3007 lines
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Entry
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- *608500 - PRICKLE PLANAR CELL POLARITY PROTEIN 1; PRICKLE1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/608500">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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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000139174;t=ENST00000345127" 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=144165" 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=608500" 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=ENSG00000139174;t=ENST00000345127" 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_001144881,NM_001144882,NM_001144883,NM_153026,XM_011537946,XM_011537947,XM_017018838,XM_017018839,XM_017018840,XM_047428327,XM_047428328,XM_047428329,XM_047428330,XM_047428332,XM_047428333,XM_047428334,XM_047428335" 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_153026" 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=608500" 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=16341&isoform_id=16341_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/PRICKLE1" 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/16551525,16551917,33307745,33333373,33333375,59800163,109731940,109732090,119578258,119578259,193783793,193783796,222136678,222136680,222136682,222136684,767973277,767973279,1034578059,1034578061,1034578063,2217287539,2217287541,2217287544,2217287546,2217287551,2217287553,2217287555,2217287557,2462530094,2462530096,2462530098,2462530100,2462530102,2462530104,2462530106,2462530108,2462530110,2462530112,2462530114,2462530116,2462530118" 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/Q96MT3" 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=144165" 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=ENSG00000139174;t=ENST00000345127" 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=PRICKLE1" 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=PRICKLE1" 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+144165" 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/PRICKLE1" 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:144165" 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/144165" 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=chr12&hgg_gene=ENST00000345127.9&hgg_start=42456757&hgg_end=42589746&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:17019" 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/prickle1" 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=608500[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=608500[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/ENSG00000139174" 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=PRICKLE1" 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=PRICKLE1" 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=PRICKLE1" 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=PRICKLE1&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/PA134906946" 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:17019" 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/FBgn0003090.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:1916034" 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/PRICKLE1#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:1916034" 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/144165/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://omia.org/OMIA002693/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=144165" 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=WBGene00022727;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2152" 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:144165" 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=PRICKLE1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702326000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608500
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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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PRICKLE PLANAR CELL POLARITY PROTEIN 1; PRICKLE1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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PRICKLE, DROSOPHILA, HOMOLOG OF, 1<br />
|
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PK1<br />
|
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PRICKLE-LIKE 1<br />
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REST-INTERACTING LIM DOMAIN PROTEIN; RILP
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PRICKLE1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PRICKLE1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/12/298?start=-3&limit=10&highlight=298">12q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:42456757-42589746&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'})">12:42,456,757-42,589,746</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>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/298?start=-3&limit=10&highlight=298">
|
|
12q12
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Epilepsy, progressive myoclonic 1B
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612437"> 612437 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<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">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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<p>PRICKLE proteins, such as PRICKLE1, are core constituents of the planar cell polarity signaling pathway that establishes cell polarity during embryonic development (<a href="#5" class="mim-tip-reference" title="Liu, C., Lin, C., Whitaker, D., T., Bakeri, H., Bulgakov, O. V., Liu, P., Lei, J., Dong, L., Li, T., Swaroop, A. <strong>Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.</strong> Hum. Molec. Genet. 22: 2234-2246, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23420014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420014">Liu et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420014" 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 mouse Rest4 (see REST, <a href="/entry/600571">600571</a>) as bait in a yeast 2-hybrid screen, <a href="#6" class="mim-tip-reference" title="Shimojo, M., Hersh, L. B. <strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong> Molec. Cell. Biol. 23: 9025-9031, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14645515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14645515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14645515[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.24.9025-9031.