3426 lines
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3426 lines
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- *164975 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
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- OMIM
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<p>
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<span class="h4">*164975</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/164975">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000114251;t=ENST00000264634" 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=7474" 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=164975" 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=ENSG00000114251;t=ENST00000264634" 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_001256105,NM_001377271,NM_001377272,NM_003392,XM_011534086,XM_011534088,XM_011534089,XM_017007127,XM_017007128,XM_047448852,XM_047448853,XM_047448854,XM_047448855,XM_047448856,XM_047448857,XM_047448858,XM_047448859,XM_047448860,XM_047448861,XM_047448862" 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_003392" 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=164975" 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=01293&isoform_id=01293_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/WNT5A" 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/348918,40352783,50959709,56743940,116832923,119585714,119585715,158255174,158261773,193786868,212276478,227286579,237677992,308219650,371502087,767924221,767924225,767924227,1034635373,1034635376,1786986072,1786986095,1830522612,2217345849,2217345852,2217345854,2217345856,2217345858,2217345860,2217345862,2217345864,2217345866,2217345868,2217345870,2462592361,2462592363,2462592365,2462592367,2462592369,2462592371,2462592373,2462592375,2462592377" 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/P41221" 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=7474" 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=ENSG00000114251;t=ENST00000264634" 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=WNT5A" 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=WNT5A" 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+7474" 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/WNT5A" 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:7474" 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/7474" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000472238.1&hgg_start=55465715&hgg_end=55505263&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12784" 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/wnt5a" 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=164975[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=164975[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000114251" 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=WNT5A" 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=WNT5A" 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=WNT5A" 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=WNT5A&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/PA37385" 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:12784" 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/FBgn0010194.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:98958" 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/WNT5A#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:98958" 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/7474/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=7474" 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=WBGene00000858;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-060328-3" 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:7474" 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=WNT5A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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164975
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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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WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
ONCOGENE WNT5A
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WNT5A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WNT5A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/3/404?start=-3&limit=10&highlight=404">3p14.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:55465715-55505263&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:55,465,715-55,505,263</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/404?start=-3&limit=10&highlight=404">
|
|
3p14.3
|
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</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Robinow syndrome, autosomal dominant 1
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/180700"> 180700 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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/164975" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/164975" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The WNTs comprise a large class of secreted proteins that control essential developmental processes such as embryonic patterning, cell growth, migration, and differentiation. The well-known canonical WNT signaling pathway involves WNT proteins binding to Frizzled (see, e.g., FZD1; <a href="/entry/603408">603408</a>) receptors that induce beta-catenin (CTNNB1; <a href="/entry/116806">116806</a>) stabilization and entry into the nucleus, where it affects gene transcription. The WNT5A gene encodes a WNT protein involved in both the canonical and noncanonical signaling pathways, depending upon the receptor context (summary by <a href="#7" class="mim-tip-reference" title="Mikels, A. J., Nusse, R. <strong>Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.</strong> PLoS Biol. 4: e115, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602827</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602827[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/10.1371/journal.pbio.0040115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16602827">Mikels and Nusse, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using degenerate PCR and cDNA library screening to search for mouse genes related to Wnt1, <a href="#4" class="mim-tip-reference" title="Gavin, B. J., McMahon, J. A., McMahon, A. P. <strong>Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.</strong> Genes Dev. 4: 2319-2332, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2279700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2279700</a>] [<a href="https://doi.org/10.1101/gad.4.12b.2319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2279700">Gavin et al. (1990)</a> identified 6 new members of the Wnt gene family, including Wnt5a. The Wnt genes encode 38- to 43-kD cysteine-rich putative glycoproteins, which have features typical of secreted growth factors: a hydrophobic signal sequence and 21 conserved cysteine residues whose relative spacing is maintained. Northern blot analysis detected expression of Wnt5a in brain, lung, and heart. At least 5 distinct Wnt5a transcripts were observed, which <a href="#4" class="mim-tip-reference" title="Gavin, B. J., McMahon, J. A., McMahon, A. P. <strong>Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.</strong> Genes Dev. 4: 2319-2332, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2279700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2279700</a>] [<a href="https://doi.org/10.1101/gad.4.12b.2319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2279700">Gavin et al. (1990)</a> hypothesized were due to transcript variability 5-prime to the initiation methionine. In situ hybridization detected a complex spatial and temporal pattern of Wnt5a in the mouse, including expression in the developing central nervous system, limbs, facial processes, and the posterior region of the fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2279700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Clark, C. C., Cohen, I., Eichstetter, I., Cannizzaro, L. A., McPherson, J. D., Wasmuth, J. J., Iozzo, R. V. <strong>Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.</strong> Genomics 18: 249-260, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288227</a>] [<a href="https://doi.org/10.1006/geno.1993.1463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288227">Clark et al. (1993)</a> cloned and sequenced several overlapping cDNAs encoding approximately 4.1 kb of the human homolog of Wnt5A. Expression of the human gene, symbolized WNT5A, was detected only in neonatal heart and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288227" 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="#5" class="mim-tip-reference" title="He, X., Saint-Jeannet, J.