversible with insulin treatment that achieved normoglycemia. Unlike diabetic age-matched wildtype mice, diabetic Prkcd -/- mice did not show activation of MAPK14 or SHP1, inhibition of PDGFB signaling in vascular cells, or the presence of acellular capillaries. The authors also observed PRKCD, MAPK14, and SHP1 activation in brain pericytes and in the renal cortex of diabetic mice. Geraldes et al. (2009) concluded that this represents a new signaling pathway by which hyperglycemia can induce PDGFB resistance and increased vascular cell apoptosis to cause diabetic vascular complications. </p><p>By Western blot, immunofluorescence, and confocal microscopy analyses, Charbonneau et al. (2016) demonstrated that the receptor tyrosine kinase PDGFR was specifically upregulated in rheumatoid arthritis (RA; 180300) synoviocytes and synovial tissues. PDGFR activation involved TGFB-induced upregulation of PDGFB mediated by the TGFBR1 (190181)/SMAD (see 601366) and PI3K/AKT pathways. Charbonneau et al. (2016) proposed that an overreactive TGFB/PDGFB/PDGFR pathway is involved in synoviocyte-driven extracellular matrix degradation in RA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dalla-Favera et al. (1981) determined that the SIS gene extends over a region of about 12 kb, which includes 1.2 kb of v-sis-related sequences interrupted by 4 intervening sequences. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Studies of hybrids between thymidine kinase-deficient mouse cells and human fibroblasts carrying a 22/17 translocation showed that the sis gene is in the region 22q11-qter (Dalla-Favera et al., 1982). Swan et al. (1982) also mapped c-sis to chromosome 22 by somatic cell hybridization. They pointed out that the simian sarcoma virus was the only known transforming retrovirus of primate origin. </p><p>On germline chromosomes by in situ hybridization, Jhanwar et al. (1984) assigned SIS to 22q13.1, a site distal to the breakpoint involved in formation of the Philadelphia chromosome, 22q11. Julier et al. (1985) concluded from multilocus linkage tests that the oncogene SIS locus is most likely distal to MB and that both are distal to IGL. The following tentative map was derived: cen--IGL--0.10--D22S1--0.20--MB--0.07--(SIS, P1). </p><p>In the mouse SIS maps to chromosome 15 (Kozak et al., 1983), which shows other evidence of homology of synteny to human chromosome 22--diaphorase-1 (613213) and arylsulfatase A (607574) are on MM15 and HSA22. </p><p>Chromosomal translocations involving 22q12 have been found in most cases of Ewing sarcoma (612219) (Aurias et al., 1983; Turc-Carel et al., 1983). Bechet et al. (1984) showed that the SIS oncogene is not activated in Ewing sarcoma. By in situ hybridization, Bartram et al. (1984) concluded that SIS is located in the region 22q12.3-22q13.1, far from the breakpoint 22q11 of CML (608232), and that SIS segregates with the translocated part of chromosome 22 to various chromosomes in Ph1-positive cases of CML but remains on chromosome 22 in Ph1-negative cases. Thus, SIS is probably not involved in the malignant process. </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>Cytogenetics</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><strong><em>PDGFB/COL1A1 Fusion Gene</em></strong></p><p>
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Dermatofibrosarcoma protuberans (DFSP; 607907), an infiltrative skin tumor of intermediate malignancy, presents specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22). Simon et al. (1997) characterized the breakpoints from translocations and rings in dermatofibrosarcoma protuberans and its juvenile form, giant cell fibroblastoma, on the genomic and RNA levels. They found that these rearrangements fuse the PDGFB gene and the COL1A1 gene (120150). Simon et al. (1997) commented that PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes was not fully understood. They noted that neither COL1A1 nor PDGFB had hitherto been implicated in tumor translocations. The gene fusions deleted exon 1 of PDGFB and released this growth factor from its normal regulation; see 190040.0002. </p>
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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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<span class="mim-text-font">
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<p>Nakanishi et al. (2007) used RT-PCR to examine the COL1A1/PDGFB transcript using frozen biopsy specimens from 3 unrelated patients with DFSP and identified fusion of COL1A1 exon 25, exon 31, and exon 46, respectively, to exon 2 of the PDGFB gene. Clinical features and histopathology did not demonstrate any specific characteristics associated with the different transcripts. </p><p><strong><em>Meningioma</em></strong></p><p>
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In a family in which 4 persons developed meningiomas (607174) at a median age about 10 years younger than that found for meningioma patients in the general population, as reported by Bolger et al. (1985), Smidt et al. (1990) identified a deletion in the fifth intron of the PDGFB (SIS) gene (190040.0001). </p><p><strong><em>Idiopathic Basal Ganglia Calcification 5</em></strong></p><p>