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14645515">Shimojo and Hersh (2003)</a> cloned rat Prickle1, which they designated Rilp, from a rat brain cDNA library. By screening a human brain cDNA library with rat Rilp cDNA fragments, followed by 5-prime and 3-prime RACE, they obtained full-length human PRICKLE1. The deduced 831-amino acid protein contains 3 N-terminal LIM domains and 3 C-terminal nuclear localization signals. It also contains 4 N-glycosylation sites, 2 PKA (see <a href="/entry/176911">176911</a>) phosphorylation sites, and a C-terminal CIIS (cys-ile-ile-ser) prenylation motif. Northern blot analysis detected a single 4.4-kb transcript in all tissues examined, with the highest level in placenta. Western blot analysis detected in vitro translated PRICKLE1 at an apparent molecular mass of 100 kD. SDS-PAGE and Western blot analysis of HeLa cell extracts showed endogenous PRICKLE1 in the nuclear fraction, with a smaller amount in the cytosolic extract. Immunolocalization showed endogenous PRICKLE1 localized around HeLa cell nuclei, and proteinase digestion indicated that at least a portion of PRICKLE1 is localized to the outer nuclear membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14645515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching an EST database for sequences similar to those of Drosophila and Xenopus Prickle, <a href="#4" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong> Int. J. Molec. Med. 11: 249-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525887</a>]" pmid="12525887">Katoh and Katoh (2003)</a> identified human PRICKLE1. The deduced protein contains a PET domain N-terminal to the 3 LIM domains. PRICKLE1 and PRICKLE2 (<a href="/entry/608501">608501</a>) share 51.9% identity overall and 79.3% identity within the N-terminal PET and LIM domains. EST database analysis revealed coexpression of PRICKLE1 and PRICKLE2 in brain, eye, and testis; additionally, PRICKLE1 is expressed in fetal heart and in hematologic malignancies lymphoma and acute myelogenous leukemia (<a href="/entry/601626">601626</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525887" 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="Bassuk, A. G., Wallace, R. H., Buhr, A., Buller, A. R., Afawi, Z., Shimojo, M., Miyata, S., Chen, S., Gonzalez-Alegre, P., Griesbach, H. L., Wu, S., Nashelsky, M., and 18 others. <strong>A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.</strong> Am. J. Hum. Genet. 83: 572-581, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18976727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18976727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18976727[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18976727">Bassuk et al. (2008)</a> detected Prickle1 expression in neurons of several murine brain regions, including thalamus, hippocampus, cerebral cortex, and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18976727" 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="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> demonstrated diffuse Prickle staining in neurons and neuronal structures in various regions of the Drosophila brain, including the optic lobes, central brain structures, and ventral segmental ganglia near the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21276947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using in situ hybridization and immunohistochemical analysis, <a href="#5" class="mim-tip-reference" title="Liu, C., Lin, C., Whitaker, D., T., Bakeri, H., Bulgakov, O. V., Liu, P., Lei, J., Dong, L., Li, T., Swaroop, A. <strong>Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.</strong> Hum. Molec. Genet. 22: 2234-2246, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23420014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420014">Liu et al. (2013)</a> found that mouse Pk1 was expressed during middle and late stages of cortical neurogenesis. In adult mouse brain, Pk1 was expressed widely, but in distinct neuronal and glial cell populations. In retina, highest Pk1 expression was detected in cholinergic amacrine neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Shimojo, M., Hersh, L. B. <strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong> Molec. Cell. Biol. 23: 9025-9031, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14645515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14645515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14645515[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.24.9025-9031.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14645515">Shimojo and Hersh (2003)</a> and <a href="#4" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong> Int. J. Molec. Med. 11: 249-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525887</a>]" pmid="12525887">Katoh and Katoh (2003)</a> determined that the PRICKLE1 gene contains at least 8 exons. <a href="#4" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong> Int. J. Molec. Med. 11: 249-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525887</a>]" pmid="12525887">Katoh and Katoh (2003)</a> determined that the 5-prime untranslated region is interrupted by intron 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12525887+14645515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Shimojo, M., Hersh, L. B. <strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong> Molec. Cell. Biol. 23: 9025-9031, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14645515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14645515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14645515[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.24.9025-9031.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14645515">Shimojo and Hersh (2003)</a> mapped the PRICKLE1 gene to chromosome 12q12. <a href="#4" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong> Int. J. Molec. Med. 11: 249-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525887</a>]" pmid="12525887">Katoh and Katoh (2003)</a> mapped the human PRICKLE1 gene to chromosome 12q11-q12 and the mouse Prickle1 gene to chromosome 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12525887+14645515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By immunoprecipitation of transfected human embryonic kidney cells, <a href="#6" class="mim-tip-reference" title="Shimojo, M., Hersh, L. B. <strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong> Molec. Cell. Biol. 23: 9025-9031, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14645515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14645515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14645515[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.24.9025-9031.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14645515">Shimojo and Hersh (2003)</a> demonstrated that PRICKLE1 interacts directly with REST. PRICKLE1 did not coimmunoprecipitate with a REST mutant in which the zinc finger structures were disrupted. Deletion analysis indicated that the C-terminal CIIS prenylation motif was necessary for targeting PRICKLE1 to the nucleus. Furthermore, downregulation of PRICKLE1 with small interfering RNAs (siRNAs) resulted in the mislocalization of REST to the cytosol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14645515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast 2-hybrid and immunoprecipitation analyses, <a href="#7" class="mim-tip-reference" title="Shimojo, M. <strong>Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150-Glued.