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Entry
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- *164780 - SKI PROTOONCOGENE; SKI
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*164780</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/164780">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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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=ENSG00000157933;t=ENST00000378536" 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=6497" 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=164780" 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=ENSG00000157933;t=ENST00000378536" 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_003036,XM_005244775,XM_005244776,XM_017002128,XM_047428466" 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_003036" 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=164780" 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=01271&isoform_id=01271_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/SKI" 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/36484,134517,4506967,33114634,119576521,119576522,530360372,530360374,1034561201,2217270334" 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/P12755" 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=6497" 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=ENSG00000157933;t=ENST00000378536" 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=SKI" 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=SKI" 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+6497" 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/SKI" 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:6497" 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/6497" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000378536.5&hgg_start=2228319&hgg_end=2310213&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10896" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10896" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ski" 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=164780[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=164780[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/SKI/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/ENSG00000157933" 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=SKI" 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=SKI" 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=SKI" 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=SKI&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/PA35796" 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:10896" 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/FBgn0085450.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:98310" 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/SKI#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:98310" 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/6497/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=6497" 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=WBGene00000901;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-990715-10" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6497" 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=SKI&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 719069008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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164780
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SKI PROTOONCOGENE; SKI
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG<br />
|
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ONCOGENE SK, CHICKEN VIRAL<br />
|
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SK ONCOGENE; SKI
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SKI" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SKI</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/64?start=-3&limit=10&highlight=64">1p36.33-p36.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:2228319-2310213&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:2,228,319-2,310,213</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/64?start=-3&limit=10&highlight=64">
|
|
1p36.33-p36.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Shprintzen-Goldberg syndrome
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/182212"> 182212 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/164780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/164780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
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<p><a href="#10" class="mim-tip-reference" title="Nomura, N., Sasamoto, S., Ishii, S., Date, T., Matsui, M., Ishizaki, R. <strong>Isolation of human cDNA clones of SKI and the SKI-related gene, SNO.</strong> Nucleic Acids Res. 17: 5489-5500, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2762147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2762147</a>] [<a href="https://doi.org/10.1093/nar/17.14.5489" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2762147">Nomura et al. (1989)</a> isolated human cDNA clones of SKI and a SKI-related gene, SNO (<a href="/entry/165340">165340</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2762147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> performed a developmental survey of SKI expression in wildtype mice and observed that at embryonic day 13.5, SKI protein was robustly expressed throughout the vessel wall in the proximal ascending aorta with less expression in the descending segment and was localized to both the cytoplasm and nucleus. At birth, aortic expression was somewhat reduced, and SKI was predominantly localized to the cytoplasm. In adult mice (postnatal day 90), SKI expression was further reduced in the medial layer of the aortic root, with exclusive cytoplasmic localization; in the more distal ascending aorta, SKI expression was largely absent from the central zone of the aortic media, despite some residual expression in the intimal and adventitial layers. <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> suggested that SKI might be predominantly required in the very proximal aorta at early stages of development for the proper regulation of TGF-beta signaling within the arterial media. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Wu, J.-W., Krawitz, A. R., Chai, J., Li, W., Zhang, F., Luo, K., Shi, Y. <strong>Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TFG-beta signaling.</strong> Cell 111: 357-367, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12419246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12419246</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01006-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12419246">Wu et al. (2002)</a> determined the crystal structure of the SMAD4 (<a href="/entry/600993">600993</a>)-binding domain of SKI in complex with the MH2 domain of SMAD4 at 2.85-angstrom resolution. The structure revealed specific recognition of the SMAD4 L3 loop region by a highly conserved interaction loop (I loop) from SKI. The SKI-binding surface on SMAD4 was found to significantly overlap with that required for binding of the receptor-mediated SMADs (R-SMADs). Indeed, SKI disrupted the formation of a functional complex between the comediator SMADs (Co-SMADs) and R-SMADs, explaining how it could lead to repression of TGF-beta, activin (see <a href="/entry/147390">147390</a>), and bone morphogenetic protein (see <a href="/entry/112264">112264</a>) responses. The structure of the SKI fragment, stabilized by a bound zinc atom, resembled the SAND domain found in transcription factors and other nuclear proteins, in which the corresponding I loop is responsible for DNA binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12419246" 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="Shinagawa, T., Nomura, T., Colmenares, C., Ohira, M., Nakagawara, A., Ishii, S. <strong>Increased susceptibility to tumorigenesis of ski-deficient heterozygous mice.</strong> Oncogene 20: 8100-8108, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781823</a>] [<a href="https://doi.org/10.1038/sj.onc.1204987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781823">Shinagawa et al. (2001)</a> mapped the SKI gene to chromosome 1p36.3. <a href="#7" class="mim-tip-reference" title="Colmenares, C., Heilstedt, H. A., Shaffer, L. G., Schwartz, S., Berk, M., Murray, J. C., Stavnezer, E. <strong>Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice.</strong> Nature Genet. 30: 106-109, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11731796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11731796</a>] [<a href="https://doi.org/10.1038/ng770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11731796">Colmenares et al. (2002)</a> confirmed the location of the gene in distal 1p36.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11781823+11731796" 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>Transforming growth factor-beta (TGFB1; <a href="/entry/190180">190180</a>) treatment of cells induces a variety of physiologic responses, including growth inhibition, differentiation, and induction of apoptosis. TGFB1 induces phosphorylation and nuclear translocation of SMAD3 (<a href="/entry/603109">603109</a>). <a href="#16" class="mim-tip-reference" title="Sun, Y., Liu, X., Eaton, E. N., Lane, W. S., Lodish, H. F., Weinberg, R. A. <strong>Interaction of the Ski oncoprotein with Smad3 regulates TGF-beta signaling.