-P., Wang, Y., Nathans, J., Dawid, I., Varmus, H. <strong>A member of the frizzled protein family mediating axis induction by Wnt-5A.</strong> Science 275: 1652-1654, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9054360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9054360</a>] [<a href="https://doi.org/10.1126/science.275.5306.1652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9054360">He et al. (1997)</a> showed that human frizzled-5 (<a href="/entry/601723">601723</a>) is a receptor for the Wnt5A ligand. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9054360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Mikels, A. J., Nusse, R. <strong>Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.</strong> PLoS Biol. 4: e115, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602827</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602827[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/10.1371/journal.pbio.0040115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16602827">Mikels and Nusse (2006)</a> demonstrated that mouse Wnt5a can inhibit canonical Wnt signaling via binding to the Ror2 (<a href="/entry/602337">602337</a>) receptor. However, Wnt5a also induced beta-catenin accumulation and signaling In the presence of Fzd4 (<a href="/entry/604579">604579</a>) and LRP5 (<a href="/entry/603506">603506</a>). The findings indicated that the outcome of WNT5A signaling is dependent upon the type of receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602827" 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="#16" class="mim-tip-reference" title="Witze, E. S., Litman, E. S., Argast, G. M., Moon, R. T., Ahn, N. G. <strong>Wnt5a control of cell polarity and directional movement by polarized redistribution of adhesion receptors.</strong> Science 320: 365-369, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420933</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18420933[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1151250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18420933">Witze et al. (2008)</a> demonstrated that acute responses to Wnt5a involve recruitment of actin, myosin IIB (<a href="/entry/160742">160742</a>), frizzled-3 (<a href="/entry/606143">606143</a>), and melanoma cell adhesion molecule (<a href="/entry/155735">155735</a>) into an intracellular structure in a melanoma cell line. In the presence of a chemokine gradient, this Wnt-mediated receptor-actin-myosin polarity structure accumulates asymmetrically at the cell periphery, where it triggers membrane contractility and nuclear movement in the direction of membrane retraction. The process requires endosome trafficking, is associated with multivesicular bodies, and is regulated by Wnt5a through the small guanosine triphosphates Rab4 (<a href="/entry/179511">179511</a>) and RhoB (<a href="/entry/165370">165370</a>). Thus, <a href="#16" class="mim-tip-reference" title="Witze, E. S., Litman, E. S., Argast, G. M., Moon, R. T., Ahn, N. G. <strong>Wnt5a control of cell polarity and directional movement by polarized redistribution of adhesion receptors.</strong> Science 320: 365-369, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420933</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18420933[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1151250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18420933">Witze et al. (2008)</a> concluded that cell-autonomous mechanisms allow Wnt5a to control cell orientation, polarity, and directional movement in response to positional cues from chemokine gradients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18420933" 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="#18" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> found that downregulation of Dvl (DVL1; <a href="/entry/601365">601365</a>) abrogated axon differentiation in cultured embryonic rat hippocampal neurons, whereas overexpression of Dvl resulted in multiple axon formation. A complex of PAR3 (PARD3; <a href="/entry/606745">606745</a>), PAR6 (PARD6A; <a href="/entry/607484">607484</a>), and an atypical protein kinase C (aPKC), such as PKC-zeta (PRKCZ; <a href="/entry/176982">176982</a>), is required for axon-dendrite differentiation, and <a href="#18" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> found that Dvl associated with Pkc-zeta in rat brain and transfected human embryonic kidney cells. The interaction of Dvl with Pkc-zeta resulted in stabilization and activation of Pkc-zeta. Expression of dominant-negative Pkc-zeta attenuated multiple axon formation due to Dvl overexpression in neurons, and overexpression of Pkc-zeta prevented axon loss due to Dvl downregulation. Wnt5a activated Pkc-zeta and promoted axon differentiation, and downregulation of Dvl or inhibition of Pkc-zeta attenuated the Wnt5a effect on axon differentiation. <a href="#18" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> concluded that WNT5A and DVL promote axon differentiation mediated by the PAR3-PAR6-aPKC complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558396" 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="#15" class="mim-tip-reference" title="Stefater, J. A., III, Lewkowich, I., Rao, S., Mariggi, G., Carpenter, A. C., Burr, A. R., Fan, J., Ajima, R., Molkentin, J. D., Williams, B. O., Wills-Karp, M., Pollard, J. W., Yamaguchi, T., Ferrara, N., Gerhardt, H., Lang, R. A. <strong>Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.</strong> Nature 474: 511-515, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623369[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/nature10085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623369">Stefater et al. (2011)</a> showed that during development, retinal myeloid cells produce Wnt ligands to regulate blood vessel branching. In the mouse retina, where angiogenesis occurs postnatally, somatic deletion in retinal myeloid cells of the Wnt ligand transporter Wntless (<a href="/entry/611574">611574</a>) results in increased angiogenesis in the deeper layers. <a href="#15" class="mim-tip-reference" title="Stefater, J. A., III, Lewkowich, I., Rao, S., Mariggi, G., Carpenter, A. C., Burr, A. R., Fan, J., Ajima, R., Molkentin, J. D., Williams, B. O., Wills-Karp, M., Pollard, J. W., Yamaguchi, T., Ferrara, N., Gerhardt, H., Lang, R. A. <strong>Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.</strong> Nature 474: 511-515, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623369[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/nature10085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623369">Stefater et al. (2011)</a> also showed that mutation of Wnt5a and Wnt11 (<a href="/entry/603699">603699</a>) results in increased angiogenesis and that these ligands elicit retinal myeloid cell responses via a noncanonical Wnt pathway. Using cultured myeloid-like cells and retinal myeloid cell somatic deletion of Flt1 (<a href="/entry/165070">165070</a>), <a href="#15" class="mim-tip-reference" title="Stefater, J. A., III, Lewkowich, I., Rao, S., Mariggi, G., Carpenter, A. C., Burr, A. R., Fan, J., Ajima, R., Molkentin, J. D., Williams, B. O., Wills-Karp, M., Pollard, J. W., Yamaguchi, T., Ferrara, N., Gerhardt, H., Lang, R. A. <strong>Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.</strong> Nature 474: 511-515, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623369[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/nature10085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623369">Stefater et al. (2011)</a> showed that Flt1, a naturally occurring inhibitor of VEGF (<a href="/entry/192240">192240</a>), is an effector of Wnt-dependent suppression of angiogenesis by retinal myeloid cells. <a href="#15" class="mim-tip-reference" title="Stefater, J. A., III, Lewkowich, I., Rao, S., Mariggi, G., Carpenter, A. C., Burr, A. R., Fan, J., Ajima, R., Molkentin, J. D., Williams, B. O., Wills-Karp, M., Pollard, J. W., Yamaguchi, T., Ferrara, N., Gerhardt, H., Lang, R. A. <strong>Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.</strong> Nature 474: 511-515, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623369[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/nature10085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623369">Stefater et al. (2011)</a> concluded that resident myeloid cells can use a noncanonical, Wnt-Flt1 pathway to suppress angiogenic branching. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21623369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Miyoshi, H., Ajima, R., Luo, C. T., Yamaguchi, T. P., Stappenbeck, T. S. <strong>Wnt5a potentiates TGF-beta signaling to promote colonic crypt regeneration after tissue injury.