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Entry
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- *604557 - ZINC FINGER PROTEIN 423; ZNF423
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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">*604557</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604557">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>
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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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<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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</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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<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=ENSG00000102935;t=ENST00000563137" 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=23090" 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=604557" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000102935;t=ENST00000563137" 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_001271620,NM_001330533,NM_001379286,NM_015069,XM_005255856,XM_006721171,XM_017023078,XM_047433803,XM_047433804,XM_047433805,XM_047433806,XM_047433807,XM_047433808,XM_047433809,XM_047433810" 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_001379286" 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=604557" 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=05189&isoform_id=05189_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/ZNF423" 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/6760445,20521644,46359075,85567335,85567729,119603141,121941357,193786546,221045172,410110906,530423709,578828917,1034594053,1059842877,1825603885,2217305134,2217305136,2217305138,2217305140,2217305143,2217305145,2217305147,2217305151,2462548040,2462548042,2462548044,2462548046,2462548048,2462548050,2462548052,2462548054,2462548056,2462548058,2462548060" 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/Q2M1K9" 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=23090" 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=ENSG00000102935;t=ENST00000563137" 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=ZNF423" 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=ZNF423" 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+23090" 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/ZNF423" 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:23090" 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/23090" 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=chr16&hgg_gene=ENST00000768224.1&hgg_start=49487524&hgg_end=49859279&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:16762" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604557[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=604557[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ZNF423/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102935" 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=ZNF423" 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=ZNF423" 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=ZNF423" 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=ZNF423&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/PA134903681" 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:16762" 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://www.mousephenotype.org/data/genes/MGI:1891217" 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/ZNF423#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:1891217" 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/23090/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=23090" 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://zfin.org/ZDB-GENE-030131-4368" 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://reactome.org/content/query?q=ZNF423&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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604557
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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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ZINC FINGER PROTEIN 423; ZNF423
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ZINC FINGER PROTEIN 423, MOUSE, HOMOLOG OF; ZFP423<br />
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OLF1/EBF-ASSOCIATED ZINC FINGER PROTEIN; OAZ<br />
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KIAA0760
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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=ZNF423" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZNF423</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/16/421?start=-3&limit=10&highlight=421">16q12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:49487524-49859279&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'})">16:49,487,524-49,859,279</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
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<a href="/geneMap/16/421?start=-3&limit=10&highlight=421">
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16q12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 19
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614844"> 614844 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Nephronophthisis 14
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614844"> 614844 </a>
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|
|
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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="Autosomal dominant">AD</abbr>, <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>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/604557" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604557" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>ZNF423 localizes to the ciliary transition zone and is also involved in DNA damage repair (<a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" 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 sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 277-286, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9872452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9872452</a>] [<a href="https://doi.org/10.1093/dnares/5.5.277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9872452">Nagase et al. (1998)</a> cloned ZNF423, which they designated KIAA0760. The deduced 1,206-amino acid protein shares significant similarity with rat Olf1/Ebf-associated zinc finger protein. RT-PCR ELISA detected high expression in brain, lung, skeletal muscle, and ovary, and intermediate expression in heart, liver, kidney, pancreas, spleen, and testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9872452" 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="Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A., Massague, J. <strong>OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.