</strong> Molec. Cell 4: 499-509, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10549282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10549282</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80201-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10549282">Sun et al. (1999)</a> described the association of SMAD3 with the nuclear protooncogene protein SKI in response to the activation of TGFB1 signaling. Association with SKI repressed transcriptional activation by SMAD3, and overexpression of SKI rendered cells resistant to the growth-inhibitory effects of TGFB1. The transcriptional repression as well as the growth resistance to TGFB1 by overexpression of SKI could be overcome by overexpression of SMAD3. These results demonstrated that SKI is a novel component of the TGFB1 signaling pathway and shed light on the mechanism of action of the SKI oncoprotein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10549282" 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>Experiments involving overexpression of Ski suggest that this gene is involved in neural tube development and muscle differentiation (<a href="#17" class="mim-tip-reference" title="Sutrave, P., Kelly, A. M., Hughes, S. H. <strong>ski can cause selective growth of skeletal muscle in transgenic mice.</strong> Genes Dev. 4: 1462-1472, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2253874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2253874</a>] [<a href="https://doi.org/10.1101/gad.4.9.1462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2253874">Sutrave et al., 1990</a>; <a href="#1" class="mim-tip-reference" title="Amaravadi, L. S., Neff, A. W., Sleeman, J. P., Smith, R. C. <strong>Autonomous neural axis formation by ectopic expression of the protooncogene c-ski.</strong> Dev. Biol. 192: 392-404, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9441676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9441676</a>] [<a href="https://doi.org/10.1006/dbio.1997.8780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9441676">Amaravadi et al., 1997</a>; <a href="#9" class="mim-tip-reference" title="Kaufman, C. D., Martinez-Rodriguez, G., Hackett, P. B., Jr. <strong>Ectopic expression of c-ski disrupts gastrulation and neural patterning in zebrafish.</strong> Mech. Dev. 95: 147-162, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10906458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10906458</a>] [<a href="https://doi.org/10.1016/s0925-4773(00)00351-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10906458">Kaufman et al., 2000</a>). Ski -/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass (<a href="#4" class="mim-tip-reference" title="Berk, M., Desai, S. Y., Heyman, H. C., Colmenares, C. <strong>Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development.</strong> Genes Dev. 11: 2029-2039, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9284043[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/10.1101/gad.11.16.2029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9284043">Berk et al., 1997</a>). <a href="#7" class="mim-tip-reference" title="Colmenares, C., Heilstedt, H. A., Shaffer, L. G., Schwartz, S., Berk, M., Murray, J. C., Stavnezer, E. <strong>Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice.</strong> Nature Genet. 30: 106-109, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11731796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11731796</a>] [<a href="https://doi.org/10.1038/ng770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11731796">Colmenares et al. (2002)</a> showed that the penetrance and expressivity of the Ski -/- phenotype changes when the null mutation is backcrossed into the C57BL6/J background, with the principal change involving a switch from a neural tube defect to midline facial clefting. Other defects, including depressed nasal bridge, eye abnormalities, skeletal muscle defects, and digital abnormalities, show increased penetrance in the C57BL6/J background. Of note, these phenotypes resemble some of the features observed in individuals with 1p36 deletion syndrome (<a href="/entry/607872">607872</a>) (<a href="#13" class="mim-tip-reference" title="Shapira, S. K., McCaskill, C., Northrup, H., Spikes, A. S., Elder, F. F. B., Sutton, V. R., Korenberg, J. R., Greenberg, F., Shaffer, L. G. <strong>Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.</strong> Am. J. Hum. Genet. 61: 642-650, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326330</a>] [<a href="https://doi.org/10.1086/515520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326330">Shapira et al., 1997</a>; <a href="#15" class="mim-tip-reference" title="Slavotinek, A., Shaffer, L. G., Shapira, S. K. <strong>Monosomy 1p36.</strong> J. Med. Genet. 36: 657-663, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507720</a>]" pmid="10507720">Slavotinek et al., 1999</a>). These similarities prompted <a href="#7" class="mim-tip-reference" title="Colmenares, C., Heilstedt, H. A., Shaffer, L. G., Schwartz, S., Berk, M., Murray, J. C., Stavnezer, E. <strong>Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice.</strong> Nature Genet. 30: 106-109, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11731796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11731796</a>] [<a href="https://doi.org/10.1038/ng770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11731796">Colmenares et al. (2002)</a> to examine the chromosomal location of human SKI and to determine whether SKI is included in the deletions of 1p36. They found that human SKI indeed is located at distal 1p36.3 and was deleted in all of the individuals tested to that time who had the 1p36 deletion syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11731796+2253874+10507720+9326330+9284043+10906458+9441676" 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="#14" class="mim-tip-reference" title="Shinagawa, T., Nomura, T., Colmenares, C., Ohira, M., Nakagawara, A., Ishii, S. <strong>Increased susceptibility to tumorigenesis of ski-deficient heterozygous mice.</strong> Oncogene 20: 8100-8108, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781823</a>] [<a href="https://doi.org/10.1038/sj.onc.1204987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781823">Shinagawa et al. (2001)</a> also mapped the SKI gene to 1p36.3 and determined its relationship to the p73 tumor suppressor gene (TP73; <a href="/entry/601990">601990</a>) which also maps to 1p36. They showed that loss of 1 copy of c-ski increases susceptibility to tumorigenesis in mice. When challenged with a chemical carcinogen, c-ski heterozygous mice showed an increased level of tumor formation relative to wildtype mice. In addition, c-ski-deficient mouse embryonic fibroblasts had increased proliferative capacity, whereas overexpression of c-ski suppressed the proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Okamoto, N., Toribe, Y., Nakajima, T., Okinaga, T., Kurosawa, K., Nonaka, I., Shimokawa, O., Matsumoto, N. <strong>A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.</strong> J. Hum. Genet. 47: 556-559, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12376748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12376748</a>] [<a href="https://doi.org/10.1007/s100380200085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12376748">Okamoto et al. (2002)</a> found that the SKI gene was deleted in a Japanese girl with the 1p36 deletion syndrome with manifestations of congenital fiber-type disproportion myopathy (CFTD; <a href="/entry/255310">255310</a>) and dilated cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12376748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Atanasoski, S., Notterpek, L., Lee, H.-Y., Castagner, F., Young, P., Ehrengruber, M. U., Meijer, D., Sommer, L., Stavnezer, E., Colmenares, C., Suter, U. <strong>The protooncogene Ski controls Schwann cell proliferation and myelination.</strong> Neuron 43: 499-511, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15312649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15312649</a>] [<a href="https://doi.org/10.1016/j.neuron.2004.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15312649">Atanasoski et al. (2004)</a> found that overexpression of human SKI in cultured rodent Schwann cells inhibited TGFB1-mediated proliferation and prevented growth-arrested cells from reentering the cell cycle. Ski was upregulated in myelinating Schwann cells cocultured with dorsal root ganglion neurons, in myelinating mouse Schwann cells in vivo, and during remyelination after injury. Myelination was blocked in myelin-competent cultures derived from Ski-deficient mice, and genes encoding myelin components were downregulated in Ski-deficient nerves. Conversely, overexpression of Ski in Schwann cells caused an upregulation of myelin-related genes. Ski and Oct6 (<a href="/entry/602479">602479</a>), a transcription factor involved in myelination, appeared to mutually regulate each other. <a href="#2" class="mim-tip-reference" title="Atanasoski, S., Notterpek, L., Lee, H.-Y., Castagner, F., Young, P., Ehrengruber, M. U., Meijer, D., Sommer, L., Stavnezer, E., Colmenares, C., Suter, U. <strong>The protooncogene Ski controls Schwann cell proliferation and myelination.</strong> Neuron 43: 499-511, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15312649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15312649</a>] [<a href="https://doi.org/10.1016/j.neuron.2004.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15312649">Atanasoski et al. (2004)</a> concluded that expression of SKI is regulated by axon-Schwann cell interactions and that SKI is a crucial signal in Schwann cell development and myelination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15312649" 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="#19" class="mim-tip-reference" title="Zhang, S., Takaku, M., Zou, L., Gu, A., Chou, W., Zhang, G., Wu, B., Kong, Q., Thomas, S. Y., Serody, J. S., Chen, X., Xu, X., Wade, P. A., Cook, D. N., Ting, J. P. Y., Wan, Y. Y. <strong>Reversing SKI-SMAD4-mediated suppression is essential for T(H)17 cell differentiation.