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Keller et al. (2013) identified 6 different heterozygous putative loss-of-function mutations in the PDGFB gene (see, e.g., 190040.0003-190040.0007) in 6 (18.8%) of 13 families with idiopathic basal ganglia calcification-5 (IBGC5; 615483). The phenotype was characterized by progressive neurologic symptoms and associated with brain calcification mainly affecting the basal ganglia, although some patients had more extensive calcification affecting the thalamus, cerebellum, or white matter. Symptoms included motor disturbances, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients were asymptomatic. </p><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, Hayashi et al. (2015) identified heterozygosity for one of the mutations in the PDGFB gene (R149X; 190040.0006) that was previously reported by Keller et al. (2013). The mutation was found by Sanger sequencing. </p><p>In 4 members of a family with IBGC5, Keogh et al. (2015) identified a heterozygous missense mutation (c.3657C-T, P122L) in the PDGFB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. </p><p>In 2 Swedish families with IBGC5, Yektay Farahmand et al. (2024) identified heterozygous nonsense mutations in the PDGFB gene: Q140X (c.418C-T, NM_002608.4) in family A and R191X (c.571C-T, NM_002608.4) in family B. The mutations were found by whole-exome or whole-genome sequencing, followed by targeted investigation of all known genes related to IBGC. Sanger sequencing confirmed segregation of the mutation with disease in the families. The variants were not present in gnomAD (v2.1). </p>
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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>Disruption of the Pdgfb gene or the gene for its receptor in mice leads to the development of lethal hemorrhage and edema in late embryogenesis and absence of kidney glomerular mesangial cells. Lindahl et al. (1997) found that mouse embryos deficient in Pdgfb lack microvascular pericytes, which normally form part of the capillary wall, and develop numerous capillary microaneurysms that rupture at late gestation. Endothelial cells of the sprouting capillaries in mutant mice appeared to be unable to attract PDGF-receptor-beta-positive pericyte progenitor cells. Pericytes may contribute to the mechanical stability of the capillary wall. Comparisons made between PDGF-null mouse phenotypes suggested a general role for PDGFs in the development of myofibroblasts. </p><p>By targeting Pdgfb ablation to the endothelium, Enge et al. (2002) created viable mice with extensive inter- and intra-individual variation in the density of pericytes throughout the central nervous system. They found a strong inverse correlation between pericyte density and the formation of a range of retinal microvascular abnormalities reminiscent of those seen in diabetic humans. Proliferative retinopathy invariably developed when pericyte density was less than 50% of normal. Since a reduction of pericyte density was sufficient to cause retinopathy in mice, Enge et al. (2002) hypothesized that pericyte loss may also lead to human diabetic retinopathy (see 603933). </p><p>Cao et al. (2003) reported that a combination of 2 angiogenic factors, PDGF-BB and FGF2 (134920), synergistically induces vascular networks, which remain stable for more than a year even after depletion of angiogenic factors. In both rat and rabbit ischemic hindlimb models, PDGF-BB and FGF2 together markedly stimulated collateral arteriogenesis after ligation of the femoral artery, with a significant increase in vascularization and improvement in paw blood flow. A possible mechanism of angiogenic synergism between PDGF-BB and FGF2 involves upregulation of the expression of PDGF receptor-alpha (PDGFRA; 173490) and PDGF receptor-beta (PDGFRB; 173410) by FGF2 in newly formed blood vessels. Cao et al. (2003) showed that single angiogenic factors, including FGF2, VEGF (192240), and PDGF-BB, were unable to establish stable vascular networks. In contrast, a combination of PDGF-BB and FGF2, but not PDGF-BB and VEGF or VEGF and FGF2, synergistically induced angiogenesis and long-lasting functional vessels. While each of the angiogenic factors FGF2, VEGF and PDGF-BB is able to stimulate angiogenesis in the short term, none of these factors alone is able to maintain these newly formed vessels. </p><p>Keller et al. (2013) found that 4-month-old mice homozygous for a hypomorphic Pdgfb allele developed clusters of calcified nodules in the midbrain and thalamus. At age 1 year, mutant mice had more extensive calcification involving the basal forebrain, midbrain, and pons. The lesions were punctate and composed of calcium phosphate. Transgenic reexpression of 2 copies of wildtype endothelial Pdgfb in Pdgfb-null mice prevented the development of brain calcification, whereas reexpression of 1 copy of the rescue allele did not prevent calcification. The findings suggested that it is endothelial Pdgfb, rather than neuronal Pdgfb, that drives the pathology. Keller et al. (2013) postulated that the brain calcification may result from defects in pericytes and the blood-brain barrier. </p><p>Using in vivo imaging techniques, Wang et al. (2023) showed that brain vessel-associated calcifications developed in male mice during natural aging and that the lesions occurred primarily in a specific subthalamic region. Aged male mice displayed dramatically increased serum Pdgfb compared with young males, whereas aged and young females showed no difference in serum Pdgfb. Transgenic mice with preosteoclast-specific Pdgfb overexpression exhibited elevated serum Pdgfb levels and recapitulated age-associated thalamic calcification. In contrast, normalization of circulating Pdgfb through preosteoclast-specific Pdgfb deletion abolished age-associated brain calcification. Recombinant Pdgfb induced brain vessel calcification and activated the osteogenic program in an ex vivo cerebrovascular culture system. Gene array and single cell RNA-sequencing analyses revealed that Pdgfb upregulated multiple osteogenic differentiation genes and the phosphate transporter Slc20a1 (137570) in cerebral microvessels. Mechanistically, Pdgfb stimulated phosphorylation of its receptor, Pdgfr-beta, and Erk (see 601795), leading to activation of Runx2 (600211). Activation of Runx2, in turn, induced transcription of osteoblast differentiation genes in vessel pericytes and upregulated Slc20a1 in astrocytes. </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>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 MENINGIOMA</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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PDGFB, 135-BP DEL, IVS5