</strong> Science 338: 108-113, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22956684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22956684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22956684[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1223821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22956684">Miyoshi et al. (2012)</a> found that Wnt5a, a noncanonical Wnt ligand, was required for intestinal crypt regeneration after injury in mice. Unlike controls, Wnt5a-deficient mice maintained an expanded population of proliferative epithelial cells in the wound. <a href="#9" class="mim-tip-reference" title="Miyoshi, H., Ajima, R., Luo, C. T., Yamaguchi, T. P., Stappenbeck, T. S. <strong>Wnt5a potentiates TGF-beta signaling to promote colonic crypt regeneration after tissue injury.</strong> Science 338: 108-113, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22956684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22956684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22956684[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1223821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22956684">Miyoshi et al. (2012)</a> used an in vitro system to enrich for intestinal epithelial stem cells to discover that Wnt5a inhibits proliferation of these cells. Surprisingly, the effects of Wnt5a were mediated by activation of TGF-beta (<a href="/entry/190180">190180</a>) signaling. <a href="#9" class="mim-tip-reference" title="Miyoshi, H., Ajima, R., Luo, C. T., Yamaguchi, T. P., Stappenbeck, T. S. <strong>Wnt5a potentiates TGF-beta signaling to promote colonic crypt regeneration after tissue injury.</strong> Science 338: 108-113, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22956684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22956684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22956684[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1223821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22956684">Miyoshi et al. (2012)</a> concluded that their findings suggested a Wnt5a-dependent mechanism for forming new crypt units to reestablish homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22956684" 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="Florian, M. C., Nattamai, K. J., Dorr, K., Marka, G., Uberle, B., Vas, V., Eckl, C., Andra, I., Schiemann, M., Oostendorp, R. A. J., Scharffetter-Kochanek, K., Kestler, H. A., Zheng, Y., Geiger, H. <strong>A canonical to non-canonical Wnt signalling switch in haematopoietic stem-cell ageing.</strong> Nature 503: 392-396, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24141946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24141946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24141946[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/nature12631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24141946">Florian et al. (2013)</a> reported an unexpected shift from canonical to noncanonical Wnt signaling in mice due to elevated expression of Wnt5a in aged hematopoietic stem cells (HSCs), which causes stem cell aging. Wnt5a treatment of young HSCs induced aging-associated stem cell apolarity, reduction of regenerative capacity, and an aging-like myeloid-lymphoid differentiation skewing via activation of the small Rho GTPase Cdc42 (<a href="/entry/116952">116952</a>). Conversely, Wnt5a haploinsufficiency attenuated HSC aging, whereas stem cell-intrinsic reduction of Wnt5a expression resulted in functionally rejuvenated aged HSCs. <a href="#2" class="mim-tip-reference" title="Florian, M. C., Nattamai, K. J., Dorr, K., Marka, G., Uberle, B., Vas, V., Eckl, C., Andra, I., Schiemann, M., Oostendorp, R. A. J., Scharffetter-Kochanek, K., Kestler, H. A., Zheng, Y., Geiger, H. <strong>A canonical to non-canonical Wnt signalling switch in haematopoietic stem-cell ageing.</strong> Nature 503: 392-396, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24141946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24141946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24141946[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/nature12631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24141946">Florian et al. (2013)</a> concluded that the data demonstrated a critical role for stem cell-intrinsic noncanonical Wnt5a signaling in HSC aging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24141946" 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="Miyamoto, D. T., Zheng, Y., Wittner, B. S., Lee, R. J., Zhu, H., Broderick, K. T., Desai, R., Fox, D. B., Brannigan, B. W., Trautwein, J., Arora, K. S., Desai, N., and 11 others. <strong>RNA-seq of single prostate CTCs implicates noncanonical Wnt signaling in antiandrogen resistance.</strong> Science 349: 1351-1365, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26383955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26383955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26383955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aab0917" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26383955">Miyamoto et al. (2015)</a> established single-cell RNA sequencing profiles of 77 intact circulating tumor cells (CTCs) isolated from 13 patients (mean 6 CTCs per patient) with prostate cancer (see <a href="/entry/176807">176807</a>), by using microfluidic enrichment. Single CTCs from each individual displayed considerable heterogeneity, including expression of androgen receptor (AR; <a href="/entry/313700">313700</a>) gene mutations and splicing variants. Retrospective analysis of CTCs from patients progressing under treatment with an AR inhibitor, compared with untreated cases, indicated activation of noncanonical Wnt signaling (p = 0.0064). Ectopic expression of Wnt5a in prostate cancer cells attenuated the antiproliferative effect of AR inhibition, whereas its suppression in drug-resistant cells restored partial sensitivity, a correlation also evident in an established mouse model. Thus, single-cell analysis of prostate CTCs reveals heterogeneity in signaling pathways that could contribute to treatment failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26383955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a combination of Southern blotting, PCR amplification, and in situ hybridization, <a href="#1" class="mim-tip-reference" title="Clark, C. C., Cohen, I., Eichstetter, I., Cannizzaro, L. A., McPherson, J. D., Wasmuth, J. J., Iozzo, R. V. <strong>Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.</strong> Genomics 18: 249-260, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288227</a>] [<a href="https://doi.org/10.1006/geno.1993.1463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288227">Clark et al. (1993)</a> mapped the WNT5A gene to 3p21-p14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288227" 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>Autosomal dominant Robinow syndrome-1 (DRS1; <a href="/entry/180700">180700</a>) is characterized by hypertelorism, craniofacial dysmorphism, short stature, and mesomelic shortening of the limbs. Noting that Wnt5a-null mice exhibit features of Robinow syndrome and that WNT5A interacts with ROR2 (<a href="/entry/602337">602337</a>), which is mutated in autosomal recessive Robinow syndrome (RRS; <a href="/entry/268310">268310</a>), <a href="#11" class="mim-tip-reference" title="Person, A. D., Beiraghi, S., Sieben, C. M., Hermanson, S., Neumann, A. N., Robu, M. E., Schleiffarth, J. R., Billington, C. J., Jr., van Bokhoven, H., Hoogeboom, J. M., Mazzeu, J. F., Petryk, A., Schimmenti, L. A., Brunner, H. G., Ekker, S. C., Lohr, J. L. <strong>WNT5A mutations in patients with autosomal dominant Robinow syndrome.</strong> Dev. Dyn. 239: 327-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19918918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19918918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19918918[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/10.1002/dvdy.22156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19918918">Person et al. (2010)</a> analyzed the WNT5A gene in affected members of the family with autosomal dominant Robinow syndrome originally reported by <a href="#12" class="mim-tip-reference" title="Robinow, M., Silverman, F. N., Smith, H. D. <strong>A newly recognized dwarfing syndrome.</strong> Am. J. Dis. Child. 