</strong> Nature 551: 105-109, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29072299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29072299</a>] [<a href="https://doi.org/10.1038/nature24283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29072299">Zhang et al. (2017)</a> demonstrated that TGF-beta enables TH17 cell differentiation by reversing SKI-SMAD4 (<a href="/entry/600993">600993</a>)-mediated suppression of the retinoic acid receptor (RAR)-related orphan receptor ROR-gamma-t (RORC; <a href="/entry/602943">602943</a>). <a href="#19" class="mim-tip-reference" title="Zhang, S., Takaku, M., Zou, L., Gu, A., Chou, W., Zhang, G., Wu, B., Kong, Q., Thomas, S. Y., Serody, J. S., Chen, X., Xu, X., Wade, P. A., Cook, D. N., Ting, J. P. Y., Wan, Y. Y. <strong>Reversing SKI-SMAD4-mediated suppression is essential for T(H)17 cell differentiation.</strong> Nature 551: 105-109, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29072299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29072299</a>] [<a href="https://doi.org/10.1038/nature24283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29072299">Zhang et al. (2017)</a> found that, unlike wildtype T cells, SMAD4-deficient T cells differentiate into TH17 cells in the absence of TGF-beta signaling in a RORC-dependent manner. Ectopic SMAD4 expression suppresses RORC expression and TH17 cell differentiation of SMAD4-deficient T cells. However, TGF-beta neutralizes SMAD4-mediated suppression without affecting SMAD4 binding to the RORC locus. Proteomic analysis revealed that SMAD4 interacts with SKI, a transcriptional repressor that is degraded upon TGF-beta stimulation. SKI controls histone acetylation and deacetylation of the RORC locus and TH17 cell differentiation via SMAD4: ectopic SKI expression inhibits H3K9 acetylation of the RORC locus, RORC expression, and TH17 cell differentiation in a SMAD4-dependent manner. Therefore, <a href="#19" class="mim-tip-reference" title="Zhang, S., Takaku, M., Zou, L., Gu, A., Chou, W., Zhang, G., Wu, B., Kong, Q., Thomas, S. Y., Serody, J. S., Chen, X., Xu, X., Wade, P. A., Cook, D. N., Ting, J. P. Y., Wan, Y. Y. <strong>Reversing SKI-SMAD4-mediated suppression is essential for T(H)17 cell differentiation.</strong> Nature 551: 105-109, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29072299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29072299</a>] [<a href="https://doi.org/10.1038/nature24283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29072299">Zhang et al. (2017)</a> concluded that TGF-beta-induced disruption of SKI reverses SKI-SMAD4-mediated suppression of ROR-gamma-t to enable TH17 cell differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29072299" 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 10 of 12 sporadic patients with Shprintzen-Goldberg syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified de novo heterozygous mutations in the SKI gene, including 8 missense mutations and one 9-bp deletion (see, e.g., <a href="#0001">164780.0001</a>-<a href="#0005">164780.0005</a>). Cultured dermal fibroblasts from affected individuals showed enhanced activation of TGF-beta signaling cascades and higher expression of TGF-beta-responsive genes relative to control cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" 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 18 of 19 patients from 13 families with characteristic features of SGS, including 5 affected individuals over 3 generations in 1 family and another family in which 3 sibs were affected, <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for 2 different in-frame deletions and 10 missense mutations in the SKI gene (see, e.g., <a href="#0002">164780.0002</a>, <a href="#0004">164780.0004</a>, <a href="#0005">164780.0005</a>, and <a href="#0007">164780.0007</a>-<a href="#0010">164780.0010</a>). All of the mutations were located in exon 1 of the SKI gene, within the R-SMAD-binding domain. No SKI mutations were found in a cohort of 11 patients with other marfanoid craniosynostosis syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> analyzed the SKI gene in 19 patients with clinically suspected SGS and identified 8 recurrent and 3 novel mutations in 11 patients (see, e.g., <a href="#0002">164780.0002</a>-<a href="#0004">164780.0004</a>, <a href="#0007">164780.0007</a>; <a href="#0010">164780.0010</a>). The authors stated that their findings, in combination with previously reported data, clearly show a mutational hotspot in the SKI gene, with 24 (73%) of 33 unrelated patients having mutations within a stretch of 5 residues (from ser31 to pro35). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> generated zebrafish with morpholino-based knockdown of the 2 paralogs of mammalian SKI (skia and skib), and observed mutant embryos with marked craniofacial cartilage deficits, including shortened and flat Meckel cartilage, irregular lengths of palatoquadrates, shortened ceratohyales, and depleted ceratobranchial arches. These deficits manifested in larval fish as maxillary hypoplasia, malformed ethmoid plate, micrognathia, and microcephaly, and were frequently accompanied by ocular hypertelorism and spinal malformation. In addition, the skia- and skib-morphant embryos showed severe cardiac anomalies, characterized by partial to complete failure in cardiac looping and malformations of the outflow tract. <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> noted that in comparison to Ski-null mice, the zebrafish morphants more closely recapitulated the human craniofacial phenotype of Shprintzen-Goldberg syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Balazs, I., Grzeschik, K. H., Stavnezer, E. <strong>Assignment of the human homologue of a chicken oncogene to chromosome 1. (Abstract)</strong> Cytogenet. Cell Genet. 37: 410-411, 1984."None>Balazs et al. (1984)</a> mapped the SK (for Sloan-Kettering) chicken viral oncogene to 1q12-qter. By in situ hybridization, <a href="#6" class="mim-tip-reference" title="Chaganti, R. S. K., Balazs, I., Jhanwar, S. C., Murty, V. V. V. S., Koduru, P. R. K., Grzeschik, K.-H., Stavnezer, E. <strong>The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22-q24.</strong> Cytogenet. Cell Genet. 43: 181-186, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026737</a>] [<a href="https://doi.org/10.1159/000132318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3026737">Chaganti et al. (1986)</a> regionalized the SKI gene to 1q22-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026737" 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">rs387907303 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907303;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=rs387907303" 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=rs387907303" 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=RCV000030816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030816</a>
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<p>In a 43-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a de novo 347G-A transition in exon 1 of the SKI gene, resulting in a gly116-to-glu (G116E) substitution at a highly conserved residue in an exposed beta hairpin loop in the DHD domain. The mutation was not found in her unaffected parents or in SNP databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907304 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907304;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907304?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907304" 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=rs387907304" 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=RCV000030817 OR RCV001266120" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030817, RCV001266120" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030817...</a>
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<p>In a 12-year-old boy and an unrelated 22-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a 94C-G transversion in exon 1 of the SKI gene, resulting in a leu32-to-val (L32V) substitution at a highly conserved residue in the SMAD2 (<a href="/entry/601366">601366</a>)/3 (<a href="/entry/603109">603109</a>)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" 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 3 unrelated patients with SGS, <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for the L32V mutation in the SKI gene. One of the patients, a 32-year-old man, had aortic root dilation, mitral valve prolapse, and mitral insufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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 50-year-old man with SGS, <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> identified heterozygosity for the L32V mutation in the SKI gene. The patient did not have mitral valve prolapse, aortic root dilation, or aneurysms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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">rs387907305 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907305;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=rs387907305" 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=rs387907305" 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=RCV000030818" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030818" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030818</a>