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<br />
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ClinVar: RCV000013429
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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 4 persons developed meningiomas (607174) at a median age about 10 years younger than that found for meningioma patients in the general population, as reported by Bolger et al. (1985), Smidt et al. (1990) identified a deletion in the fifth intron of the SIS gene. Normally the SIS gene has an Alu sequence in this region which includes 2 perfect 130-nucleotide repeated sequences, separated by 5 bp. The deleted allele was missing 1 copy of the 130-bp repeat and the intervening 5 bp. An identical deletion was also found in DNA from 1 of 13 sporadic meningiomas. Whether the deletion inactivates the SIS allele, in analogy to the loss of function of suppressor genes in the development of retinoblastoma and Wilms tumor, or activates the expression of the SIS gene is not clear. A point mutation in the fourth intron of the HRAS gene (190020) is associated with overexpression (Cohen and Levinson, 1988). </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 DERMATOFIBROSARCOMA PROTUBERANS, SOMATIC</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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PDGFB, PDGFB/COL1A1 FUSION
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<br />
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ClinVar: RCV000074299
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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>Simon et al. (1997) demonstrated a fusion between intron 43 of the type I collagen (COL1A1; 120150) gene and intron 1 of the platelet-derived growth factor-beta gene that resulted in dermatofibrosarcoma protuberans (DFSP; 607907). The fusion process deleted exon 1 of PDGFB and released its growth factor from normal regulation. Normally, PDGFB is believed to reach the cell surface in order to generate an autocrine growth signal. In the case of a putative chimeric COL1A1/PDGFB protein, COL1A1 would provide the signal peptide, which is a prerequisite for export of the protein. Simon et al. (1997) showed breaks in 4 different regions of the COL1A1 gene in the 5 tumors studied, indicating that the COL1A1 contribution to the putative chimeric protein may be accessory and less likely to be crucial for potential growth factor activity. Normally PDGFB is processed by N- and C-terminal peptidases into a mature growth factor. The domains that are recognized by these enzymes are present in the putative chimeric COL1A1/PDGFB protein, as they are encoded by PDGFB exon 3 and exon 6, respectively. This suggested that the proteolytic processing of the putative chimeric COL1A1/PDGFB protein may occur as for the normal PDGFB. Shimizu et al. (1999) concluded that the COL1A1/PDGFB fusion gene associated with DFSP contributes to tumor formation through ectopic production of PDGF-BB, the homodimer formed by disulfide-linking, and the formation of an autocrine loop. Their findings thus suggested that PDGF receptors could be a target for pharmacologic treatment of DFSP and giant cell fibroblastoma, through the use of PDGF receptor kinase inhibitors. </p><p>To characterize the functional and structural properties of the COL1A1/PDGFB fusion protein, Shimizu et al. (1999) generated a stable NIH 3T3 cell line that contained a tumor-derived chimeric gene resulting from a COL1A1 intron-7/PDGFB intron-1 fusion. Expression of the fusion protein led to morphologic transformation and increased growth rate of these cells. A PDGF receptor kinase inhibitor reversed the transformed phenotype and reduced the growth rate of the cells expressing the fusion protein but had no effect on control cells. The presence of dimeric fusion protein precursors was demonstrated through PDGFB immunoprecipitation of metabolically labeled cells and also by PDGFB immunoprecipitation followed by immunoblotting with COL1A1 antibodies. Pulse-chase studies demonstrated that the COL1A1/PDGFB precursor was processed to an end product that was indistinguishable from wildtype PDGF-BB, the homodimer formed by disulfide linking. Finally, COL1A1/PDGFB-expressing cells generated tumors after subcutaneous injection into nude mice, and tumor growth was reduced by treatment with the PDGF receptor kinase inhibitor. Shimizu et al. (1999) concluded that the COL1A1/PDGFB fusion gene associated with DFSP contributes to tumor formation through ectopic production of PDGF-BB and the formation of an autocrine loop. Their findings thus suggested that PDGF receptors could be a target for pharmacologic treatment of DFSP and giant cell fibroblastoma, through the use of PDGF receptor kinase inhibitors. </p><p>Simon et al. (2001) demonstrated that stably transfected clones that expressed the COL1A1-PDGFB chimeric protein became growth-factor independent and tumorigenic in nude mice. In addition, supernatants of the transfected cells significantly stimulated fibroblastic cell growth through the activation of the PDGFB receptor pathway. These results strongly suggested that the chimeric gene expression associated with DFSP induces tumor formation through production of mature PDGFB in an autocrine or paracrine way. </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 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</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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PDGFB, GLN145TER
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<br />
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SNP: rs397515631,
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ClinVar: RCV000066212, RCV002460906