</strong> J. Biol. Chem. 283: 34880-34886, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18922795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18922795</a>] [<a href="https://doi.org/10.1074/jbc.M804183200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18922795">Shimojo (2008)</a> showed that human RILP and huntingtin (HTT; <a href="/entry/613004">613004</a>) interacted directly with dynactin-1 (DCTN1; <a href="/entry/601143">601143</a>) to form a triplex. REST bound to the triplex through direct interaction with RILP, forming a quaternary complex involved in nuclear translocation of REST in non-neuronal cells. In neuronal cells, the complex also contained HAP1 (<a href="/entry/600947">600947</a>), which affected interaction of disease-causing mutant huntingtin, but not wildtype huntingtin, with dynactin-1 and RILP. Overexpression and knockout analyses demonstrated that the presence of HAP1 in the complex prevented nuclear translocation of REST and thereby regulated REST activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18922795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Liu, C., Lin, C., Whitaker, D., T., Bakeri, H., Bulgakov, O. V., Liu, P., Lei, J., Dong, L., Li, T., Swaroop, A. <strong>Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.</strong> Hum. Molec. Genet. 22: 2234-2246, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23420014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23420014">Liu et al. (2013)</a> found that knockdown of Pk1 by short hairpin RNA or expression of dominant-negative constructs reduced axonal and dendritic extension in cultured mouse hippocampal neurons. Knockdown of Pk1 in neonatal mouse retina led to defects in inner and outer segments and axon terminals of photoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23420014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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In affected members of 3 Middle Eastern families with autosomal recessive progressive myoclonic epilepsy-1B (EPM1B; <a href="/entry/612437">612437</a>), <a href="#2" class="mim-tip-reference" title="Bassuk, A. G., Wallace, R. H., Buhr, A., Buller, A. R., Afawi, Z., Shimojo, M., Miyata, S., Chen, S., Gonzalez-Alegre, P., Griesbach, H. L., Wu, S., Nashelsky, M., and 18 others. <strong>A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.</strong> Am. J. Hum. Genet. 83: 572-581, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18976727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18976727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18976727[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18976727">Bassuk et al. (2008)</a> identified the same homozygous mutation in the PRICKLE1 gene (R104Q; <a href="#0001">608500.0001</a>). The findings were consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18976727" 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="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> identified 2 different heterozygous mutations in the PRICKLE1 gene (R144H, <a href="#0002">608500.0002</a> and Y472H, <a href="#0003">608500.0003</a>, respectively) in 2 unrelated patients with myoclonic epilepsy. One patient had mild mental retardation, and no additional clinical information was provided for the other patient. No information on family members of either patient was provided. <a href="#8" class="mim-tip-reference" title="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> concluded that PRICKLE signaling is important in seizure prevention, and presented 2 hypotheses: (1) that PRICKLE affects cell polarity and contributes to the development of a functional neural network and (2) that PRICKLE affects calcium signaling, which may play a role in seizure genesis if disrupted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21276947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q.-H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G., Kibar, Z. <strong>Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.</strong> Hum. Mutat. 32: 1371-1375, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901791</a>] [<a href="https://doi.org/10.1002/humu.21589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21901791">Bosoi et al. (2011)</a> identified 7 different heterozygous missense variants in the PRICKLE1 gene in 7 of 810 patients with a variety of neural tube defects (NTD; <a href="/entry/182940">182940</a>). None of the variants were found in 1,396 controls, but the variants were inherited from an unaffected parent in 5 cases, suggesting incomplete penetrance. In silico analysis using PolyPhen software predicted that only 3 of the variants were probably damaging, whereas SIFT predicted that all were intolerant substitutions. Overexpression of the wildtype zebrafish ortholog (pk1a) results in defective convergent extension during gastrulation and neural tube formation. In zebrafish, <a href="#3" class="mim-tip-reference" title="Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q.-H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G., Kibar, Z. <strong>Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.</strong> Hum. Mutat. 32: 1371-1375, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901791</a>] [<a href="https://doi.org/10.1002/humu.21589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21901791">Bosoi et al. (2011)</a> found that overexpression of 5 of the variants found in humans resulted in more severe defects in convergent extension compared to wildtype, suggesting that they may act as hypermorphic alleles. Overexpression of 1 variant (R682C) rescued the effects of overexpressed Prickle1, suggesting a dominant-negative effect. <a href="#3" class="mim-tip-reference" title="Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q.-H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G., Kibar, Z. <strong>Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.</strong> Hum. Mutat. 32: 1371-1375, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901791</a>] [<a href="https://doi.org/10.1002/humu.21589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21901791">Bosoi et al. (2011)</a> hypothesized that variation in the PRICKLE1 gene may contribute to the development of neural tube defects in man. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21901791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> found that Prickle1-mutant mice that were heterozygous for a C251X mutation, which truncates protein shortly after the PET and LIM domains, showed a decreased seizure threshold compared to wildtype mice. A similar phenotype was observed for Prickle1-mutant mice carrying a heterozygous F141S mutation, which alters an amino acid in the PET/LIM domain. These results suggested that disruption of the highly conserved PET/LIM domain is sufficient to lower seizure threshold. Homozygous Prickle1-null mice and homozygous C251X-mutant mice were embryonic lethal. In the Drosophila prickle mutant 'spiny legs-1,' pk(sple1)/pk(sple1) homozygous mutants showed severely decreased recovery in the bang test (sensitivity to vortexing), suggesting a decreased seizure threshold. A small percentage of pk(sple1)/pk(sple1) flies also showed generalized disorganization of the peripheral nervous system, with aberrant migration of neuronal processes resulting in improper connections; these changes were not observed in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21276947" 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="Ban, Y., Yu, T., Wang, J., Wang, X., Liu, C., Baker, C., Zou, Y. <strong>Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.</strong> Exp. Neurol. 347: 113880, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34597683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34597683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34597683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.expneurol.2021.113880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34597683">Ban et al. (2022)</a> found that knockin mice carrying the Pk1 R104Q mutation (<a href="#0001">608500.0001</a>) associated with progressive myoclonus epilepsy (EPM1B; <a href="/entry/612437">612437</a>) in human had normal expression and stability of the Pk1 protein. However, the R104Q mutation impaired Pk1 function in assembly and maintenance of Psd95 (<a href="/entry/602887">602887</a>)-positive excitatory synapses in the hippocampus of mutant mice. The mutation is located within the highly conserved PET domain of Pk1, and fractionation analysis showed that R104Q impaired Pk1 interaction with Rest in vivo. Similar to humans, the R104Q mutation caused epileptic seizures in mice, with mice heterozygous for the mutation showing enhanced seizure susceptibility compared with mice homozygous for R104Q. Mutant mice also displayed impaired social approach behavior, but social recognition memory was normal. Anxiety level was unaltered in mutant mice. Cognitive functions test revealed that mice heterozygous for R104Q showed spatial memory deficit, whereas mice homozygous for the mutation displayed novel object recognition deficit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34597683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 unrelated consanguineous families with progressive myoclonic epilepsy-1B (EPM1B; <a href="/entry/612437">612437</a>), <a href="#2" class="mim-tip-reference" title="Bassuk, A. G., Wallace, R. H., Buhr, A., Buller, A. R., Afawi, Z., Shimojo, M., Miyata, S., Chen, S., Gonzalez-Alegre, P., Griesbach, H. L., Wu, S., Nashelsky, M., and 18 others. <strong>A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.</strong> Am. J. Hum. Genet. 83: 572-581, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18976727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18976727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18976727[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18976727">Bassuk et al. (2008)</a> identified a homozygous 311G-A transition in the PRICKLE1 gene, resulting in an arg104-to-gln (R104Q) substitution in a highly conserved region. The mutation was not detected in 1,354 control individuals. In vitro functional expression studies showed that mutant PRICKLE1 failed to bind REST (<a href="/entry/600571">600571</a>) and blocked transport of REST out of the nucleus, resulting in constitutive activation of REST and inappropriate downregulation of REST target genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18976727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B</strong>
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PRICKLE1, ARG144HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281865563 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865563;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs281865563?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs281865563" 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=rs281865563" 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=RCV000023707 OR RCV000188738 OR RCV004018670" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023707, RCV000188738, RCV004018670" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023707...</a>
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<p>In a male patient with EPM1B (<a href="/entry/612437">612437</a>), <a href="#8" class="mim-tip-reference" title="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> identified a heterozygous 431G-A transition in the PRICKLE1 gene, resulting in an arg144-to-his (R144H) substitution. The patient had myoclonic seizures, generalized EEG pattern, and mild mental retardation. No information regarding family members of this patient was provided. The mutation was not detected in 2,000 CEPH control chromosomes or 352 ethnically matched chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21276947" 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 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B</strong>
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PRICKLE1, TYR472HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281865564 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865564;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=rs281865564" 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=rs281865564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023708" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023708" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023708</a>
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</span>
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<span class="mim-text-font">
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<p>In a female patient with juvenile myoclonic epilepsy (EPM1B; <a href="/entry/612437">612437</a>), <a href="#8" class="mim-tip-reference" title="Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others. <strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong> Am. J. Hum. Genet. 88: 138-149, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21276947">Tao et al. (2011)</a> identified a heterozygous 1414T-C transition in the PRICKLE1 gene, resulting in a tyr472-to-his (Y472H) substitution. The authors provided no other clinical details on this patient or on any of her family members. The mutation was not detected in 2,000 CEPH control chromosomes or 352 ethnically matched chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21276947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Ban2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ban, Y., Yu, T., Wang, J., Wang, X., Liu, C., Baker, C., Zou, Y.