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<p>In a 16-year-old boy with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a 101G-A transition in exon 1 of the SKI gene, resulting in a gly34-to-asp (G34D) substitution at a highly conserved residue in the SMAD2 (<a href="/entry/601366">601366</a>)/3 (<a href="/entry/603109">603109</a>)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" 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 sister and brother with SGS, <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> identified heterozygosity for the G34D substitution in the SKI gene. The mutation was not found in their unaffected parents, nor was there evidence for somatic mosaicism in the blood of the parents. <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> suggested that germline mosaicism was the most likely explanation for the occurrence of disease in 2 sibs from healthy parents. The 13-year-old boy exhibited aortic root dilation, whereas his 22-year-sister did not have any cardiovascular features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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">rs387907306 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907306;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=rs387907306" 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=rs387907306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 21-year-old man with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a 100G-A transition in exon 1 of the SKI gene, resulting in a gly34-to-ser (G34S) substitution at a highly conserved residue in the SMAD2 (<a href="/entry/601366">601366</a>)/3 (<a href="/entry/603109">603109</a>)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-year-old girl with SGS, whose features included aortic root dilation and mitral valve prolapse, <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for the G34S mutation in the SKI gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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 10-year-old boy with SGS, <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> identified heterozygosity for a de novo G34S substitution in the SKI gene. He did not exhibit mitral valve prolapse, aortic root dilation, arterial tortuosity, or aneurysms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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">rs387907306 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907306;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=rs387907306" 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=rs387907306" 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=RCV000030820 OR RCV000623016 OR RCV001532045" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030820, RCV000623016, RCV001532045" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030820...</a>
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<p>In a 2-year-old girl with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a 100G-T transversion in exon 1 of the SKI gene, resulting in a gly34-to-cys (G34C) substitution at a highly conserved residue in the SMAD2 (<a href="/entry/601366">601366</a>)/3 (<a href="/entry/603109">603109</a>)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or in more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" 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 21-year-old woman with SGS, <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for the G34C mutation in the SKI gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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">rs398122889 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122889;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=rs398122889" 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=rs398122889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 5-year-old boy with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#8" class="mim-tip-reference" title="Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others. <strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong> Nature Genet. 44: 1249-1254, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023332">Doyle et al. (2012)</a> identified heterozygosity for a 9-bp deletion in exon 1 of the SKI gene (283_291del9), resulting in removal of 3 highly conserved residues (asp95-ser97del) in the DHD domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023332" 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">rs387907305 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907305;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=rs387907305" 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=rs387907305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 22-year-old female twins and their 20-year-old sister who had Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified a heterozygous 101G-T transversion in exon 1 of the SKI gene, resulting in a gly34-to-val (G34V) substitution at a conserved residue within the R-SMAD-binding domain. The mother had the mutation in somatic mosaic state. The mutation was not found in the dbSNP or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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 44-year-old woman with SGS, <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> identified heterozygosity for the G34V substitution in the SKI gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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">rs398122914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122914;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=rs398122914" 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=rs398122914" 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=RCV000033006" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033006" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033006</a>
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<p>In 5 affected individuals over 3 generations of a family with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for a 12-bp deletion (280_291delTCCGACCGCTCC) in exon 1 of the SKI gene, resulting in an in-frame deletion within the R-SMAD-binding domain. The mutation was not found in the dbSNP or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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>.0009 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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">rs397514589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514589;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=rs397514589" 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=rs397514589" 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=RCV000033007" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033007" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033007</a>
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<p>In an 18-year-old man with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for a 104C-A transversion in exon 1 of the SKI gene, resulting in a pro35-to-gln (P35Q) substitution at a conserved residue within the R-SMAD-binding domain. The patient had dilation of the aortic root requiring surgery at 16 years of age, and also had vertebrobasilar and internal carotid tortuosity, mitral valve prolapse, and a dilated pulmonary artery root. The mutation was not found in the dbSNP or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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>.0010 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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">rs397514590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514590;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=rs397514590" 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=rs397514590" 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=RCV000033008 OR RCV004018704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033008, RCV004018704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033008...</a>
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<p>In a 21-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; <a href="/entry/182212">182212</a>), <a href="#5" class="mim-tip-reference" title="Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. <strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong> Am. J. Hum. Genet. 91: 950-957, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103230">Carmignac et al. (2012)</a> identified heterozygosity for a 103C-T transition in exon 1 of the SKI gene, resulting in a pro35-to-gln (P35Q) substitution at a conserved residue within the R-SMAD-binding domain. No aortic root dilation or valvular anomalies were reported in this patient. The mutation was not found in the dbSNP or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" 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 4-year-old girl and an unrelated 10-year-old girl with SGS, <a href="#12" class="mim-tip-reference" title="Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others. <strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong> Europ. J. Hum. Genet. 23: 224-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[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/ejhg.2014.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24736733">Schepers et al. (2015)</a> identified heterozygosity for a P35S substitution in the SKI gene. The mutation occurred de novo in both cases. Neither patient exhibited mitral valve prolapse, aortic root dilation, arterial tortuosity, or aneurysms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" 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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Amaravadi, L. S., Neff, A. W., Sleeman, J. P., Smith, R. C.