117: 645-651, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5771504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5771504</a>] [<a href="https://doi.org/10.1001/archpedi.1969.02100030647005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5771504">Robinow et al. (1969)</a> and identified a pathogenic heterozygous mutation (C182R; <a href="#0001">164975.0001</a>). A different heterozygous mutation in the WNT5A gene (C83S; <a href="#0002">164975.0002</a>) was found in an unrelated patient with sporadic occurrence of the disorder. Mutations in the WNT5A gene were not found in 23 additional unrelated patients with a clinical diagnosis of dominant Robinow syndrome, suggesting genetic heterogeneity. Functional expression assays in zebrafish embryos showed that the mutant proteins represented hypomorphic alleles rather than dominant-negative mutations. The findings implicated the WNT5A/ROR2 pathway in human craniofacial, skeletal, and genital development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19918918+5771504" 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 affected members of 3 families with autosomal dominant Robinow syndrome, <a href="#13" class="mim-tip-reference" title="Roifman, M., Marcelis, C. L. M., Paton, T., Marshall, C., Silver, R., Lohr, J. L., Yntema, H. G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., FORGE Canada Consortium, Brunner, H. G., Chitayat, D. <strong>De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.</strong> Clin. Genet. 87: 34-41, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716670</a>] [<a href="https://doi.org/10.1111/cge.12401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716670">Roifman et al. (2015)</a> identified 2 different heterozygous missense mutations in the WNT5A gene (Y86C, <a href="#0003">164975.0003</a> and C69Y, <a href="#0004">164975.0004</a>). The mutation in the first family was found by whole-exome sequencing. Functional studies of the variants were not performed, but molecular modeling indicated that all 4 mutations found to date, including those reported by <a href="#11" class="mim-tip-reference" title="Person, A. D., Beiraghi, S., Sieben, C. M., Hermanson, S., Neumann, A. N., Robu, M. E., Schleiffarth, J. R., Billington, C. J., Jr., van Bokhoven, H., Hoogeboom, J. M., Mazzeu, J. F., Petryk, A., Schimmenti, L. A., Brunner, H. G., Ekker, S. C., Lohr, J. L. <strong>WNT5A mutations in patients with autosomal dominant Robinow syndrome.</strong> Dev. Dyn. 239: 327-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19918918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19918918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19918918[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/10.1002/dvdy.22156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19918918">Person et al. (2010)</a>, occurred on 1 side of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19918918+24716670" 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="#10" class="mim-tip-reference" title="Oishi, I., Suzuki, H., Onishi, N., Takada, R., Kani, S., Ohkawara, B., Koshida, I., Suzuki, K., Yamada, G., Schwabe, G. C., Mundlos, S., Shibuya, H., Takada, S., Minami, Y. <strong>The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.</strong> Genes Cells 8: 645-654, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12839624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12839624</a>] [<a href="https://doi.org/10.1046/j.1365-2443.2003.00662.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12839624">Oishi et al. (2003)</a> found that both Wnt5a-null and Ror2 (<a href="/entry/602337">602337</a>)-null mice showed dwarfism, facial abnormalities, short limbs and tails, dysplasia of lungs and genitals, and ventricular septal defects. In vitro binding assays revealed that Wnt5a binds to the Ror2 and activates the noncanonical Wnt pathway. The findings indicated that Wnt5a and Ror2 interact physically and functionally, and suggested that Ror2 acts as a receptor for Wnt5a to activate noncanonical Wnt signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12839624" 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>Wnt5a -/- mice are grossly abnormal and die shortly after birth due to multiple defects (<a href="#17" class="mim-tip-reference" title="Yamaguchi, T. P., Bradley, A., McMahon, A. P., Jones, S. <strong>A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo.</strong> Development 126: 1211-1223, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10021340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10021340</a>] [<a href="https://doi.org/10.1242/dev.126.6.1211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10021340">Yamaguchi et al., 1999</a>). <a href="#14" class="mim-tip-reference" title="Schleiffarth, J. R., Person, A. D., Martinsen, B. J., Sukovich, D. J., Neumann, A., Baker, C. V. H., Lohr, J. L., Cornfield, D. N., Ekker, S. C., Petryk, A. <strong>Wnt5a is required for cardiac outflow tract septation in mice.</strong> Pediat. Res. 61: 386-391, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515859</a>] [<a href="https://doi.org/10.1203/pdr.0b013e3180323810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515859">Schleiffarth et al. (2007)</a> found 100% penetrance of cardiac outflow tract abnormalities in 19 Wnt5a -/- mice, including persistent truncus arteriosus, double-outlet right ventricle, transposition of the great arteries, large subarterial ventricular septal defect, and several abnormalities of the aortic arch. Wnt5a was expressed in pharyngeal mesoderm in normal mouse embryos at embryonic days 9.5 and 10.5, and in myocardial cell layer of the conotruncus at day 10.5. By day 11.5, Wnt5a was expressed in paratracheal and parapharyngeal mesenchyme. A similar expression pattern was detected in the developing quail. Wnt5a deletion did not affect formation of the secondary or anterior heart field or initiation of migration of cardiac neural crest (CNC) cells. However, it did reduce expression of plexin A2 (PLXNA2; <a href="/entry/601054">601054</a>) at a time when CNC cell-derived mesenchyme condenses to form an aortopulmonary septum. Treatment of cultured chicken CNC cells with Wnt5a elicited calcium transients, suggesting that Wnt5a is involved in the calcium, but not planar cell polarity, signaling pathway. <a href="#14" class="mim-tip-reference" title="Schleiffarth, J. R., Person, A. D., Martinsen, B. J., Sukovich, D. J., Neumann, A., Baker, C. V. H., Lohr, J. L., Cornfield, D. N., Ekker, S. C., Petryk, A. <strong>Wnt5a is required for cardiac outflow tract septation in mice.</strong> Pediat. Res. 61: 386-391, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515859</a>] [<a href="https://doi.org/10.1203/pdr.0b013e3180323810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515859">Schleiffarth et al. (2007)</a> concluded that WNT5A acts as a local morphogen that signals to CNC cells as they reorganize to form the aortopulmonary septum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17515859+10021340" 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>Metacarpals in the synpolydactyly homolog (spdh) mouse, which carries a mutation in the Hoxd13 (<a href="/entry/142989">142989</a>) homeobox gene, are transformed to carpal-like bones with cuboid shape that lack cortical bone and perichondrium and are surrounded by a joint surface. <a href="#6" class="mim-tip-reference" title="Kuss, P., Kraft, K., Stumm, J., Ibrahim, D., Vallecillo-Garcia, P., Mundlos, S., Stricker, S. <strong>Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.</strong> Dev. Biol. 385: 83-93, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24161848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24161848</a>] [<a href="https://doi.org/10.1016/j.ydbio.2013.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24161848">Kuss et al. (2014)</a> found that metacarpal defects in spdh mice were due, at least in part, to defective Wnt5 signaling. Handplates of spdh embryos showed reduced expression of Wnt5a and Wnt5b, concomitant with defects in cell polarity in metacarpal growth plates and perichondrium. Visible defects in cell polarity were accompanied by increased staining for beta-catenin in the perichondral region of metacarpals. Exogenous Hoxd13 or Wnt5a partly rescued cell polarity defects in perichondrium of spdh mice. In vitro, Hoxd13, but not Hoxd13 with the spdh mutation, induced Wnt5a expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24161848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=164975[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906663 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906663;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=rs387906663" 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=rs387906663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 7 affected members of a family with autosomal dominant Robinow syndrome-1 (DRS1; <a href="/entry/180700">180700</a>) originally reported by <a href="#12" class="mim-tip-reference" title="Robinow, M., Silverman, F. N., Smith, H. D. <strong>A newly recognized dwarfing syndrome.</strong> Am. J. Dis. Child. 