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<strong>Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.</strong>
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Exp. Neurol. 347: 113880, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34597683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34597683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34597683[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=34597683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.expneurol.2021.113880" target="_blank">Full Text</a>]
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<a id="Bassuk2008" class="mim-anchor"></a>
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Bassuk, A. G., Wallace, R. H., Buhr, A., Buller, A. R., Afawi, Z., Shimojo, M., Miyata, S., Chen, S., Gonzalez-Alegre, P., Griesbach, H. L., Wu, S., Nashelsky, M., and 18 others.
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<strong>A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.</strong>
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Am. J. Hum. Genet. 83: 572-581, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18976727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18976727</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18976727[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=18976727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.10.003" target="_blank">Full Text</a>]
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<a id="Bosoi2011" class="mim-anchor"></a>
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Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q.-H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G., Kibar, Z.
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<strong>Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.</strong>
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Hum. Mutat. 32: 1371-1375, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21901791" 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/10.1002/humu.21589" target="_blank">Full Text</a>]
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<a id="Katoh2003" class="mim-anchor"></a>
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Katoh, M., Katoh, M.
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<strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong>
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Int. J. Molec. Med. 11: 249-256, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Liu2013" class="mim-anchor"></a>
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Liu, C., Lin, C., Whitaker, D., T., Bakeri, H., Bulgakov, O. V., Liu, P., Lei, J., Dong, L., Li, T., Swaroop, A.
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<strong>Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.</strong>
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Hum. Molec. Genet. 22: 2234-2246, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23420014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23420014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23420014[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=23420014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddt075" target="_blank">Full Text</a>]
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<a id="Shimojo2003" class="mim-anchor"></a>
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Shimojo, M., Hersh, L. B.
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<strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong>
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Molec. Cell. Biol. 23: 9025-9031, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14645515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14645515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14645515[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=14645515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.24.9025-9031.2003" target="_blank">Full Text</a>]
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<a id="Shimojo2008" class="mim-anchor"></a>
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Shimojo, M.
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<strong>Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150-Glued.</strong>
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J. Biol. Chem. 283: 34880-34886, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18922795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18922795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18922795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M804183200" target="_blank">Full Text</a>]
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<a id="Tao2011" class="mim-anchor"></a>
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Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others.
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<strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong>
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Am. J. Hum. Genet. 88: 138-149, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21276947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21276947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21276947[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=21276947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.12.012" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Bao Lige - updated : 08/26/2022
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Bao Lige - updated : 09/23/2019<br>Patricia A. Hartz - updated : 10/11/2013<br>Cassandra L. Kniffin - updated : 4/2/2012<br>Cassandra L. Kniffin - updated : 3/25/2011<br>Cassandra L. Kniffin - updated : 11/24/2008
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 3/1/2004
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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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alopez : 03/21/2023
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<span class="mim-text-font">
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mgross : 08/26/2022<br>carol : 09/24/2019<br>mgross : 09/23/2019<br>carol : 01/21/2015<br>carol : 1/21/2015<br>mcolton : 1/20/2015<br>mgross : 10/14/2013<br>mgross : 10/11/2013<br>carol : 4/4/2012<br>terry : 4/4/2012<br>ckniffin : 4/2/2012<br>terry : 4/28/2011<br>wwang : 3/29/2011<br>ckniffin : 3/25/2011<br>terry : 1/20/2010<br>wwang : 12/5/2008<br>ckniffin : 11/24/2008<br>alopez : 3/1/2004
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<span class="mim-font">
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<strong>*</strong> 608500
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<h3>
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<span class="mim-font">
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PRICKLE PLANAR CELL POLARITY PROTEIN 1; PRICKLE1
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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PRICKLE, DROSOPHILA, HOMOLOG OF, 1<br />
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PK1<br />
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PRICKLE-LIKE 1<br />
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REST-INTERACTING LIM DOMAIN PROTEIN; RILP
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PRICKLE1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702326000;
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<strong>