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<strong>Autonomous neural axis formation by ectopic expression of the protooncogene c-ski.</strong>
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Dev. Biol. 192: 392-404, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9441676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9441676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9441676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/dbio.1997.8780" target="_blank">Full Text</a>]
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Atanasoski, S., Notterpek, L., Lee, H.-Y., Castagner, F., Young, P., Ehrengruber, M. U., Meijer, D., Sommer, L., Stavnezer, E., Colmenares, C., Suter, U.
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<strong>The protooncogene Ski controls Schwann cell proliferation and myelination.</strong>
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Neuron 43: 499-511, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15312649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15312649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15312649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2004.08.001" target="_blank">Full Text</a>]
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Balazs, I., Grzeschik, K. H., Stavnezer, E.
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<strong>Assignment of the human homologue of a chicken oncogene to chromosome 1. (Abstract)</strong>
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Cytogenet. Cell Genet. 37: 410-411, 1984.
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Berk, M., Desai, S. Y., Heyman, H. C., Colmenares, C.
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<strong>Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development.</strong>
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Genes Dev. 11: 2029-2039, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9284043[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9284043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others.
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<strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong>
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Am. J. Hum. Genet. 91: 950-957, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chaganti, R. S. K., Balazs, I., Jhanwar, S. C., Murty, V. V. V. S., Koduru, P. R. K., Grzeschik, K.-H., Stavnezer, E.
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<strong>The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22-q24.</strong>
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Cytogenet. Cell Genet. 43: 181-186, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000132318" target="_blank">Full Text</a>]
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<strong>Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice.</strong>
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[<a href="https://doi.org/10.1038/ng770" target="_blank">Full Text</a>]
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<strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong>
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[<a href="https://doi.org/10.1038/ng.2421" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0925-4773(00)00351-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/17.14.5489" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12376748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12376748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12376748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100380200085" target="_blank">Full Text</a>]
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<a id="Schepers2015" class="mim-anchor"></a>
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Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others.
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<strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong>
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Europ. J. Hum. Genet. 23: 224-228, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24736733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24736733</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24736733[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24736733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2014.61" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/515520" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1204987" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)80201-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.4.9.1462" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(02)01006-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature24283" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 02/05/2018
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Marla J. F. O'Neill - updated : 12/4/2015<br>Marla J. F. O'Neill - updated : 12/10/2012<br>Marla J. F. O'Neill - updated : 10/5/2012<br>Patricia A. Hartz - updated : 5/12/2005<br>Victor A. McKusick - updated : 1/7/2003<br>Stylianos E. Antonarakis - updated : 11/26/2002<br>Victor A. McKusick - updated : 1/24/2002<br>Victor A. McKusick - updated : 1/14/2002<br>Stylianos E. Antonarakis - updated : 11/19/1999
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Victor A. McKusick : 6/23/1986
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carol : 07/12/2019<br>alopez : 02/16/2018<br>alopez : 02/05/2018<br>alopez : 03/08/2016<br>alopez : 12/4/2015<br>carol : 3/18/2013<br>carol : 12/10/2012<br>alopez : 11/13/2012<br>carol : 10/5/2012<br>terry : 10/5/2012<br>carol : 7/13/2005<br>ckniffin : 7/1/2005<br>wwang : 5/20/2005<br>wwang : 5/16/2005<br>terry : 5/12/2005<br>tkritzer : 1/5/2004<br>cwells : 1/8/2003<br>tkritzer : 1/7/2003<br>mgross : 11/26/2002<br>terry : 3/11/2002<br>carol : 1/24/2002<br>terry : 1/24/2002<br>alopez : 1/16/2002<br>terry : 1/14/2002<br>mgross : 11/19/1999<br>alopez : 5/12/1999<br>mark : 6/9/1996<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 10/9/1989<br>root : 3/6/1989<br>marie : 3/25/1988
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<h3>
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<span class="mim-font">
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<strong>*</strong> 164780
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SKI PROTOONCOGENE; SKI
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</span>
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</h3>
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</div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG<br />
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ONCOGENE SK, CHICKEN VIRAL<br />
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SK ONCOGENE; SKI
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SKI</em></strong>
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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>SNOMEDCT:</strong> 719069008;
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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: 1p36.33-p36.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:2,228,319-2,310,213 </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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<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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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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1p36.33-p36.32
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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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Shprintzen-Goldberg syndrome
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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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182212
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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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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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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>Nomura et al. (1989) isolated human cDNA clones of SKI and a SKI-related gene, SNO (165340). </p><p>Doyle et al. (2012) performed a developmental survey of SKI expression in wildtype mice and observed that at embryonic day 13.5, SKI protein was robustly expressed throughout the vessel wall in the proximal ascending aorta with less expression in the descending segment and was localized to both the cytoplasm and nucleus. At birth, aortic expression was somewhat reduced, and SKI was predominantly localized to the cytoplasm. In adult mice (postnatal day 90), SKI expression was further reduced in the medial layer of the aortic root, with exclusive cytoplasmic localization; in the more distal ascending aorta, SKI expression was largely absent from the central zone of the aortic media, despite some residual expression in the intimal and adventitial layers. Doyle et al. (2012) suggested that SKI might be predominantly required in the very proximal aorta at early stages of development for the proper regulation of TGF-beta signaling within the arterial media. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</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>Wu et al. (2002) determined the crystal structure of the SMAD4 (600993)-binding domain of SKI in complex with the MH2 domain of SMAD4 at 2.85-angstrom resolution. The structure revealed specific recognition of the SMAD4 L3 loop region by a highly conserved interaction loop (I loop) from SKI. The SKI-binding surface on SMAD4 was found to significantly overlap with that required for binding of the receptor-mediated SMADs (R-SMADs). Indeed, SKI disrupted the formation of a functional complex between the comediator SMADs (Co-SMADs) and R-SMADs, explaining how it could lead to repression of TGF-beta, activin (see 147390), and bone morphogenetic protein (see 112264) responses. The structure of the SKI fragment, stabilized by a bound zinc atom, resembled the SAND domain found in transcription factors and other nuclear proteins, in which the corresponding I loop is responsible for DNA binding. </p>