117: 645-651, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5771504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5771504</a>] [<a href="https://doi.org/10.1001/archpedi.1969.02100030647005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5771504">Robinow et al. (1969)</a>, <a href="#11" class="mim-tip-reference" title="Person, A. D., Beiraghi, S., Sieben, C. M., Hermanson, S., Neumann, A. N., Robu, M. E., Schleiffarth, J. R., Billington, C. J., Jr., van Bokhoven, H., Hoogeboom, J. M., Mazzeu, J. F., Petryk, A., Schimmenti, L. A., Brunner, H. G., Ekker, S. C., Lohr, J. L. <strong>WNT5A mutations in patients with autosomal dominant Robinow syndrome.</strong> Dev. Dyn. 239: 327-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19918918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19918918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19918918[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/10.1002/dvdy.22156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19918918">Person et al. (2010)</a> identified a heterozygous 544/545CT-TC change in exon 4 of the WNT5A gene, resulting in a cys182-to-arg (C182R) substitution at a highly conserved residue. The mutation segregated with the disorder in the family and was not found in 196 controls. Functional expression assays in zebrafish embryos showed that the mutant protein represented a hypomorphic allele rather than a dominant-negative mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19918918+5771504" 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">rs786200925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200925;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=rs786200925" 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=rs786200925" 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 man with sporadic Robinow syndrome-1 (DRS1; <a href="/entry/180700">180700</a>), <a href="#11" class="mim-tip-reference" title="Person, A. D., Beiraghi, S., Sieben, C. M., Hermanson, S., Neumann, A. N., Robu, M. E., Schleiffarth, J. R., Billington, C. J., Jr., van Bokhoven, H., Hoogeboom, J. M., Mazzeu, J. F., Petryk, A., Schimmenti, L. A., Brunner, H. G., Ekker, S. C., Lohr, J. L. <strong>WNT5A mutations in patients with autosomal dominant Robinow syndrome.</strong> Dev. Dyn. 239: 327-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19918918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19918918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19918918[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/10.1002/dvdy.22156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19918918">Person et al. (2010)</a> identified a heterozygous 248G-C transversion in exon 3 of the WNT5A gene, resulting in a cys83-to-ser (C83S) substitution in a highly conserved cysteine residue. The patient had marked hypertelorism, short nose, short stature, and mesomelic limb shortening. The mutation was not found in 173 control DNA samples. Functional expression assays in zebrafish embryos showed that the mutant protein represented a hypomorphic allele rather than a dominant-negative mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19918918" 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 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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">rs786204836 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204836;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=rs786204836" 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=rs786204836" 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 mother and son of Caucasian origin with autosomal dominant Robinow syndrome-1 (DRS1; <a href="/entry/180700">180700</a>), <a href="#13" class="mim-tip-reference" title="Roifman, M., Marcelis, C. L. M., Paton, T., Marshall, C., Silver, R., Lohr, J. L., Yntema, H. G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., FORGE Canada Consortium, Brunner, H. G., Chitayat, D. <strong>De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.</strong> Clin. Genet. 87: 34-41, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716670</a>] [<a href="https://doi.org/10.1111/cge.12401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716670">Roifman et al. (2015)</a> identified a heterozygous c.257A-G transition in the WNT5A gene, resulting in a tyr86-to-cys (Y86C) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, occurred as a de novo event in the mother. The same heterozygous Y86C mutation was subsequently found by direct sequencing in a Turkish father and daughter with the disorder. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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">rs786204837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204837;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=rs786204837" 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=rs786204837" 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=RCV000169741" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169741" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169741</a>
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<p>In a boy with autosomal dominant Robinow syndrome-1 (DRS1; <a href="/entry/180700">180700</a>), <a href="#13" class="mim-tip-reference" title="Roifman, M., Marcelis, C. L. M., Paton, T., Marshall, C., Silver, R., Lohr, J. L., Yntema, H. G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., FORGE Canada Consortium, Brunner, H. G., Chitayat, D. <strong>De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.</strong> Clin. Genet. 87: 34-41, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716670</a>] [<a href="https://doi.org/10.1111/cge.12401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716670">Roifman et al. (2015)</a> identified a de novo heterozygous c.206G-A transition in the WNT5A gene, resulting in a cys69-to-tyr (C69Y) substitution. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1126/science.1223821" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-2443.2003.00662.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1969.02100030647005" target="_blank">Full Text</a>]
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Roifman, M., Marcelis, C. L. M., Paton, T., Marshall, C., Silver, R., Lohr, J. L., Yntema, H. G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., FORGE Canada Consortium, Brunner, H. G., Chitayat, D.
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<strong>De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.</strong>
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Clin. Genet. 87: 34-41, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716670" 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/10.1111/cge.12401" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Schleiffarth2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schleiffarth, J. R., Person, A. D., Martinsen, B. J., Sukovich, D. J., Neumann, A., Baker, C. V. H., Lohr, J. L., Cornfield, D. N., Ekker, S. C., Petryk, A.
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<strong>Wnt5a is required for cardiac outflow tract septation in mice.</strong>
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Pediat. Res. 61: 386-391, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17515859" 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/10.1203/pdr.0b013e3180323810" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Stefater2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stefater, J. A., III, Lewkowich, I., Rao, S., Mariggi, G., Carpenter, A. C., Burr, A. R., Fan, J., Ajima, R., Molkentin, J. D., Williams, B. O., Wills-Karp, M., Pollard, J. W., Yamaguchi, T., Ferrara, N., Gerhardt, H., Lang, R. A.
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<strong>Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.</strong>
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Nature 474: 511-515, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623369[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=21623369" 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/nature10085" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Witze2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witze, E. S., Litman, E. S., Argast, G. M., Moon, R. T., Ahn, N. G.
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<strong>Wnt5a control of cell polarity and directional movement by polarized redistribution of adhesion receptors.</strong>
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Science 320: 365-369, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420933</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18420933[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=18420933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1151250" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Yamaguchi1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaguchi, T. P., Bradley, A., McMahon, A. P., Jones, S.