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<em>
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Cytogenetic location: 12q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:42,456,757-42,589,746 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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12q12
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<span class="mim-font">
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Epilepsy, progressive myoclonic 1B
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<span class="mim-font">
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612437
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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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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</h4>
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<span class="mim-text-font">
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<p>PRICKLE proteins, such as PRICKLE1, are core constituents of the planar cell polarity signaling pathway that establishes cell polarity during embryonic development (Liu et al., 2013). </p>
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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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<p>Using mouse Rest4 (see REST, 600571) as bait in a yeast 2-hybrid screen, Shimojo and Hersh (2003) cloned rat Prickle1, which they designated Rilp, from a rat brain cDNA library. By screening a human brain cDNA library with rat Rilp cDNA fragments, followed by 5-prime and 3-prime RACE, they obtained full-length human PRICKLE1. The deduced 831-amino acid protein contains 3 N-terminal LIM domains and 3 C-terminal nuclear localization signals. It also contains 4 N-glycosylation sites, 2 PKA (see 176911) phosphorylation sites, and a C-terminal CIIS (cys-ile-ile-ser) prenylation motif. Northern blot analysis detected a single 4.4-kb transcript in all tissues examined, with the highest level in placenta. Western blot analysis detected in vitro translated PRICKLE1 at an apparent molecular mass of 100 kD. SDS-PAGE and Western blot analysis of HeLa cell extracts showed endogenous PRICKLE1 in the nuclear fraction, with a smaller amount in the cytosolic extract. Immunolocalization showed endogenous PRICKLE1 localized around HeLa cell nuclei, and proteinase digestion indicated that at least a portion of PRICKLE1 is localized to the outer nuclear membrane. </p><p>By searching an EST database for sequences similar to those of Drosophila and Xenopus Prickle, Katoh and Katoh (2003) identified human PRICKLE1. The deduced protein contains a PET domain N-terminal to the 3 LIM domains. PRICKLE1 and PRICKLE2 (608501) share 51.9% identity overall and 79.3% identity within the N-terminal PET and LIM domains. EST database analysis revealed coexpression of PRICKLE1 and PRICKLE2 in brain, eye, and testis; additionally, PRICKLE1 is expressed in fetal heart and in hematologic malignancies lymphoma and acute myelogenous leukemia (601626). </p><p>Bassuk et al. (2008) detected Prickle1 expression in neurons of several murine brain regions, including thalamus, hippocampus, cerebral cortex, and cerebellum. </p><p>Tao et al. (2011) demonstrated diffuse Prickle staining in neurons and neuronal structures in various regions of the Drosophila brain, including the optic lobes, central brain structures, and ventral segmental ganglia near the brain. </p><p>Using in situ hybridization and immunohistochemical analysis, Liu et al. (2013) found that mouse Pk1 was expressed during middle and late stages of cortical neurogenesis. In adult mouse brain, Pk1 was expressed widely, but in distinct neuronal and glial cell populations. In retina, highest Pk1 expression was detected in cholinergic amacrine neurons. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shimojo and Hersh (2003) and Katoh and Katoh (2003) determined that the PRICKLE1 gene contains at least 8 exons. Katoh and Katoh (2003) determined that the 5-prime untranslated region is interrupted by intron 1. </p>
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</span>
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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>By genomic sequence analysis, Shimojo and Hersh (2003) mapped the PRICKLE1 gene to chromosome 12q12. Katoh and Katoh (2003) mapped the human PRICKLE1 gene to chromosome 12q11-q12 and the mouse Prickle1 gene to chromosome 15. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene 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>By immunoprecipitation of transfected human embryonic kidney cells, Shimojo and Hersh (2003) demonstrated that PRICKLE1 interacts directly with REST. PRICKLE1 did not coimmunoprecipitate with a REST mutant in which the zinc finger structures were disrupted. Deletion analysis indicated that the C-terminal CIIS prenylation motif was necessary for targeting PRICKLE1 to the nucleus. Furthermore, downregulation of PRICKLE1 with small interfering RNAs (siRNAs) resulted in the mislocalization of REST to the cytosol. </p><p>Using yeast 2-hybrid and immunoprecipitation analyses, Shimojo (2008) showed that human RILP and huntingtin (HTT; 613004) interacted directly with dynactin-1 (DCTN1; 601143) to form a triplex. REST bound to the triplex through direct interaction with RILP, forming a quaternary complex involved in nuclear translocation of REST in non-neuronal cells. In neuronal cells, the complex also contained HAP1 (600947), which affected interaction of disease-causing mutant huntingtin, but not wildtype huntingtin, with dynactin-1 and RILP. Overexpression and knockout analyses demonstrated that the presence of HAP1 in the complex prevented nuclear translocation of REST and thereby regulated REST activity. </p><p>Liu et al. (2013) found that knockdown of Pk1 by short hairpin RNA or expression of dominant-negative constructs reduced axonal and dendritic extension in cultured mouse hippocampal neurons. Knockdown of Pk1 in neonatal mouse retina led to defects in inner and outer segments and axon terminals of photoreceptors. </p>
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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><strong><em>Progressive Myoclonic Epilepsy 1B</em></strong></p><p>