</strong> Cell 100: 229-240, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10660046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10660046</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81561-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10660046">Hata et al. (2000)</a> identified a 30-zinc finger protein, which they called OAZ, as a DNA-binding factor that associates with SMADs (see <a href="/entry/601595">601595</a>) in response to bone morphogenetic protein-2 (BMP2; <a href="/entry/112261">112261</a>), forming a complex that transcriptionally activates the homeobox regulator of Xenopus mesoderm and neural development, Xvent-2. Human OAZ is predicted to be a 1,224-amino acid protein containing a BMP-signaling module formed by 2 clusters of fingers that bind SMADs and the Xvent-2 BMP response element, respectively. Previously implicated as a transcriptional partner of OLF1/EBF in olfactory epithelium and lymphocyte development in the rat (<a href="#7" class="mim-tip-reference" title="Tsai, R. Y. L., Reed, R. R. <strong>Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development.</strong> J. Neurosci. 17: 4159-4169, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151733</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.17-11-04159.1997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9151733">Tsai and Reed, 1997</a>), OAZ fulfills this role in transcription through clusters of fingers that are separate from the BMP-signaling module. <a href="#5" class="mim-tip-reference" title="Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A., Massague, J. <strong>OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.</strong> Cell 100: 229-240, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10660046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10660046</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81561-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10660046">Hata et al. (2000)</a> showed that OAZ is a nuclear protein. In adult human tissues, Northern blot analysis detected a 7.5-kb OAZ transcript in brain, lung, skeletal muscle, heart, pancreas, and kidney, but not liver or placenta. A 5.5-kb OAZ transcript was also detected in heart and skeletal muscle. Analysis of additional human tissues revealed OAZ expression in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney, and adult brain, specifically in the substantia nigra, medulla, amygdala, thalamus, and cerebellum. <a href="#5" class="mim-tip-reference" title="Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A., Massague, J. <strong>OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.</strong> Cell 100: 229-240, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10660046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10660046</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81561-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10660046">Hata et al. (2000)</a> suggested that the mutually exclusive use of OAZ by the BMP-SMAD and OLF pathways illustrates the dual role of a multizinc finger protein in signal transduction during development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10660046+9151733" 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 radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 277-286, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9872452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9872452</a>] [<a href="https://doi.org/10.1093/dnares/5.5.277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9872452">Nagase et al. (1998)</a> mapped the ZNF423 gene to chromosome 16. <a href="#1" class="mim-tip-reference" title="Alcaraz, W. A., Gold, D. A., Raponi, E., Gent, P. M., Concepcion, D., Hamilton, B. A. <strong>Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.</strong> Proc. Nat. Acad. Sci. 103: 19424-19429, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17151198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17151198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17151198[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0609184103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17151198">Alcaraz et al. (2006)</a> stated that the mouse Zfp423 gene maps to chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9872452+17151198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gupta, R. K., Arany, Z., Seale, P., Mepani, R. J., Ye, L., Conroe, H. M., Roby, Y. A., Kulaga, H., Reed, R. R., Spiegelman, B. M. <strong>Transcriptional control of preadipocyte determination by Zfp423.</strong> Nature 464: 619-623, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20200519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20200519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20200519[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20200519">Gupta et al. (2010)</a> identified the zinc finger protein Zfp423 as a factor enriched in preadipose versus nonpreadipose fibroblasts. Ectopic expression of Zfp423 in nonadipogenic NIH 3T3 fibroblasts robustly activates expression of Ppar-gamma (PPARG; <a href="/entry/601487">601487</a>) in undifferentiated cells and permits cells to undergo adipocyte differentiation under permissive conditions. Short hairpin RNA-mediated reduction of Zfp423 expression in 3T3-L1 cells blunted preadipocyte Pparg expression and diminished the ability of those cells to differentiate. Furthermore, both brown and white adipocyte differentiation was markedly impaired in Zfp423-deficient mouse embryos. Zfp423 regulates Pparg expression, in part, through amplification of the BMP signaling pathway, an effect dependent on the SMAD-binding capacity of Zfp423. <a href="#4" class="mim-tip-reference" title="Gupta, R. K., Arany, Z., Seale, P., Mepani, R. J., Ye, L., Conroe, H. M., Roby, Y. A., Kulaga, H., Reed, R. R., Spiegelman, B. M. <strong>Transcriptional control of preadipocyte determination by Zfp423.</strong> Nature 464: 619-623, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20200519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20200519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20200519[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20200519">Gupta et al. (2010)</a> concluded that their study identified Zfp423 as a transcriptional regulator of preadipocyte determination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20200519" 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 analysis, <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> showed that human ZNF423 interacted directly with CEP290 (<a href="/entry/610142">610142</a>), which localizes to the ciliary transition zone. ZNF423 colocalized with the DNA damage response proteins TIP60 (KAT5; <a href="/entry/601409">601409</a>), SC35 (SRSF2; <a href="/entry/600813">600813</a>), and CEP164 (<a href="/entry/614848">614848</a>) and with NPHP10 (SDCCAG8; <a href="/entry/613524">613524</a>) at nuclear foci in immortalized human retinal pigment epithelial cells. Knockdown of Znf423 in mouse P19 cells resulted in increased radiation sensitivity compared with control cells. These findings indicated that ZNF423 plays a role in DNA damage response signaling and suggested that defects in DNA damage response may play a role in nephronophthisis-related ciliopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" 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="Zhang, L., Guerrero-Juarez, C. F., Hata, T., Bapat, S. P., Ramos, R., Plikus, M. V., Gallo, R. L. <strong>Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.