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Entry
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- *600727 - NUCLEAR FACTOR I/A; NFIA
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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">*600727</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600727">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000162599;t=ENST00000403491" 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=4774" 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=600727" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000162599;t=ENST00000403491" 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_001134673,NM_001145511,NM_001145512,NM_005595" 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_001134673" 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=600727" 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=09007&isoform_id=09007_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/NFIA" 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/469037,14194959,18490343,30840980,52545580,119627006,119627007,119627008,119627009,194387784,194387876,194388996,197927284,224465182,224465184,929654542" 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/Q12857" 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=4774" 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=ENSG00000162599;t=ENST00000403491" 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=NFIA" 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=NFIA" 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+4774" 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/NFIA" 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:4774" 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/4774" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000403491.8&hgg_start=61077227&hgg_end=61462788&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7784" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7784" 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=600727[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=600727[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/NFIA/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/ENSG00000162599" 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=NFIA" 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=NFIA" 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=NFIA" 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=NFIA&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/PA31590" 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:7784" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0042696.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:108056" 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/NFIA#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:108056" 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/4774/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=4774" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003592;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050208-501" 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=NFIA&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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600727
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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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NUCLEAR FACTOR I/A; NFIA
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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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TRANSCRIPTION FACTOR NFIA<br />
|
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KIAA1439
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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=NFIA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NFIA</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/669?start=-3&limit=10&highlight=669">1p31.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:61077227-61462788&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:61,077,227-61,462,788</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="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/669?start=-3&limit=10&highlight=669">
|
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1p31.3
|
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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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Brain malformations with or without urinary tract defects
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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/613735"> 613735 </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>
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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/600727" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600727" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<p>Nuclear factor I (NFI) proteins, such as NFIA, constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization (summary by <a href="#9" class="mim-tip-reference" title="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" 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="#9" class="mim-tip-reference" title="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al. (1995)</a> isolated partial cDNA sequences derived from 4 independent genes: NFIA, NFIB (<a href="/entry/600728">600728</a>), NFIC (<a href="/entry/600729">600729</a>), and NFIX (<a href="/entry/164005">164005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By sequencing clones obtained from an adult brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 65-73, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>] [<a href="https://doi.org/10.1093/dnares/7.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10718198">Nagase et al. (2000)</a> cloned NFIA, which they designated KIAA1439. The deduced protein contains 561 amino acids and shares complete sequence identity with rat nuclear factor-1 over 509 amino acids. RT-PCR ELISA detected moderate to high expression in all tissues examined. Highest expression was detected in heart and liver, followed by brain, lung, ovary, skeletal muscle, kidney, testis, fetal liver, fetal brain, pancreas, and spleen. NFIA was expressed at moderate to high levels in all adult brain regions tested, with highest expression in cerebellum and caudate nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By ortholog comparisons using protein sequences from 7 vertebrate species, <a href="#4" class="mim-tip-reference" title="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> identified 12 NFIA variants that are produced by alternative splicing. All of the 5 human NFIA splice variants identified encode proteins with 4 conserved cysteines in an N-terminal DNA-binding domain, and all but 1 were predicted to have a nuclear localization signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> determined that the NFIA gene contains 11 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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 FISH, <a href="#9" class="mim-tip-reference" title="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al. (1995)</a> mapped the NFIA and NFIB genes to chromosomes 1p31.3-p31.2 and 9p24.1, respectively. They localized the NFIC and NFIX genes to chromosome 19p13.3 in the order cen--NFIX--NFIC--tel. Comparison of the position of NFI genes and JUN genes (see JUNB, <a href="/entry/165161">165161</a>) revealed a close physical linkage between members of the NFI and JUN gene families in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By FISH, <a href="#4" class="mim-tip-reference" title="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> mapped the mouse Nfia and Nfib genes to chromosome 4C4-C6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Deneen, B., Ho, R., Lukaszewicz, A., Hochstim, C. J., Gronostajski, R. M., Anderson, D. J. <strong>The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord.</strong> Neuron 52: 953-968, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17178400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17178400</a>] [<a href="https://doi.org/10.1016/j.neuron.2006.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17178400">Deneen et al. (2006)</a> found that Nfia and Nfib were induced in the spinal cord ventricular zone of mouse embryos concomitant with induction of Glast (SLC1A3; <a href="/entry/600111">600111</a>), a marker of gliogenesis. Using mouse and chicken embryos and embryonic rat cortical progenitor cells, they showed that Nfia and Nfib were necessary and sufficient to promote glial cell fate specification. At later embryonic stages, Nfia and Nfib promoted terminal astrocyte differentiation. Nfia also inhibited neurogenesis in ventricular zone progenitors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17178400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Rosa, A., Ballarino, M., Sorrentino, A., Sthandier, O., De Angelis, F. G., Marchioni, M., Masella, B., Guarini, A., Fatica, A., Peschle, C., Bozzoni, I. <strong>The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.</strong> Proc. Nat. Acad. Sci. 104: 19849-19854, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18056638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18056638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18056638[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.0706963104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18056638">Rosa et al. (2007)</a> identified a pathway by which PU.1 (SPI1; <a href="/entry/165170">165170</a>) regulated human monocyte/macrophage differentiation. PU.1 activated transcription of MIR424 (<a href="/entry/300682">300682</a>), which translationally repressed NFIA, resulting in activation of differentiation-specific genes, such as MCSFR (CSF1R; <a href="/entry/164770">164770</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18056638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others. <strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong> PLoS Genet. 3: e80, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.0030080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17530927">Lu et al. (2007)</a> reported 5 patients, including 2 half sibs, with balanced translocations or interstitial deletions of chromosome 1q31-q32 (<a href="/entry/613735">613735</a>) involving the NFIA gene confirmed by FISH and Southern blot analysis. Three of the patients had been previously reported by <a href="#1" class="mim-tip-reference" title="Campbell, C. G. N., Wang, H., Hunter, G. W. <strong>Interstitial microdeletion of chromosome 1p in two siblings.</strong> Am. J. Med. Genet. 111: 289-294, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210325</a>] [<a href="https://doi.org/10.1002/ajmg.10595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210325">Campbell et al. (2002)</a> and <a href="#12" class="mim-tip-reference" title="Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B. <strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong> Am. J. Med. Genet. 131A: 29-35, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368480</a>] [<a href="https://doi.org/10.1002/ajmg.a.30311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368480">Shanske et al. (2004)</a>. The 2 half sibs had a 12-Mb deletion involving approximately 47 additional genes, and another patient had a 12-Mb deletion of chromosome 2q encompassing 39 additional genes, as well as a translocation involving chromosome 1p. The remaining 2 patients had a translocation with a microdeletion and a translocation, respectively. All 5 showed a similar phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. Four patients had a tethered spinal cord, 3 had Chiari type I malformation, and 3 had seizures. In addition, 3 patients had urinary tract defects, including vesicoureteral reflux and urinary incontinence. Although all 5 cases had haploinsufficiency of NFIA, each case also had involvement of 1 or more additional genes, which may have contributed to the phenotype. Intragenic mutations in the NFIA gene were not identified in any of the patients or in 219 additional patients with various neurologic developmental abnormalities. <a href="#5" class="mim-tip-reference" title="Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others. <strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong> PLoS Genet. 3: e80, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.0030080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17530927">Lu et al. (2007)</a> noted the phenotypic similarities to Nfia loss of function in the mouse and suggested that haploinsufficiency of the NFIA gene contributed to the malformation syndrome in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15368480+12210325+17530927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Brain Malformations with or without Urinary Tract Defects</em></strong></p><p>
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In a girl with brain malformations and urinary tract defects (BRMUTD; <a href="/entry/613735">613735</a>), <a href="#10" class="mim-tip-reference" title="Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H. <strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong> Europ. J. Med. Genet. 57: 65-70, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24462883">Rao et al. (2014)</a> identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene (<a href="#0001">600727.0001</a>). The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese boy with brain malformations and urinary tract defects, <a href="#7" class="mim-tip-reference" title="Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S. <strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong> Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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/hgv.2015.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27081522">Negishi et al. (2015)</a> identified a de novo heterozygous frameshift mutation in the NFIA gene (<a href="#0002">600727.0002</a>). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27081522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 members of a family with BRMUTD, <a href="#8" class="mim-tip-reference" title="Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B. <strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong> Clin. Dysmorph. 24: 109-112, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714559">Nyboe et al. (2015)</a> identified a heterozygous 109-kb intragenic deletion affecting exons 1 and 2 of the NFIA gene (<a href="#0003">600727.0003</a>). The deletion in the proband was found by array CGH analysis and confirmed in her father and her 2 sibs by quantitative PCR. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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="#2" class="mim-tip-reference" title="das Neves, L., Duchala, C. S., Godinho, F., Haxhiu, M. A., Colmenares, C., Macklin, W. B., Campbell, C. E., Butz, K. G., Gronostajski, R. M. <strong>Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.