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In affected members of 3 Middle Eastern families with autosomal recessive progressive myoclonic epilepsy-1B (EPM1B; 612437), Bassuk et al. (2008) identified the same homozygous mutation in the PRICKLE1 gene (R104Q; 608500.0001). The findings were consistent with a founder effect. </p><p>Tao et al. (2011) identified 2 different heterozygous mutations in the PRICKLE1 gene (R144H, 608500.0002 and Y472H, 608500.0003, respectively) in 2 unrelated patients with myoclonic epilepsy. One patient had mild mental retardation, and no additional clinical information was provided for the other patient. No information on family members of either patient was provided. Tao et al. (2011) concluded that PRICKLE signaling is important in seizure prevention, and presented 2 hypotheses: (1) that PRICKLE affects cell polarity and contributes to the development of a functional neural network and (2) that PRICKLE affects calcium signaling, which may play a role in seizure genesis if disrupted. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Bosoi et al. (2011) identified 7 different heterozygous missense variants in the PRICKLE1 gene in 7 of 810 patients with a variety of neural tube defects (NTD; 182940). None of the variants were found in 1,396 controls, but the variants were inherited from an unaffected parent in 5 cases, suggesting incomplete penetrance. In silico analysis using PolyPhen software predicted that only 3 of the variants were probably damaging, whereas SIFT predicted that all were intolerant substitutions. Overexpression of the wildtype zebrafish ortholog (pk1a) results in defective convergent extension during gastrulation and neural tube formation. In zebrafish, Bosoi et al. (2011) found that overexpression of 5 of the variants found in humans resulted in more severe defects in convergent extension compared to wildtype, suggesting that they may act as hypermorphic alleles. Overexpression of 1 variant (R682C) rescued the effects of overexpressed Prickle1, suggesting a dominant-negative effect. Bosoi et al. (2011) hypothesized that variation in the PRICKLE1 gene may contribute to the development of neural tube defects in man. </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>Animal Model</strong>
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<span class="mim-text-font">
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<p>Tao et al. (2011) found that Prickle1-mutant mice that were heterozygous for a C251X mutation, which truncates protein shortly after the PET and LIM domains, showed a decreased seizure threshold compared to wildtype mice. A similar phenotype was observed for Prickle1-mutant mice carrying a heterozygous F141S mutation, which alters an amino acid in the PET/LIM domain. These results suggested that disruption of the highly conserved PET/LIM domain is sufficient to lower seizure threshold. Homozygous Prickle1-null mice and homozygous C251X-mutant mice were embryonic lethal. In the Drosophila prickle mutant 'spiny legs-1,' pk(sple1)/pk(sple1) homozygous mutants showed severely decreased recovery in the bang test (sensitivity to vortexing), suggesting a decreased seizure threshold. A small percentage of pk(sple1)/pk(sple1) flies also showed generalized disorganization of the peripheral nervous system, with aberrant migration of neuronal processes resulting in improper connections; these changes were not observed in controls. </p><p>Ban et al. (2022) found that knockin mice carrying the Pk1 R104Q mutation (608500.0001) associated with progressive myoclonus epilepsy (EPM1B; 612437) in human had normal expression and stability of the Pk1 protein. However, the R104Q mutation impaired Pk1 function in assembly and maintenance of Psd95 (602887)-positive excitatory synapses in the hippocampus of mutant mice. The mutation is located within the highly conserved PET domain of Pk1, and fractionation analysis showed that R104Q impaired Pk1 interaction with Rest in vivo. Similar to humans, the R104Q mutation caused epileptic seizures in mice, with mice heterozygous for the mutation showing enhanced seizure susceptibility compared with mice homozygous for R104Q. Mutant mice also displayed impaired social approach behavior, but social recognition memory was normal. Anxiety level was unaltered in mutant mice. Cognitive functions test revealed that mice heterozygous for R104Q showed spatial memory deficit, whereas mice homozygous for the mutation displayed novel object recognition deficit. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 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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<h4>
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<span class="mim-font">
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<strong>.0001 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B</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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PRICKLE1, ARG104GLN
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<br />
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SNP: rs113994140,
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gnomAD: rs113994140,
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ClinVar: RCV000002373, RCV000431708
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<div>
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<span class="mim-text-font">
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<p>In affected members of 3 unrelated consanguineous families with progressive myoclonic epilepsy-1B (EPM1B; 612437), Bassuk et al. (2008) identified a homozygous 311G-A transition in the PRICKLE1 gene, resulting in an arg104-to-gln (R104Q) substitution in a highly conserved region. The mutation was not detected in 1,354 control individuals. In vitro functional expression studies showed that mutant PRICKLE1 failed to bind REST (600571) and blocked transport of REST out of the nucleus, resulting in constitutive activation of REST and inappropriate downregulation of REST target genes. </p>
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</span>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B</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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PRICKLE1, ARG144HIS
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<br />
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SNP: rs281865563,
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gnomAD: rs281865563,
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ClinVar: RCV000023707, RCV000188738, RCV004018670
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<span class="mim-text-font">
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<p>In a male patient with EPM1B (612437), Tao et al. (2011) identified a heterozygous 431G-A transition in the PRICKLE1 gene, resulting in an arg144-to-his (R144H) substitution. The patient had myoclonic seizures, generalized EEG pattern, and mild mental retardation. No information regarding family members of this patient was provided. The mutation was not detected in 2,000 CEPH control chromosomes or 352 ethnically matched chromosomes. </p>
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<h4>
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<span class="mim-font">
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<strong>.0003 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B</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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PRICKLE1, TYR472HIS
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<br />
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SNP: rs281865564,
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ClinVar: RCV000023708
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</span>
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<span class="mim-text-font">
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<p>In a female patient with juvenile myoclonic epilepsy (EPM1B; 612437), Tao et al. (2011) identified a heterozygous 1414T-C transition in the PRICKLE1 gene, resulting in a tyr472-to-his (Y472H) substitution. The authors provided no other clinical details on this patient or on any of her family members. The mutation was not detected in 2,000 CEPH control chromosomes or 352 ethnically matched chromosomes. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Ban, Y., Yu, T., Wang, J., Wang, X., Liu, C., Baker, C., Zou, Y.