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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>Shinagawa et al. (2001) mapped the SKI gene to chromosome 1p36.3. Colmenares et al. (2002) confirmed the location of the gene in distal 1p36.3. </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>Transforming growth factor-beta (TGFB1; 190180) treatment of cells induces a variety of physiologic responses, including growth inhibition, differentiation, and induction of apoptosis. TGFB1 induces phosphorylation and nuclear translocation of SMAD3 (603109). Sun et al. (1999) described the association of SMAD3 with the nuclear protooncogene protein SKI in response to the activation of TGFB1 signaling. Association with SKI repressed transcriptional activation by SMAD3, and overexpression of SKI rendered cells resistant to the growth-inhibitory effects of TGFB1. The transcriptional repression as well as the growth resistance to TGFB1 by overexpression of SKI could be overcome by overexpression of SMAD3. These results demonstrated that SKI is a novel component of the TGFB1 signaling pathway and shed light on the mechanism of action of the SKI oncoprotein. </p><p>Experiments involving overexpression of Ski suggest that this gene is involved in neural tube development and muscle differentiation (Sutrave et al., 1990; Amaravadi et al., 1997; Kaufman et al., 2000). Ski -/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass (Berk et al., 1997). Colmenares et al. (2002) showed that the penetrance and expressivity of the Ski -/- phenotype changes when the null mutation is backcrossed into the C57BL6/J background, with the principal change involving a switch from a neural tube defect to midline facial clefting. Other defects, including depressed nasal bridge, eye abnormalities, skeletal muscle defects, and digital abnormalities, show increased penetrance in the C57BL6/J background. Of note, these phenotypes resemble some of the features observed in individuals with 1p36 deletion syndrome (607872) (Shapira et al., 1997; Slavotinek et al., 1999). These similarities prompted Colmenares et al. (2002) to examine the chromosomal location of human SKI and to determine whether SKI is included in the deletions of 1p36. They found that human SKI indeed is located at distal 1p36.3 and was deleted in all of the individuals tested to that time who had the 1p36 deletion syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting. </p><p>Shinagawa et al. (2001) also mapped the SKI gene to 1p36.3 and determined its relationship to the p73 tumor suppressor gene (TP73; 601990) which also maps to 1p36. They showed that loss of 1 copy of c-ski increases susceptibility to tumorigenesis in mice. When challenged with a chemical carcinogen, c-ski heterozygous mice showed an increased level of tumor formation relative to wildtype mice. In addition, c-ski-deficient mouse embryonic fibroblasts had increased proliferative capacity, whereas overexpression of c-ski suppressed the proliferation. </p><p>Okamoto et al. (2002) found that the SKI gene was deleted in a Japanese girl with the 1p36 deletion syndrome with manifestations of congenital fiber-type disproportion myopathy (CFTD; 255310) and dilated cardiomyopathy. </p><p>Atanasoski et al. (2004) found that overexpression of human SKI in cultured rodent Schwann cells inhibited TGFB1-mediated proliferation and prevented growth-arrested cells from reentering the cell cycle. Ski was upregulated in myelinating Schwann cells cocultured with dorsal root ganglion neurons, in myelinating mouse Schwann cells in vivo, and during remyelination after injury. Myelination was blocked in myelin-competent cultures derived from Ski-deficient mice, and genes encoding myelin components were downregulated in Ski-deficient nerves. Conversely, overexpression of Ski in Schwann cells caused an upregulation of myelin-related genes. Ski and Oct6 (602479), a transcription factor involved in myelination, appeared to mutually regulate each other. Atanasoski et al. (2004) concluded that expression of SKI is regulated by axon-Schwann cell interactions and that SKI is a crucial signal in Schwann cell development and myelination. </p><p>Zhang et al. (2017) demonstrated that TGF-beta enables TH17 cell differentiation by reversing SKI-SMAD4 (600993)-mediated suppression of the retinoic acid receptor (RAR)-related orphan receptor ROR-gamma-t (RORC; 602943). Zhang et al. (2017) found that, unlike wildtype T cells, SMAD4-deficient T cells differentiate into TH17 cells in the absence of TGF-beta signaling in a RORC-dependent manner. Ectopic SMAD4 expression suppresses RORC expression and TH17 cell differentiation of SMAD4-deficient T cells. However, TGF-beta neutralizes SMAD4-mediated suppression without affecting SMAD4 binding to the RORC locus. Proteomic analysis revealed that SMAD4 interacts with SKI, a transcriptional repressor that is degraded upon TGF-beta stimulation. SKI controls histone acetylation and deacetylation of the RORC locus and TH17 cell differentiation via SMAD4: ectopic SKI expression inhibits H3K9 acetylation of the RORC locus, RORC expression, and TH17 cell differentiation in a SMAD4-dependent manner. Therefore, Zhang et al. (2017) concluded that TGF-beta-induced disruption of SKI reverses SKI-SMAD4-mediated suppression of ROR-gamma-t to enable TH17 cell differentiation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 10 of 12 sporadic patients with Shprintzen-Goldberg syndrome (SGS; 182212), Doyle et al. (2012) identified de novo heterozygous mutations in the SKI gene, including 8 missense mutations and one 9-bp deletion (see, e.g., 164780.0001-164780.0005). Cultured dermal fibroblasts from affected individuals showed enhanced activation of TGF-beta signaling cascades and higher expression of TGF-beta-responsive genes relative to control cells. </p><p>In 18 of 19 patients from 13 families with characteristic features of SGS, including 5 affected individuals over 3 generations in 1 family and another family in which 3 sibs were affected, Carmignac et al. (2012) identified heterozygosity for 2 different in-frame deletions and 10 missense mutations in the SKI gene (see, e.g., 164780.0002, 164780.0004, 164780.0005, and 164780.0007-164780.0010). All of the mutations were located in exon 1 of the SKI gene, within the R-SMAD-binding domain. No SKI mutations were found in a cohort of 11 patients with other marfanoid craniosynostosis syndromes. </p><p>Schepers et al. (2015) analyzed the SKI gene in 19 patients with clinically suspected SGS and identified 8 recurrent and 3 novel mutations in 11 patients (see, e.g., 164780.0002-164780.0004, 164780.0007; 164780.0010). The authors stated that their findings, in combination with previously reported data, clearly show a mutational hotspot in the SKI gene, with 24 (73%) of 33 unrelated patients having mutations within a stretch of 5 residues (from ser31 to pro35). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Doyle et al. (2012) generated zebrafish with morpholino-based knockdown of the 2 paralogs of mammalian SKI (skia and skib), and observed mutant embryos with marked craniofacial cartilage deficits, including shortened and flat Meckel cartilage, irregular lengths of palatoquadrates, shortened ceratohyales, and depleted ceratobranchial arches. These deficits manifested in larval fish as maxillary hypoplasia, malformed ethmoid plate, micrognathia, and microcephaly, and were frequently accompanied by ocular hypertelorism and spinal malformation. In addition, the skia- and skib-morphant embryos showed severe cardiac anomalies, characterized by partial to complete failure in cardiac looping and malformations of the outflow tract. Doyle et al. (2012) noted that in comparison to Ski-null mice, the zebrafish morphants more closely recapitulated the human craniofacial phenotype of Shprintzen-Goldberg syndrome. </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>History</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>Balazs et al. (1984) mapped the SK (for Sloan-Kettering) chicken viral oncogene to 1q12-qter. By in situ hybridization, Chaganti et al. (1986) regionalized the SKI gene to 1q22-q24. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, GLY116GLU
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<br />
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SNP: rs387907303,
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ClinVar: RCV000030816
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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 43-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a de novo 347G-A transition in exon 1 of the SKI gene, resulting in a gly116-to-glu (G116E) substitution at a highly conserved residue in an exposed beta hairpin loop in the DHD domain. The mutation was not found in her unaffected parents or in SNP databases. </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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, LEU32VAL