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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 affected members of a Serbian family (family S) with idiopathic basal ganglia calcification-5 (IBGC5; 615483), originally reported by Kostic et al. (2011), Keller et al. (2013) identified a heterozygous c.433C-T transition in exon 4 of the PDGFB gene, resulting in a gln145-to-ter (Q145X) substitution. The mutation, which was found by genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was not present in the Exome Variant Server database, in 173 in-house controls, or in 578 ancestry-matched controls. The mutation was predicted to lead to a loss of protein function. </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 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</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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PDGFB, LEU119PRO
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<br />
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SNP: rs397515632,
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ClinVar: RCV000066214
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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 3 members of a Brazilian family (family B) with IBGC5 (615483), Keller et al. (2013) identified a heterozygous c.356T-C transition in exon 4 of the PDGFB gene, resulting in a leu119-to-pro (L119P) substitution in a predicted receptor-binding loop. The mutation was not present in the Exome Variant Server or dbSNP databases, in 173 in-house controls, or in 378 ancestry-matched controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. (In the article, the nucleotide change was cited as c.356T-C and c.356C-T; Keller (2013) confirmed that the correct change is c.356T-C.) </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>.0005 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</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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PDGFB, NT726G-C
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<br />
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SNP: rs398122398,
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ClinVar: RCV000066216
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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 9 affected members of a large 3-generation French family (family F) with IBGC5 (615483), Keller et al. (2013) identified a heterozygous c.726G-C transversion after exon 6 of the PDGFB gene, resulting in an extension of the protein beyond the termination codon (Ter242TyrExtTer89). The mutation was not present in the Exome Variant Server database or in 173 in-house controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. </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>.0006 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</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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PDGFB, ARG149TER
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<br />
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SNP: rs397515633,
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ClinVar: RCV000066218, RCV003128577, RCV004730870
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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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<div class="mim-changed mim-change"><p>In 5 affected members of a German family (family F8) with idiopathic basal ganglia calcification-5 (IBGC5; 615483), Keller et al. (2013) identified a heterozygous c.445C-T transition in exon 4 of the PDGFB gene, resulting in an arg149-to-ter (R149X) substitution. The variant was not present in the Exome Variant Server database or in 173 in-house controls or 278 German controls. The mutation was predicted to lead to a loss of protein function. </p></div>
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<div class="mim-changed mim-change"><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, Hayashi et al. (2015) identified heterozygosity for the c.445C-T transition in exon 4 of the PDGFB gene, resulting in an arg149-to-ter (R149X) substitution. The variant was not present in the dbSNP, ESP6500, and 1000 Genomes Project databases. The phenotype was characterized by auditory hallucinations with onset at 16 years of age and a diagnosis of schizophrenia in the son. His father had memory and gait disturbances in his late 60s. A symmetrical area of calcification over the basal ganglia on CT scan was seen in both father and son. </p></div>
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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>.0007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5</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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PDGFB, MET1?
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<br />
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SNP: rs398122399,
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ClinVar: RCV000066220
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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 affected members of a family (family 10) with IBGC5 (615483), Keller et al. (2013) identified a heterozygous c.3G-A transition in exon 1 of the PDGFB gene, resulting in disruption of the translation initiation codon. The mutation was not present in the Exome Variant Server database or in 173 in-house controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Bishop (1981); Deuel et al. (1983); Devare et al. (1983); Groffen et
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al. (1983); Josephs et al. (1983); Josephs et al. (1984); Julier et
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|
al. (1985); Julier et al. (1985); Leal et al. (1985); Owen et al.
|
|
(1984); Rao et al. (1986); Robbins et al. (1983); Robbins et al.
|
|
(1982)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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