</strong> Science 347: 67-71, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25554785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25554785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25554785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1260972" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25554785">Zhang et al. (2015)</a> observed rapid proliferation of preadipocytes and expansion of the dermal fat layer after infection of the skin by Staphylococcus aureus. Impaired adipogenesis resulted in increased infection as seen in Zfp423(nur12) mice or in mice given inhibitors of Pparg. This host defense function was mediated through the production of Camp (<a href="/entry/600474">600474</a>) from adipocytes, since cathelicidin expression was decreased by inhibition of adipogenesis and adipocytes from Camp-null mice lost the capacity to inhibit bacterial growth. <a href="#8" class="mim-tip-reference" title="Zhang, L., Guerrero-Juarez, C. F., Hata, T., Bapat, S. P., Ramos, R., Plikus, M. V., Gallo, R. L. <strong>Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.</strong> Science 347: 67-71, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25554785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25554785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25554785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1260972" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25554785">Zhang et al. (2015)</a> concluded that the production of an antimicrobial peptide by adipocytes is an important element for protection against S. aureus infection of the skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25554785" 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 homozygosity mapping and whole-exome sequencing of 2 Turkish sibs with nephronophthisis-14 (NPHP14; <a href="/entry/614844">614844</a>) manifest as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus, <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> identified a homozygous mutation in the ZNF423 gene (P913L; <a href="#0001">604557.0001</a>). The mutation was predicted to result in a loss of function. Two of 96 additional patients with Joubert syndrome (JBTS19; see <a href="/entry/614844">614844</a>) were found to carry heterozygous ZNF423 mutations (<a href="#0002">604557.0002</a> and <a href="#0003">604557.0003</a>). The heterozygous mutations caused a dominant-negative effect on protein function in cellular studies. <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> suggested that loss of function of proteins that have a dual role in centrosome and DNA repair signaling could cause a disturbance of cell-cycle checkpoint controls, which is detrimental to progenitor cell survival both during embryogenesis and later during tissue maintenance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The nur12 mouse, which was identified in a large chemical mutagenesis screen, has an ataxic gait and cerebellar hypoplasia, including agenesis of the vermis. By positional cloning, <a href="#1" class="mim-tip-reference" title="Alcaraz, W. A., Gold, D. A., Raponi, E., Gent, P. M., Concepcion, D., Hamilton, B. A. <strong>Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.</strong> Proc. Nat. Acad. Sci. 103: 19424-19429, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17151198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17151198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17151198[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0609184103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17151198">Alcaraz et al. (2006)</a> determined that nur12 is caused by a nonsense mutation in exon 4 of the mouse Zfp423 gene, resulting in loss of the corpus callosum, reduction of hippocampus, and a malformation of the cerebellum reminiscent of patients with Dandy-Walker syndrome (<a href="/entry/220200">220200</a>). Within the cerebellum, Zfp423 was expressed in both ventricular and external germinal zones. Loss of Zfp423 resulted in diminished proliferation by granule cell precursors in the external germinal layer, especially near the midline, and abnormal differentiation and migration of ventricular zone-derived neurons and Bergmann glia. <a href="#1" class="mim-tip-reference" title="Alcaraz, W. A., Gold, D. A., Raponi, E., Gent, P. M., Concepcion, D., Hamilton, B. A. <strong>Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.</strong> Proc. Nat. Acad. Sci. 103: 19424-19429, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17151198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17151198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17151198[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0609184103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17151198">Alcaraz et al. (2006)</a> concluded that ZNF423 is required for patterning the development of neuronal and glial precursors in the developing brain, particularly in midline structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17151198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cheng, L. E., Reed, R. R. <strong>Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.</strong> Neuron 54: 547-557, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17521568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17521568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17521568[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.neuron.2007.04.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17521568">Cheng and Reed (2007)</a> found that Znf423 -/- mice exhibited profound cerebellar defects and died by about 4 weeks. In the developing olfactory epithelium, Znf423 was expressed in newly differentiating olfactory receptor neurons, and knockout of Znf423 reduced the number of mature olfactory neurons due to elevated apoptosis and impaired axonal projections to the olfactory bulb. In mice with sustained Znf423 overexpression, they found arrested olfactory neuron maturation and perturbed immature and mature olfactory neuron gene expression patterns. <a href="#3" class="mim-tip-reference" title="Cheng, L. E., Reed, R. R. <strong>Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.</strong> Neuron 54: 547-557, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17521568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17521568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17521568[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.neuron.2007.04.