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<br />
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SNP: rs387907304,
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gnomAD: rs387907304,
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ClinVar: RCV000030817, RCV001266120
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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 12-year-old boy and an unrelated 22-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a 94C-G transversion in exon 1 of the SKI gene, resulting in a leu32-to-val (L32V) substitution at a highly conserved residue in the SMAD2 (601366)/3 (603109)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. </p><p>In 3 unrelated patients with SGS, Carmignac et al. (2012) identified heterozygosity for the L32V mutation in the SKI gene. One of the patients, a 32-year-old man, had aortic root dilation, mitral valve prolapse, and mitral insufficiency. </p><p>In a 50-year-old man with SGS, Schepers et al. (2015) identified heterozygosity for the L32V mutation in the SKI gene. The patient did not have mitral valve prolapse, aortic root dilation, or aneurysms. </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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, GLY34ASP
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<br />
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SNP: rs387907305,
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ClinVar: RCV000030818
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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 16-year-old boy with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a 101G-A transition in exon 1 of the SKI gene, resulting in a gly34-to-asp (G34D) substitution at a highly conserved residue in the SMAD2 (601366)/3 (603109)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. </p><p>In a sister and brother with SGS, Schepers et al. (2015) identified heterozygosity for the G34D substitution in the SKI gene. The mutation was not found in their unaffected parents, nor was there evidence for somatic mosaicism in the blood of the parents. Schepers et al. (2015) suggested that germline mosaicism was the most likely explanation for the occurrence of disease in 2 sibs from healthy parents. The 13-year-old boy exhibited aortic root dilation, whereas his 22-year-sister did not have any cardiovascular features. </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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, GLY34SER
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<br />
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SNP: rs387907306,
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ClinVar: RCV000030819, RCV000200686, RCV000624509
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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 21-year-old man with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a 100G-A transition in exon 1 of the SKI gene, resulting in a gly34-to-ser (G34S) substitution at a highly conserved residue in the SMAD2 (601366)/3 (603109)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. </p><p>In an 11-year-old girl with SGS, whose features included aortic root dilation and mitral valve prolapse, Carmignac et al. (2012) identified heterozygosity for the G34S mutation in the SKI gene. </p><p>In a 10-year-old boy with SGS, Schepers et al. (2015) identified heterozygosity for a de novo G34S substitution in the SKI gene. He did not exhibit mitral valve prolapse, aortic root dilation, arterial tortuosity, or aneurysms. </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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, GLY34CYS
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<br />
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SNP: rs387907306,
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ClinVar: RCV000030820, RCV000623016, RCV001532045
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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 2-year-old girl with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a 100G-T transversion in exon 1 of the SKI gene, resulting in a gly34-to-cys (G34C) substitution at a highly conserved residue in the SMAD2 (601366)/3 (603109)-binding domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or in more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. </p><p>In a 21-year-old woman with SGS, Carmignac et al. (2012) identified heterozygosity for the G34C mutation in the SKI gene. </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 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</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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SKI, 9-BP DEL, NT283
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<br />
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SNP: rs398122889,
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ClinVar: RCV000030821
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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 5-year-old boy with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Doyle et al. (2012) identified heterozygosity for a 9-bp deletion in exon 1 of the SKI gene (283_291del9), resulting in removal of 3 highly conserved residues (asp95-ser97del) in the DHD domain. The mutation was not found in dbSNP (build 134), the 1000 Genomes Project database, or more than 10,000 exomes reported on the National Heart, Lung, and Blood Institute Exome Variant Server. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</strong>
|
|
</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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SKI, GLY34VAL
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<br />
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SNP: rs387907305,
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ClinVar: RCV000033005
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 22-year-old female twins and their 20-year-old sister who had Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Carmignac et al. (2012) identified a heterozygous 101G-T transversion in exon 1 of the SKI gene, resulting in a gly34-to-val (G34V) substitution at a conserved residue within the R-SMAD-binding domain. The mother had the mutation in somatic mosaic state. The mutation was not found in the dbSNP or Exome Variant Server databases. </p><p>In a 44-year-old woman with SGS, Schepers et al. (2015) identified heterozygosity for the G34V substitution in the SKI gene. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
|
SKI, 12-BP DEL, NT280
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<br />
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|
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SNP: rs398122914,
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|
|
|
ClinVar: RCV000033006
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected individuals over 3 generations of a family with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Carmignac et al. (2012) identified heterozygosity for a 12-bp deletion (280_291delTCCGACCGCTCC) in exon 1 of the SKI gene, resulting in an in-frame deletion within the R-SMAD-binding domain. The mutation was not found in the dbSNP or Exome Variant Server databases. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKI, PRO35GLN
|
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|
|
|
<br />
|
|
|
|
SNP: rs397514589,
|
|
|
|
|
|
|
|
ClinVar: RCV000033007
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-year-old man with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Carmignac et al. (2012) identified heterozygosity for a 104C-A transversion in exon 1 of the SKI gene, resulting in a pro35-to-gln (P35Q) substitution at a conserved residue within the R-SMAD-binding domain. The patient had dilation of the aortic root requiring surgery at 16 years of age, and also had vertebrobasilar and internal carotid tortuosity, mitral valve prolapse, and a dilated pulmonary artery root. The mutation was not found in the dbSNP or Exome Variant Server databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKI, PRO35SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514590,
|
|
|
|
|
|
|
|
ClinVar: RCV000033008, RCV004018704
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-year-old woman with Shprintzen-Goldberg craniosynostosis syndrome (SGS; 182212), Carmignac et al. (2012) identified heterozygosity for a 103C-T transition in exon 1 of the SKI gene, resulting in a pro35-to-gln (P35Q) substitution at a conserved residue within the R-SMAD-binding domain. No aortic root dilation or valvular anomalies were reported in this patient. The mutation was not found in the dbSNP or Exome Variant Server databases. </p><p>In a 4-year-old girl and an unrelated 10-year-old girl with SGS, Schepers et al. (2015) identified heterozygosity for a P35S substitution in the SKI gene. The mutation occurred de novo in both cases. Neither patient exhibited mitral valve prolapse, aortic root dilation, arterial tortuosity, or aneurysms. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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|
</span>
|
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</h4>
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Amaravadi, L. S., Neff, A. W., Sleeman, J. P., Smith, R. C.