</strong> Proc. Nat. Acad. Sci. 96: 11946-11951, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 98: 4276 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10518556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10518556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10518556[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.96.21.11946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10518556">Das Neves et al. (1999)</a> found that disruption of the mouse Nfia gene caused perinatal lethality. More than 95% of Nfia null animals died within 2 weeks after birth. Newborn animals lacked a corpus callosum and showed ventricular dilation indicating early hydrocephalus. Rare surviving homozygous mice lacked a corpus callosum, showed severe communicating hydrocephalus, a full-axial tremor indicative of neurologic defects, male sterility, and low female fertility, but they had near normal life spans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10518556" 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 a girl with brain malformations and urinary tract defects (BRMUTD; <a href="/entry/613735">613735</a>), <a href="#10" class="mim-tip-reference" title="Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H. <strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong> Europ. J. Med. Genet. 57: 65-70, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24462883">Rao et al. (2014)</a> identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene, resulting in an in-frame deletion of exons 4 through 9. The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" 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 a Japanese boy with brain malformations and urinary tract defects (BRMUTD; <a href="/entry/613735">613735</a>), <a href="#7" class="mim-tip-reference" title="Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S. <strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong> Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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/hgv.2015.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27081522">Negishi et al. (2015)</a> identified a de novo heterozygous 1-bp deletion (c.1094delC, NM_001134673.3) in the NFIA gene, resulting in a frameshift and premature termination (Pro365HisfsTer32). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 138), 1000 Genomes Project, or Exome Sequencing Project databases or in 154 Japanese controls. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27081522" 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 4 members of a family with brain malformations with or without urinary tract defects (BRMUTD; <a href="/entry/613735">613735</a>), <a href="#8" class="mim-tip-reference" title="Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B. <strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong> Clin. Dysmorph. 24: 109-112, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714559">Nyboe et al. (2015)</a> identified heterozygosity for a 109-kb intragenic deletion (chr1.61,497,698-61,607,171, GRCh37) that affected exons 1 and 2 of the NFIA gene. The deletion in the proband was found by array CGH analysis and confirmed in her father and her 2 sibs by quantitative PCR. Only the father and 1 sib had urinary tract defects. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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das Neves, L., Duchala, C. S., Godinho, F., Haxhiu, M. A., Colmenares, C., Macklin, W. B., Campbell, C. E., Butz, K. G., Gronostajski, R. M.
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<strong>Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.</strong>
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Proc. Nat. Acad. Sci. 96: 11946-11951, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 98: 4276 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10518556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10518556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10518556[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=10518556" 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.96.21.11946" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Deneen2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Deneen, B., Ho, R., Lukaszewicz, A., Hochstim, C. J., Gronostajski, R. M., Anderson, D. J.
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|
<strong>The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord.</strong>
|
|
Neuron 52: 953-968, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17178400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17178400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17178400" 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.2006.11.019" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Grunder2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E.
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<strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong>
|
|
Gene 304: 171-181, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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/s0378-1119(02)01204-0" target="_blank">Full Text</a>]
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Lu2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others.
|
|
<strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong>
|
|
PLoS Genet. 3: e80, 2007. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[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=17530927" 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/10.1371/journal.pgen.0030080" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Nagase2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 65-73, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" 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/7.1.65" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Negishi2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S.
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|
<strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong>
|
|
Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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=27081522" 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/hgv.2015.7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Nyboe2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B.
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<strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong>
|
|
Clin. Dysmorph. 24: 109-112, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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/10.1097/MCD.0000000000000079" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Qian1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Qian, F., Kruse, U., Lichter, P., Sippel, A. E.
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<strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong>
|
|
Genomics 28: 66-73, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Rao2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H.
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<strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong>
|
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Europ. J. Med. Genet. 57: 65-70, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" 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.ejmg.2013.12.011" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Rosa2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosa, A., Ballarino, M., Sorrentino, A., Sthandier, O., De Angelis, F. G., Marchioni, M., Masella, B., Guarini, A., Fatica, A., Peschle, C., Bozzoni, I.
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<strong>The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.</strong>
|
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Proc. Nat. Acad. Sci. 104: 19849-19854, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18056638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18056638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18056638[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=18056638" 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.0706963104" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Shanske2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B.