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17521568">Cheng and Reed (2007)</a> concluded that ZNF423 participates in a developmental switch that regulates the transition from differentiation to maturation in olfactory neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17521568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Turkish sibs, born of consanguineous parents, with nephronophthisis-14 (NPHP14; <a href="/entry/614844">614844</a>) manifest as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus, <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> identified a homozygous 2738C-T transition in exon 5 of the ZNF423 gene, resulting in a pro913-to-leu (P913L) substitution in a highly conserved residue between zinc fingers 21 and 22, likely resulting in loss of function. The mutation was found by homozygosity mapping combined with whole-exome sequencing, and was not found in more than 270 controls or in the exome variant server database. <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> referred to these patients as having an NPHP-related ciliopathy, despite the presence of cerebellar vermis hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" 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 an Icelandic patient with Joubert syndrome-19 (JBTS19; see <a href="/entry/614844">614844</a>) manifest as polycystic kidney disease, Leber congenital amaurosis, and cerebellar vermis hypoplasia, <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> identified a heterozygous 1-bp deletion (1518delC) in exon 5 of the ZNF423 gene, resulting in a frameshift, premature termination (Pro506fsTer43), and the removal of several zinc fingers important for interactions with other factors. The patient had no sibs and parental DNA was not available for study. The mutation was not found in more than 270 controls or in the exome variant server database. In vitro cellular expression studies showed that the mutation reduced the mitotic index and yielded a dominant-negative effect. The truncation also abrogated the interaction of ZNF423 with PARP1 (<a href="/entry/173870">173870</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1596988259 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1596988259;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=rs1596988259" 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=rs1596988259" 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=RCV000030828" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030828" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030828</a>
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<p>In a patient with JBTS19 (see <a href="/entry/614844">614844</a>) manifest as polycystic kidney disease, retinal degeneration, cerebellar vermis hypoplasia, and perinatal breathing abnormality, <a href="#2" class="mim-tip-reference" title="Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others. <strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong> Cell 150: 533-548, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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.cell.2012.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22863007">Chaki et al. (2012)</a> identified a heterozygous 3829C-T transition in exon 9 of the ZNF423 gene, resulting in a his1277-to-tyr (H1277Y) substitution at a highly conserved residue in the terminal zinc finger domain important for interaction with other factors. The patient had no sibs and parental DNA was not available for study. The mutation was not found in more than 270 controls or in the exome variant server database. In vitro cellular expression studies showed that the H1277Y mutation reduced the mitotic index and yielded a dominant-negative effect. The mutation also inhibited multimerization of ZNF423. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22863007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Alcaraz2006" class="mim-anchor"></a>
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<div class="">
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Alcaraz, W. A., Gold, D. A., Raponi, E., Gent, P. M., Concepcion, D., Hamilton, B. A.
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<strong>Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.</strong>
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Proc. Nat. Acad. Sci. 103: 19424-19429, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17151198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17151198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17151198[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=17151198" 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/10.1073/pnas.0609184103" target="_blank">Full Text</a>]
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<a id="Chaki2012" class="mim-anchor"></a>
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Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others.
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<strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong>
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Cell 150: 533-548, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22863007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22863007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22863007[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=22863007" 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.cell.2012.06.028" target="_blank">Full Text</a>]
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Cheng, L. E., Reed, R. R.
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<strong>Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.</strong>
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Neuron 54: 547-557, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17521568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17521568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17521568[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=17521568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2007.04.029" target="_blank">Full Text</a>]
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<a id="Gupta2010" class="mim-anchor"></a>
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Gupta, R. K., Arany, Z., Seale, P., Mepani, R. J., Ye, L., Conroe, H. M., Roby, Y. A., Kulaga, H., Reed, R. R., Spiegelman, B. M.
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<strong>Transcriptional control of preadipocyte determination by Zfp423.</strong>
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Nature 464: 619-623, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20200519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20200519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20200519[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=20200519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature08816" target="_blank">Full Text</a>]
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Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A., Massague, J.
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<strong>OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.</strong>
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Cell 100: 229-240, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10660046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10660046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10660046" 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/s0092-8674(00)81561-5" target="_blank">Full Text</a>]
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 277-286, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9872452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9872452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9872452" 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/dnares/5.5.277" target="_blank">Full Text</a>]
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Tsai, R. Y. L., Reed, R. R.