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<strong>A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo.</strong>
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Development 126: 1211-1223, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10021340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10021340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10021340" 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/10.1242/dev.126.6.1211" target="_blank">Full Text</a>]
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Zhang2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G.
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<strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong>
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Nature Cell Biol. 9: 743-754, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558396" 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/ncb1603" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 04/05/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/10/2015<br>Cassandra L. Kniffin - updated : 4/1/2015<br>Ada Hamosh - updated : 12/9/2013<br>Ada Hamosh - updated : 10/24/2012<br>Cassandra L. Kniffin - updated : 8/15/2011<br>Ada Hamosh - updated : 7/1/2011<br>Patricia A. Hartz - updated : 8/20/2010<br>Patricia A. Hartz - updated : 8/2/2010<br>Patricia A. Hartz - updated : 6/25/2008<br>Ada Hamosh - updated : 6/17/2008<br>Dawn Watkins-Chow - updated : 2/1/2002
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/1/1993
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/05/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 12/10/2015<br>alopez : 4/24/2015<br>ckniffin : 4/22/2015<br>carol : 4/3/2015<br>mcolton : 4/3/2015<br>ckniffin : 4/1/2015<br>alopez : 12/9/2013<br>alopez : 10/26/2012<br>terry : 10/24/2012<br>carol : 6/20/2012<br>alopez : 8/19/2011<br>ckniffin : 8/15/2011<br>alopez : 7/6/2011<br>alopez : 7/6/2011<br>terry : 7/1/2011<br>mgross : 9/1/2010<br>terry : 8/20/2010<br>mgross : 8/10/2010<br>terry : 8/2/2010<br>terry : 9/4/2009<br>mgross : 6/25/2008<br>alopez : 6/20/2008<br>terry : 6/17/2008<br>mgross : 4/23/2002<br>carol : 2/4/2002<br>terry : 2/1/2002<br>psherman : 11/21/1998<br>alopez : 10/22/1998<br>joanna : 9/4/1998<br>carol : 7/23/1998<br>dkim : 7/17/1998<br>mark : 7/3/1997<br>mark : 5/24/1997<br>mark : 1/9/1997<br>carol : 12/1/1993
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 164975
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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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WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ONCOGENE WNT5A
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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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<strong><em>HGNC Approved Gene Symbol: WNT5A</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 3p14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:55,465,715-55,505,263 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3p14.3
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<td>
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<span class="mim-font">
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Robinow syndrome, autosomal dominant 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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180700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The WNTs comprise a large class of secreted proteins that control essential developmental processes such as embryonic patterning, cell growth, migration, and differentiation. The well-known canonical WNT signaling pathway involves WNT proteins binding to Frizzled (see, e.g., FZD1; 603408) receptors that induce beta-catenin (CTNNB1; 116806) stabilization and entry into the nucleus, where it affects gene transcription. The WNT5A gene encodes a WNT protein involved in both the canonical and noncanonical signaling pathways, depending upon the receptor context (summary by Mikels and Nusse, 2006). </p>
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</span>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>Using degenerate PCR and cDNA library screening to search for mouse genes related to Wnt1, Gavin et al. (1990) identified 6 new members of the Wnt gene family, including Wnt5a. The Wnt genes encode 38- to 43-kD cysteine-rich putative glycoproteins, which have features typical of secreted growth factors: a hydrophobic signal sequence and 21 conserved cysteine residues whose relative spacing is maintained. Northern blot analysis detected expression of Wnt5a in brain, lung, and heart. At least 5 distinct Wnt5a transcripts were observed, which Gavin et al. (1990) hypothesized were due to transcript variability 5-prime to the initiation methionine. In situ hybridization detected a complex spatial and temporal pattern of Wnt5a in the mouse, including expression in the developing central nervous system, limbs, facial processes, and the posterior region of the fetus. </p><p>Clark et al. (1993) cloned and sequenced several overlapping cDNAs encoding approximately 4.1 kb of the human homolog of Wnt5A. Expression of the human gene, symbolized WNT5A, was detected only in neonatal heart and lung. </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>He et al. (1997) showed that human frizzled-5 (601723) is a receptor for the Wnt5A ligand. </p><p>Mikels and Nusse (2006) demonstrated that mouse Wnt5a can inhibit canonical Wnt signaling via binding to the Ror2 (602337) receptor. However, Wnt5a also induced beta-catenin accumulation and signaling In the presence of Fzd4 (604579) and LRP5 (603506). The findings indicated that the outcome of WNT5A signaling is dependent upon the type of receptor. </p><p>Witze et al. (2008) demonstrated that acute responses to Wnt5a involve recruitment of actin, myosin IIB (160742), frizzled-3 (606143), and melanoma cell adhesion molecule (155735) into an intracellular structure in a melanoma cell line. In the presence of a chemokine gradient, this Wnt-mediated receptor-actin-myosin polarity structure accumulates asymmetrically at the cell periphery, where it triggers membrane contractility and nuclear movement in the direction of membrane retraction. The process requires endosome trafficking, is associated with multivesicular bodies, and is regulated by Wnt5a through the small guanosine triphosphates Rab4 (179511) and RhoB (165370). Thus, Witze et al. (2008) concluded that cell-autonomous mechanisms allow Wnt5a to control cell orientation, polarity, and directional movement in response to positional cues from chemokine gradients. </p><p>Zhang et al. (2007) found that downregulation of Dvl (DVL1; 601365) abrogated axon differentiation in cultured embryonic rat hippocampal neurons, whereas overexpression of Dvl resulted in multiple axon formation. A complex of PAR3 (PARD3; 606745), PAR6 (PARD6A; 607484), and an atypical protein kinase C (aPKC), such as PKC-zeta (PRKCZ; 176982), is required for axon-dendrite differentiation, and Zhang et al. (2007) found that Dvl associated with Pkc-zeta in rat brain and transfected human embryonic kidney cells. The interaction of Dvl with Pkc-zeta resulted in stabilization and activation of Pkc-zeta. Expression of dominant-negative Pkc-zeta attenuated multiple axon formation due to Dvl overexpression in neurons, and overexpression of Pkc-zeta prevented axon loss due to Dvl downregulation. Wnt5a activated Pkc-zeta and promoted axon differentiation, and downregulation of Dvl or inhibition of Pkc-zeta attenuated the Wnt5a effect on axon differentiation. Zhang et al. (2007) concluded that WNT5A and DVL promote axon differentiation mediated by the PAR3-PAR6-aPKC complex. </p><p>Stefater et al. (2011) showed that during development, retinal myeloid cells produce Wnt ligands to regulate blood vessel branching. In the mouse retina, where angiogenesis occurs postnatally, somatic deletion in retinal myeloid cells of the Wnt ligand transporter Wntless (611574) results in increased angiogenesis in the deeper layers. Stefater et al. (2011) also showed that mutation of Wnt5a and Wnt11 (603699) results in increased angiogenesis and that these ligands elicit retinal myeloid cell responses via a noncanonical Wnt pathway. Using cultured myeloid-like cells and retinal myeloid cell somatic deletion of Flt1 (165070), Stefater et al. (2011) showed