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<strong>Autonomous neural axis formation by ectopic expression of the protooncogene c-ski.</strong>
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Dev. Biol. 192: 392-404, 1997.
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[Full Text: https://doi.org/10.1006/dbio.1997.8780]
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Atanasoski, S., Notterpek, L., Lee, H.-Y., Castagner, F., Young, P., Ehrengruber, M. U., Meijer, D., Sommer, L., Stavnezer, E., Colmenares, C., Suter, U.
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<strong>The protooncogene Ski controls Schwann cell proliferation and myelination.</strong>
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Neuron 43: 499-511, 2004.
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[PubMed: 15312649]
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Balazs, I., Grzeschik, K. H., Stavnezer, E.
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<strong>Assignment of the human homologue of a chicken oncogene to chromosome 1. (Abstract)</strong>
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Cytogenet. Cell Genet. 37: 410-411, 1984.
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Berk, M., Desai, S. Y., Heyman, H. C., Colmenares, C.
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<strong>Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development.</strong>
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Genes Dev. 11: 2029-2039, 1997.
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[PubMed: 9284043]
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[Full Text: https://doi.org/10.1101/gad.11.16.2029]
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Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others.
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<strong>In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.</strong>
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Am. J. Hum. Genet. 91: 950-957, 2012.
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[PubMed: 23103230]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.10.002]
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<p class="mim-text-font">
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Chaganti, R. S. K., Balazs, I., Jhanwar, S. C., Murty, V. V. V. S., Koduru, P. R. K., Grzeschik, K.-H., Stavnezer, E.
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<strong>The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22-q24.</strong>
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Cytogenet. Cell Genet. 43: 181-186, 1986.
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[PubMed: 3026737]
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[Full Text: https://doi.org/10.1159/000132318]
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<p class="mim-text-font">
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Colmenares, C., Heilstedt, H. A., Shaffer, L. G., Schwartz, S., Berk, M., Murray, J. C., Stavnezer, E.
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<strong>Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski -/- mice.</strong>
|
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Nature Genet. 30: 106-109, 2002.
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[PubMed: 11731796]
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[Full Text: https://doi.org/10.1038/ng770]
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<p class="mim-text-font">
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Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., and 22 others.
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<strong>Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.</strong>
|
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Nature Genet. 44: 1249-1254, 2012.
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[PubMed: 23023332]
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[Full Text: https://doi.org/10.1038/ng.2421]
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<p class="mim-text-font">
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Kaufman, C. D., Martinez-Rodriguez, G., Hackett, P. B., Jr.
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<strong>Ectopic expression of c-ski disrupts gastrulation and neural patterning in zebrafish.</strong>
|
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Mech. Dev. 95: 147-162, 2000.
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[PubMed: 10906458]
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[Full Text: https://doi.org/10.1016/s0925-4773(00)00351-8]
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Nomura, N., Sasamoto, S., Ishii, S., Date, T., Matsui, M., Ishizaki, R.
|
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<strong>Isolation of human cDNA clones of SKI and the SKI-related gene, SNO.</strong>
|
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Nucleic Acids Res. 17: 5489-5500, 1989.
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[PubMed: 2762147]
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[Full Text: https://doi.org/10.1093/nar/17.14.5489]
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<li>
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<p class="mim-text-font">
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Okamoto, N., Toribe, Y., Nakajima, T., Okinaga, T., Kurosawa, K., Nonaka, I., Shimokawa, O., Matsumoto, N.
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<strong>A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.</strong>
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J. Hum. Genet. 47: 556-559, 2002.
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[PubMed: 12376748]
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[Full Text: https://doi.org/10.1007/s100380200085]
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., and 17 others.
|
|
<strong>The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.</strong>
|
|
Europ. J. Hum. Genet. 23: 224-228, 2015.
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[PubMed: 24736733]
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[Full Text: https://doi.org/10.1038/ejhg.2014.61]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shapira, S. K., McCaskill, C., Northrup, H., Spikes, A. S., Elder, F. F. B., Sutton, V. R., Korenberg, J. R., Greenberg, F., Shaffer, L. G.
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Shinagawa, T., Nomura, T., Colmenares, C., Ohira, M., Nakagawara, A., Ishii, S.
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Slavotinek, A., Shaffer, L. G., Shapira, S. K.
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<strong>Monosomy 1p36.</strong>
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Sutrave, P., Kelly, A. M., Hughes, S. H.
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<strong>ski can cause selective growth of skeletal muscle in transgenic mice.</strong>
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Wu, J.-W., Krawitz, A. R., Chai, J., Li, W., Zhang, F., Luo, K., Shi, Y.
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<strong>Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TFG-beta signaling.</strong>
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Zhang, S., Takaku, M., Zou, L., Gu, A., Chou, W., Zhang, G., Wu, B., Kong, Q., Thomas, S. Y., Serody, J. S., Chen, X., Xu, X., Wade, P. A., Cook, D. N., Ting, J. P. Y., Wan, Y. Y.
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Ada Hamosh - updated : 02/05/2018<br>Marla J. F. O'Neill - updated : 12/4/2015<br>Marla J. F. O'Neill - updated : 12/10/2012<br>Marla J. F. O'Neill - updated : 10/5/2012<br>Patricia A. Hartz - updated : 5/12/2005<br>Victor A. McKusick - updated : 1/7/2003<br>Stylianos E. Antonarakis - updated : 11/26/2002<br>Victor A. McKusick - updated : 1/24/2002<br>Victor A. McKusick - updated : 1/14/2002<br>Stylianos E. Antonarakis - updated : 11/19/1999
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