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<strong>Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9151733" 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/10.1523/JNEUROSCI.17-11-04159.1997" target="_blank">Full Text</a>]
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Zhang, L., Guerrero-Juarez, C. F., Hata, T., Bapat, S. P., Ramos, R., Plikus, M. V., Gallo, R. L.
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<strong>Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.</strong>
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Science 347: 67-71, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25554785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25554785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25554785[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=25554785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1260972" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 01/15/2015
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Cassandra L. Kniffin - updated : 10/4/2012<br>Patricia A. Hartz - updated : 8/20/2010<br>Ada Hamosh - updated : 4/28/2010<br>Patricia A. Hartz - updated : 4/30/2007
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Stylianos E. Antonarakis : 2/16/2000
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ckniffin : 2/17/2014<br>carol : 9/26/2013<br>terry : 10/8/2012<br>carol : 10/8/2012<br>terry : 10/5/2012<br>mgross : 10/5/2012<br>ckniffin : 10/4/2012<br>wwang : 9/15/2010<br>terry : 8/20/2010<br>alopez : 4/30/2010<br>terry : 4/28/2010<br>wwang : 4/30/2007<br>alopez : 2/27/2006<br>terry : 3/18/2004<br>mcapotos : 8/9/2000<br>mgross : 2/16/2000
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ZINC FINGER PROTEIN 423; ZNF423
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ZINC FINGER PROTEIN 423, MOUSE, HOMOLOG OF; ZFP423<br />
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OLF1/EBF-ASSOCIATED ZINC FINGER PROTEIN; OAZ<br />
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KIAA0760
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZNF423</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:49,487,524-49,859,279 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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|
Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
|
16q12.1
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Joubert syndrome 19
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
614844
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal dominant; Autosomal recessive
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Nephronophthisis 14
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614844
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
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|
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>ZNF423 localizes to the ciliary transition zone and is also involved in DNA damage repair (Chaki et al., 2012). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) cloned ZNF423, which they designated KIAA0760. The deduced 1,206-amino acid protein shares significant similarity with rat Olf1/Ebf-associated zinc finger protein. RT-PCR ELISA detected high expression in brain, lung, skeletal muscle, and ovary, and intermediate expression in heart, liver, kidney, pancreas, spleen, and testis. </p><p>Hata et al. (2000) identified a 30-zinc finger protein, which they called OAZ, as a DNA-binding factor that associates with SMADs (see 601595) in response to bone morphogenetic protein-2 (BMP2; 112261), forming a complex that transcriptionally activates the homeobox regulator of Xenopus mesoderm and neural development, Xvent-2. Human OAZ is predicted to be a 1,224-amino acid protein containing a BMP-signaling module formed by 2 clusters of fingers that bind SMADs and the Xvent-2 BMP response element, respectively. Previously implicated as a transcriptional partner of OLF1/EBF in olfactory epithelium and lymphocyte development in the rat (Tsai and Reed, 1997), OAZ fulfills this role in transcription through clusters of fingers that are separate from the BMP-signaling module. Hata et al. (2000) showed that OAZ is a nuclear protein. In adult human tissues, Northern blot analysis detected a 7.5-kb OAZ transcript in brain, lung, skeletal muscle, heart, pancreas, and kidney, but not liver or placenta. A 5.5-kb OAZ transcript was also detected in heart and skeletal muscle. Analysis of additional human tissues revealed OAZ expression in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney, and adult brain, specifically in the substantia nigra, medulla, amygdala, thalamus, and cerebellum. Hata et al. (2000) suggested that the mutually exclusive use of OAZ by the BMP-SMAD and OLF pathways illustrates the dual role of a multizinc finger protein in signal transduction during development. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the ZNF423 gene to chromosome 16. Alcaraz et al. (2006) stated that the mouse Zfp423 gene maps to chromosome 8. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gupta et al. (2010) identified the zinc finger protein Zfp423 as a factor enriched in preadipose versus nonpreadipose fibroblasts. Ectopic expression of Zfp423 in nonadipogenic NIH 3T3 fibroblasts robustly activates expression of Ppar-gamma (PPARG; 601487) in undifferentiated cells and permits cells to undergo adipocyte differentiation under permissive conditions. Short hairpin RNA-mediated reduction of Zfp423 expression in 3T3-L1 cells blunted preadipocyte Pparg expression and diminished the ability of those cells to differentiate. Furthermore, both brown and white adipocyte differentiation was markedly impaired in Zfp423-deficient mouse embryos. Zfp423 regulates Pparg expression, in part, through amplification of the BMP signaling pathway, an effect dependent on the SMAD-binding capacity of Zfp423. Gupta et al. (2010) concluded that their study identified Zfp423 as a transcriptional regulator of preadipocyte determination. </p><p>Using yeast 2-hybrid analysis, Chaki et al. (2012) showed that human ZNF423 interacted directly with CEP290 (610142), which localizes to the ciliary transition zone. ZNF423 colocalized with the DNA damage response proteins TIP60 (KAT5; 601409), SC35 (SRSF2; 600813), and CEP164 (614848) and with NPHP10 (SDCCAG8; 613524) at nuclear foci in immortalized human retinal pigment epithelial cells. Knockdown of Znf423 in mouse P19 cells resulted in increased radiation sensitivity compared with control cells. These findings indicated that ZNF423 plays a role in DNA damage response signaling and suggested that defects in DNA damage response may play a role in nephronophthisis-related ciliopathies. </p><p>Zhang et al. (2015) observed rapid proliferation of preadipocytes and expansion of the dermal fat layer after infection of the skin by Staphylococcus aureus. Impaired adipogenesis resulted in increased infection as seen in Zfp423(nur12) mice or in mice given inhibitors of Pparg. This host defense function was mediated through the production of Camp (600474) from adipocytes, since cathelicidin expression was decreased by inhibition of adipogenesis and adipocytes from Camp-null mice lost the capacity to inhibit bacterial growth. Zhang et al. (2015) concluded that the production of an antimicrobial peptide by adipocytes is an important element for protection against S. aureus infection of the skin. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By homozygosity mapping and whole-exome sequencing of 2 Turkish sibs with nephronophthisis-14 (NPHP14; 614844) manifest as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus, Chaki et al. (2012) identified a homozygous mutation in the ZNF423 gene (P913L; 604557.0001). The mutation was predicted to result in a loss of function. Two of 96 additional patients with Joubert syndrome (JBTS19; see 614844) were found to carry heterozygous ZNF423 mutations (604557.0002 and 604557.0003). The heterozygous mutations caused a dominant-negative effect on protein function in cellular studies. Chaki et al. (2012) suggested that loss of function of proteins that have a dual role in centrosome and DNA repair signaling could cause a disturbance of cell-cycle checkpoint controls, which is detrimental to progenitor cell survival both during embryogenesis and later during tissue maintenance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The nur12 mouse, which was identified in a large chemical mutagenesis screen, has an ataxic gait and cerebellar hypoplasia, including agenesis of the vermis. By positional cloning, Alcaraz et al. (2006) determined that nur12 is caused by a nonsense mutation in exon 4 of the mouse Zfp423 gene, resulting in loss of the corpus callosum, reduction of hippocampus, and a malformation of the cerebellum reminiscent of patients with Dandy-Walker syndrome (220200). Within the cerebellum, Zfp423 was expressed in both ventricular and external germinal zones. Loss of Zfp423 resulted in diminished proliferation by granule cell precursors in the external germinal layer, especially near the midline, and abnormal differentiation and migration of ventricular zone-derived neurons and Bergmann glia. Alcaraz et al. (2006) concluded that ZNF423 is required for patterning the development of neuronal and glial precursors in the developing brain, particularly in midline structures. </p><p>Cheng and Reed (2007) found that Znf423 -/- mice exhibited profound cerebellar defects and died by about 4 weeks. In the developing olfactory epithelium, Znf423 was expressed in newly differentiating olfactory receptor neurons, and knockout of Znf423 reduced the number of mature olfactory neurons due to elevated apoptosis and impaired axonal projections to the olfactory bulb. In mice with sustained Znf423 overexpression, they found arrested olfactory neuron maturation and perturbed immature and mature olfactory neuron gene expression patterns. Cheng and Reed (2007) concluded that ZNF423 participates in a developmental switch that regulates the transition from differentiation to maturation in olfactory neurons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NEPHRONOPHTHISIS 14</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF423, PRO913LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200585917,
|
|
|
|
|
|
gnomAD: rs200585917,
|
|
|
|
|
|
ClinVar: RCV000030826