that Flt1, a naturally occurring inhibitor of VEGF (192240), is an effector of Wnt-dependent suppression of angiogenesis by retinal myeloid cells. Stefater et al. (2011) concluded that resident myeloid cells can use a noncanonical, Wnt-Flt1 pathway to suppress angiogenic branching. </p><p>Miyoshi et al. (2012) found that Wnt5a, a noncanonical Wnt ligand, was required for intestinal crypt regeneration after injury in mice. Unlike controls, Wnt5a-deficient mice maintained an expanded population of proliferative epithelial cells in the wound. Miyoshi et al. (2012) used an in vitro system to enrich for intestinal epithelial stem cells to discover that Wnt5a inhibits proliferation of these cells. Surprisingly, the effects of Wnt5a were mediated by activation of TGF-beta (190180) signaling. Miyoshi et al. (2012) concluded that their findings suggested a Wnt5a-dependent mechanism for forming new crypt units to reestablish homeostasis. </p><p>Florian et al. (2013) reported an unexpected shift from canonical to noncanonical Wnt signaling in mice due to elevated expression of Wnt5a in aged hematopoietic stem cells (HSCs), which causes stem cell aging. Wnt5a treatment of young HSCs induced aging-associated stem cell apolarity, reduction of regenerative capacity, and an aging-like myeloid-lymphoid differentiation skewing via activation of the small Rho GTPase Cdc42 (116952). Conversely, Wnt5a haploinsufficiency attenuated HSC aging, whereas stem cell-intrinsic reduction of Wnt5a expression resulted in functionally rejuvenated aged HSCs. Florian et al. (2013) concluded that the data demonstrated a critical role for stem cell-intrinsic noncanonical Wnt5a signaling in HSC aging. </p><p>Miyamoto et al. (2015) established single-cell RNA sequencing profiles of 77 intact circulating tumor cells (CTCs) isolated from 13 patients (mean 6 CTCs per patient) with prostate cancer (see 176807), by using microfluidic enrichment. Single CTCs from each individual displayed considerable heterogeneity, including expression of androgen receptor (AR; 313700) gene mutations and splicing variants. Retrospective analysis of CTCs from patients progressing under treatment with an AR inhibitor, compared with untreated cases, indicated activation of noncanonical Wnt signaling (p = 0.0064). Ectopic expression of Wnt5a in prostate cancer cells attenuated the antiproliferative effect of AR inhibition, whereas its suppression in drug-resistant cells restored partial sensitivity, a correlation also evident in an established mouse model. Thus, single-cell analysis of prostate CTCs reveals heterogeneity in signaling pathways that could contribute to treatment failure. </p>
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</span>
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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>Using a combination of Southern blotting, PCR amplification, and in situ hybridization, Clark et al. (1993) mapped the WNT5A gene to 3p21-p14. </p>
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</span>
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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>Autosomal dominant Robinow syndrome-1 (DRS1; 180700) is characterized by hypertelorism, craniofacial dysmorphism, short stature, and mesomelic shortening of the limbs. Noting that Wnt5a-null mice exhibit features of Robinow syndrome and that WNT5A interacts with ROR2 (602337), which is mutated in autosomal recessive Robinow syndrome (RRS; 268310), Person et al. (2010) analyzed the WNT5A gene in affected members of the family with autosomal dominant Robinow syndrome originally reported by Robinow et al. (1969) and identified a pathogenic heterozygous mutation (C182R; 164975.0001). A different heterozygous mutation in the WNT5A gene (C83S; 164975.0002) was found in an unrelated patient with sporadic occurrence of the disorder. Mutations in the WNT5A gene were not found in 23 additional unrelated patients with a clinical diagnosis of dominant Robinow syndrome, suggesting genetic heterogeneity. Functional expression assays in zebrafish embryos showed that the mutant proteins represented hypomorphic alleles rather than dominant-negative mutations. The findings implicated the WNT5A/ROR2 pathway in human craniofacial, skeletal, and genital development. </p><p>In affected members of 3 families with autosomal dominant Robinow syndrome, Roifman et al. (2015) identified 2 different heterozygous missense mutations in the WNT5A gene (Y86C, 164975.0003 and C69Y, 164975.0004). The mutation in the first family was found by whole-exome sequencing. Functional studies of the variants were not performed, but molecular modeling indicated that all 4 mutations found to date, including those reported by Person et al. (2010), occurred on 1 side of the protein. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Oishi et al. (2003) found that both Wnt5a-null and Ror2 (602337)-null mice showed dwarfism, facial abnormalities, short limbs and tails, dysplasia of lungs and genitals, and ventricular septal defects. In vitro binding assays revealed that Wnt5a binds to the Ror2 and activates the noncanonical Wnt pathway. The findings indicated that Wnt5a and Ror2 interact physically and functionally, and suggested that Ror2 acts as a receptor for Wnt5a to activate noncanonical Wnt signaling. </p><p>Wnt5a -/- mice are grossly abnormal and die shortly after birth due to multiple defects (Yamaguchi et al., 1999). Schleiffarth et al. (2007) found 100% penetrance of cardiac outflow tract abnormalities in 19 Wnt5a -/- mice, including persistent truncus arteriosus, double-outlet right ventricle, transposition of the great arteries, large subarterial ventricular septal defect, and several abnormalities of the aortic arch. Wnt5a was expressed in pharyngeal mesoderm in normal mouse embryos at embryonic days 9.5 and 10.5, and in myocardial cell layer of the conotruncus at day 10.5. By day 11.5, Wnt5a was expressed in paratracheal and parapharyngeal mesenchyme. A similar expression pattern was detected in the developing quail. Wnt5a deletion did not affect formation of the secondary or anterior heart field or initiation of migration of cardiac neural crest (CNC) cells. However, it did reduce expression of plexin A2 (PLXNA2; 601054) at a time when CNC cell-derived mesenchyme condenses to form an aortopulmonary septum. Treatment of cultured chicken CNC cells with Wnt5a elicited calcium transients, suggesting that Wnt5a is involved in the calcium, but not planar cell polarity, signaling pathway. Schleiffarth et al. (2007) concluded that WNT5A acts as a local morphogen that signals to CNC cells as they reorganize to form the aortopulmonary septum. </p><p>Metacarpals in the synpolydactyly homolog (spdh) mouse, which carries a mutation in the Hoxd13 (142989) homeobox gene, are transformed to carpal-like bones with cuboid shape that lack cortical bone and perichondrium and are surrounded by a joint surface. Kuss et al. (2014) found that metacarpal defects in spdh mice were due, at least in part, to defective Wnt5 signaling. Handplates of spdh embryos showed reduced expression of Wnt5a and Wnt5b, concomitant with defects in cell polarity in metacarpal growth plates and perichondrium. Visible defects in cell polarity were accompanied by increased staining for beta-catenin in the perichondral region of metacarpals. Exogenous Hoxd13 or Wnt5a partly rescued cell polarity defects in perichondrium of spdh mice. In vitro, Hoxd13, but not Hoxd13 with the spdh mutation, induced Wnt5a expression. </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>The paper by Ford et al. (2009) concerning WNT5A signaling in estrogen receptor-negative breast cancer cells was retracted. </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>4 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 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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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WNT5A, CYS182ARG
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<br />
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SNP: rs387906663,
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ClinVar: RCV000022695