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<strong>Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.</strong>
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Exp. Neurol. 347: 113880, 2022.
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[PubMed: 34597683]
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[Full Text: https://doi.org/10.1016/j.expneurol.2021.113880]
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</li>
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<li>
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<p class="mim-text-font">
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Bassuk, A. G., Wallace, R. H., Buhr, A., Buller, A. R., Afawi, Z., Shimojo, M., Miyata, S., Chen, S., Gonzalez-Alegre, P., Griesbach, H. L., Wu, S., Nashelsky, M., and 18 others.
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<strong>A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.</strong>
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Am. J. Hum. Genet. 83: 572-581, 2008.
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[PubMed: 18976727]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.10.003]
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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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Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q.-H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G., Kibar, Z.
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<strong>Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.</strong>
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Hum. Mutat. 32: 1371-1375, 2011.
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[PubMed: 21901791]
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[Full Text: https://doi.org/10.1002/humu.21589]
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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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Katoh, M., Katoh, M.
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<strong>Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.</strong>
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Int. J. Molec. Med. 11: 249-256, 2003.
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[PubMed: 12525887]
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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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Liu, C., Lin, C., Whitaker, D., T., Bakeri, H., Bulgakov, O. V., Liu, P., Lei, J., Dong, L., Li, T., Swaroop, A.
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<strong>Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.</strong>
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Hum. Molec. Genet. 22: 2234-2246, 2013.
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[PubMed: 23420014]
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[Full Text: https://doi.org/10.1093/hmg/ddt075]
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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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Shimojo, M., Hersh, L. B.
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<strong>REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor.</strong>
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Molec. Cell. Biol. 23: 9025-9031, 2003.
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[PubMed: 14645515]
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[Full Text: https://doi.org/10.1128/MCB.23.24.9025-9031.2003]
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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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Shimojo, M.
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<strong>Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150-Glued.</strong>
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J. Biol. Chem. 283: 34880-34886, 2008.
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[PubMed: 18922795]
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[Full Text: https://doi.org/10.1074/jbc.M804183200]
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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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Tao, H., Manak, J. R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., Dahdaleh, N. S., Yang, T., Wu, S., Chen, S., Fox, M. H., Gurnett, C., and 24 others.
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<strong>Mutations in prickle orthologs cause seizures in flies, mice, and humans.</strong>
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Am. J. Hum. Genet. 88: 138-149, 2011.
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[PubMed: 21276947]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.12.012]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/26/2022<br>Bao Lige - updated : 09/23/2019<br>Patricia A. Hartz - updated : 10/11/2013<br>Cassandra L. Kniffin - updated : 4/2/2012<br>Cassandra L. Kniffin - updated : 3/25/2011<br>Cassandra L. Kniffin - updated : 11/24/2008
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<span class="mim-text-font">
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Patricia A. Hartz : 3/1/2004
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</span>
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alopez : 03/21/2023<br>mgross : 08/26/2022<br>carol : 09/24/2019<br>mgross : 09/23/2019<br>carol : 01/21/2015<br>carol : 1/21/2015<br>mcolton : 1/20/2015<br>mgross : 10/14/2013<br>mgross : 10/11/2013<br>carol : 4/4/2012<br>terry : 4/4/2012<br>ckniffin : 4/2/2012<br>terry : 4/28/2011<br>wwang : 3/29/2011<br>ckniffin : 3/25/2011<br>terry : 1/20/2010<br>wwang : 12/5/2008<br>ckniffin : 11/24/2008<br>alopez : 3/1/2004
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