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish sibs, born of consanguineous parents, with nephronophthisis-14 (NPHP14; 614844) manifest as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus, Chaki et al. (2012) identified a homozygous 2738C-T transition in exon 5 of the ZNF423 gene, resulting in a pro913-to-leu (P913L) substitution in a highly conserved residue between zinc fingers 21 and 22, likely resulting in loss of function. The mutation was found by homozygosity mapping combined with whole-exome sequencing, and was not found in more than 270 controls or in the exome variant server database. Chaki et al. (2012) referred to these patients as having an NPHP-related ciliopathy, despite the presence of cerebellar vermis hypoplasia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 JOUBERT SYNDROME 19</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF423, 1-BP DEL, 1518C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1596763347,
|
|
|
|
|
|
|
|
ClinVar: RCV000030827
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Icelandic patient with Joubert syndrome-19 (JBTS19; see 614844) manifest as polycystic kidney disease, Leber congenital amaurosis, and cerebellar vermis hypoplasia, Chaki et al. (2012) identified a heterozygous 1-bp deletion (1518delC) in exon 5 of the ZNF423 gene, resulting in a frameshift, premature termination (Pro506fsTer43), and the removal of several zinc fingers important for interactions with other factors. The patient had no sibs and parental DNA was not available for study. The mutation was not found in more than 270 controls or in the exome variant server database. In vitro cellular expression studies showed that the mutation reduced the mitotic index and yielded a dominant-negative effect. The truncation also abrogated the interaction of ZNF423 with PARP1 (173870). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 JOUBERT SYNDROME 19</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZNF423, HIS1277TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1596988259,
|
|
|
|
|
|
|
|
ClinVar: RCV000030828
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with JBTS19 (see 614844) manifest as polycystic kidney disease, retinal degeneration, cerebellar vermis hypoplasia, and perinatal breathing abnormality, Chaki et al. (2012) identified a heterozygous 3829C-T transition in exon 9 of the ZNF423 gene, resulting in a his1277-to-tyr (H1277Y) substitution at a highly conserved residue in the terminal zinc finger domain important for interaction with other factors. The patient had no sibs and parental DNA was not available for study. The mutation was not found in more than 270 controls or in the exome variant server database. In vitro cellular expression studies showed that the H1277Y mutation reduced the mitotic index and yielded a dominant-negative effect. The mutation also inhibited multimerization of ZNF423. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
</div>
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alcaraz, W. A., Gold, D. A., Raponi, E., Gent, P. M., Concepcion, D., Hamilton, B. A.
|
|
<strong>Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 19424-19429, 2006.
|
|
|
|
|
|
[PubMed: 17151198]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0609184103]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., and 61 others.
|
|
<strong>Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.</strong>
|
|
Cell 150: 533-548, 2012.
|
|
|
|
|
|
[PubMed: 22863007]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2012.06.028]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cheng, L. E., Reed, R. R.
|
|
<strong>Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.</strong>
|
|
Neuron 54: 547-557, 2007.
|
|
|
|
|
|
[PubMed: 17521568]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.neuron.2007.04.029]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gupta, R. K., Arany, Z., Seale, P., Mepani, R. J., Ye, L., Conroe, H. M., Roby, Y. A., Kulaga, H., Reed, R. R., Spiegelman, B. M.
|
|
<strong>Transcriptional control of preadipocyte determination by Zfp423.</strong>
|
|
Nature 464: 619-623, 2010.
|
|
|
|
|
|
[PubMed: 20200519]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature08816]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hata, A., Seoane, J., Lagna, G., Montalvo, E., Hemmati-Brivanlou, A., Massague, J.
|
|
<strong>OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.</strong>
|
|
Cell 100: 229-240, 2000.
|
|
|
|
|
|
[PubMed: 10660046]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)81561-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Tsai, R. Y. L., Reed, R. R.
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<strong>Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development.</strong>
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Zhang, L., Guerrero-Juarez, C. F., Hata, T., Bapat, S. P., Ramos, R., Plikus, M. V., Gallo, R. L.
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<strong>Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.</strong>
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Science 347: 67-71, 2015.
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[PubMed: 25554785]
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[Full Text: https://doi.org/10.1126/science.1260972]
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Ada Hamosh - updated : 01/15/2015<br>Cassandra L. Kniffin - updated : 10/4/2012<br>Patricia A. Hartz - updated : 8/20/2010<br>Ada Hamosh - updated : 4/28/2010<br>Patricia A. Hartz - updated : 4/30/2007
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Stylianos E. Antonarakis : 2/16/2000
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