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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 7 affected members of a family with autosomal dominant Robinow syndrome-1 (DRS1; 180700) originally reported by Robinow et al. (1969), Person et al. (2010) identified a heterozygous 544/545CT-TC change in exon 4 of the WNT5A gene, resulting in a cys182-to-arg (C182R) substitution at a highly conserved residue. The mutation segregated with the disorder in the family and was not found in 196 controls. Functional expression assays in zebrafish embryos showed that the mutant protein represented a hypomorphic allele rather than a dominant-negative mutation. </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 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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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WNT5A, CYS83SER
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<br />
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SNP: rs786200925,
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ClinVar: RCV000022696
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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 man with sporadic Robinow syndrome-1 (DRS1; 180700), Person et al. (2010) identified a heterozygous 248G-C transversion in exon 3 of the WNT5A gene, resulting in a cys83-to-ser (C83S) substitution in a highly conserved cysteine residue. The patient had marked hypertelorism, short nose, short stature, and mesomelic limb shortening. The mutation was not found in 173 control DNA samples. Functional expression assays in zebrafish embryos showed that the mutant protein represented a hypomorphic allele rather than a dominant-negative mutation. </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 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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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WNT5A, TYR86CYS
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<br />
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SNP: rs786204836,
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ClinVar: RCV000169740, RCV005089723
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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 mother and son of Caucasian origin with autosomal dominant Robinow syndrome-1 (DRS1; 180700), Roifman et al. (2015) identified a heterozygous c.257A-G transition in the WNT5A gene, resulting in a tyr86-to-cys (Y86C) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, occurred as a de novo event in the mother. The same heterozygous Y86C mutation was subsequently found by direct sequencing in a Turkish father and daughter with the disorder. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1</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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WNT5A, CYS69TYR
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<br />
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SNP: rs786204837,
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ClinVar: RCV000169741
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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 boy with autosomal dominant Robinow syndrome-1 (DRS1; 180700), Roifman et al. (2015) identified a de novo heterozygous c.206G-A transition in the WNT5A gene, resulting in a cys69-to-tyr (C69Y) substitution. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<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 />
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</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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Clark, C. C., Cohen, I., Eichstetter, I., Cannizzaro, L. A., McPherson, J. D., Wasmuth, J. J., Iozzo, R. V.
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<strong>Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.</strong>
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Genomics 18: 249-260, 1993.
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[PubMed: 8288227]
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[Full Text: https://doi.org/10.1006/geno.1993.1463]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Florian, M. C., Nattamai, K. J., Dorr, K., Marka, G., Uberle, B., Vas, V., Eckl, C., Andra, I., Schiemann, M., Oostendorp, R. A. J., Scharffetter-Kochanek, K., Kestler, H. A., Zheng, Y., Geiger, H.
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<strong>A canonical to non-canonical Wnt signalling switch in haematopoietic stem-cell ageing.</strong>
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Nature 503: 392-396, 2013.
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[PubMed: 24141946]
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[Full Text: https://doi.org/10.1038/nature12631]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ford, C. E., Ekstrom, E. J., Andersson, T.
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<strong>Wnt-5a signaling restores tamoxifen sensitivity in estrogen receptor-negative breast cancer cells.</strong>
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|
Proc. Nat. Acad. Sci. 106: 3919-3924, 2009. Note: Retraction: Proc. Nat. Acad. Sci. 107: 22360 only, 2010.
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[PubMed: 19237581]
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[Full Text: https://doi.org/10.1073/pnas.0809516106]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gavin, B. J., McMahon, J. A., McMahon, A. P.
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<strong>Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.</strong>
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Genes Dev. 4: 2319-2332, 1990.
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[PubMed: 2279700]
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[Full Text: https://doi.org/10.1101/gad.4.12b.2319]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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He, X., Saint-Jeannet, J.-P., Wang, Y., Nathans, J., Dawid, I., Varmus, H.
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<strong>A member of the frizzled protein family mediating axis induction by Wnt-5A.</strong>
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Science 275: 1652-1654, 1997.
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[PubMed: 9054360]
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[Full Text: https://doi.org/10.1126/science.275.5306.1652]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kuss, P., Kraft, K., Stumm, J., Ibrahim, D., Vallecillo-Garcia, P., Mundlos, S., Stricker, S.
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<strong>Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.</strong>
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Dev. Biol. 385: 83-93, 2014.
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[PubMed: 24161848]
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[Full Text: https://doi.org/10.1016/j.ydbio.2013.10.013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mikels, A. J., Nusse, R.
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<strong>Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.</strong>
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PLoS Biol. 4: e115, 2006. Note: Electronic Article.
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[PubMed: 16602827]
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[Full Text: https://doi.org/10.1371/journal.pbio.0040115]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Miyamoto, D. T., Zheng, Y., Wittner, B. S., Lee, R. J., Zhu, H., Broderick, K. T., Desai, R., Fox, D. B., Brannigan, B. W., Trautwein, J., Arora, K. S., Desai, N., and 11 others.
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<strong>RNA-seq of single prostate CTCs implicates noncanonical Wnt signaling in antiandrogen resistance.</strong>
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|
Science 349: 1351-1365, 2015.
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[PubMed: 26383955]
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[Full Text: https://doi.org/10.1126/science.aab0917]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Miyoshi, H., Ajima, R., Luo, C. T., Yamaguchi, T. P., Stappenbeck, T. S.
|
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<strong>Wnt5a potentiates TGF-beta signaling to promote colonic crypt regeneration after tissue injury.</strong>
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