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<strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong>
|
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Am. J. Med. Genet. 131A: 29-35, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30311" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Michael Muriello - updated : 10/30/2017
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</span>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 07/12/2017<br>Cassandra L. Kniffin - updated : 04/13/2017<br>Patricia A. Hartz - updated : 2/4/2011<br>Paul J. Converse - updated : 2/7/2008<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Patricia A. Hartz - updated : 4/1/2003
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/17/1995
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/31/2017
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/30/2017<br>alopez : 07/12/2017<br>alopez : 07/12/2017<br>carol : 04/20/2017<br>ckniffin : 04/13/2017<br>mgross : 02/08/2011<br>ckniffin : 2/8/2011<br>terry : 2/4/2011<br>terry : 1/20/2010<br>mgross : 2/7/2008<br>wwang : 7/16/2007<br>ckniffin : 7/10/2007<br>mgross : 4/3/2003<br>terry : 4/1/2003<br>mark : 8/17/1995
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600727
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<h3>
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<span class="mim-font">
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NUCLEAR FACTOR I/A; NFIA
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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TRANSCRIPTION FACTOR NFIA<br />
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KIAA1439
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NFIA</em></strong>
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</span>
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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: 1p31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:61,077,227-61,462,788 </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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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p31.3
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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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Brain malformations with or without urinary tract defects
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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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613735
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nuclear factor I (NFI) proteins, such as NFIA, constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization (summary by Qian et al., 1995). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Qian et al. (1995) isolated partial cDNA sequences derived from 4 independent genes: NFIA, NFIB (600728), NFIC (600729), and NFIX (164005). </p><p>By sequencing clones obtained from an adult brain cDNA library, Nagase et al. (2000) cloned NFIA, which they designated KIAA1439. The deduced protein contains 561 amino acids and shares complete sequence identity with rat nuclear factor-1 over 509 amino acids. RT-PCR ELISA detected moderate to high expression in all tissues examined. Highest expression was detected in heart and liver, followed by brain, lung, ovary, skeletal muscle, kidney, testis, fetal liver, fetal brain, pancreas, and spleen. NFIA was expressed at moderate to high levels in all adult brain regions tested, with highest expression in cerebellum and caudate nucleus. </p><p>By ortholog comparisons using protein sequences from 7 vertebrate species, Grunder et al. (2003) identified 12 NFIA variants that are produced by alternative splicing. All of the 5 human NFIA splice variants identified encode proteins with 4 conserved cysteines in an N-terminal DNA-binding domain, and all but 1 were predicted to have a nuclear localization signal. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Grunder et al. (2003) determined that the NFIA gene contains 11 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By FISH, Qian et al. (1995) mapped the NFIA and NFIB genes to chromosomes 1p31.3-p31.2 and 9p24.1, respectively. They localized the NFIC and NFIX genes to chromosome 19p13.3 in the order cen--NFIX--NFIC--tel. Comparison of the position of NFI genes and JUN genes (see JUNB, 165161) revealed a close physical linkage between members of the NFI and JUN gene families in the human genome. </p><p>By FISH, Grunder et al. (2003) mapped the mouse Nfia and Nfib genes to chromosome 4C4-C6. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Deneen et al. (2006) found that Nfia and Nfib were induced in the spinal cord ventricular zone of mouse embryos concomitant with induction of Glast (SLC1A3; 600111), a marker of gliogenesis. Using mouse and chicken embryos and embryonic rat cortical progenitor cells, they showed that Nfia and Nfib were necessary and sufficient to promote glial cell fate specification. At later embryonic stages, Nfia and Nfib promoted terminal astrocyte differentiation. Nfia also inhibited neurogenesis in ventricular zone progenitors. </p><p>Rosa et al. (2007) identified a pathway by which PU.1 (SPI1; 165170) regulated human monocyte/macrophage differentiation. PU.1 activated transcription of MIR424 (300682), which translationally repressed NFIA, resulting in activation of differentiation-specific genes, such as MCSFR (CSF1R; 164770). </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<span class="mim-text-font">
|
|
<p>Lu et al. (2007) reported 5 patients, including 2 half sibs, with balanced translocations or interstitial deletions of chromosome 1q31-q32 (613735) involving the NFIA gene confirmed by FISH and Southern blot analysis. Three of the patients had been previously reported by Campbell et al. (2002) and Shanske et al. (2004). The 2 half sibs had a 12-Mb deletion involving approximately 47 additional genes, and another patient had a 12-Mb deletion of chromosome 2q encompassing 39 additional genes, as well as a translocation involving chromosome 1p. The remaining 2 patients had a translocation with a microdeletion and a translocation, respectively. All 5 showed a similar phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. Four patients had a tethered spinal cord, 3 had Chiari type I malformation, and 3 had seizures. In addition, 3 patients had urinary tract defects, including vesicoureteral reflux and urinary incontinence. Although all 5 cases had haploinsufficiency of NFIA, each case also had involvement of 1 or more additional genes, which may have contributed to the phenotype. Intragenic mutations in the NFIA gene were not identified in any of the patients or in 219 additional patients with various neurologic developmental abnormalities. Lu et al. (2007) noted the phenotypic similarities to Nfia loss of function in the mouse and suggested that haploinsufficiency of the NFIA gene contributed to the malformation syndrome in these patients. </p><p><strong><em>Brain Malformations with or without Urinary Tract Defects</em></strong></p><p>
|
|
In a girl with brain malformations and urinary tract defects (BRMUTD; 613735), Rao et al. (2014) identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene (600727.0001). The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p><p>In a Japanese boy with brain malformations and urinary tract defects, Negishi et al. (2015) identified a de novo heterozygous frameshift mutation in the NFIA gene (600727.0002). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p><p>In 4 members of a family with BRMUTD, Nyboe et al. (2015) identified a heterozygous 109-kb intragenic deletion affecting exons 1 and 2 of the NFIA gene (600727.0003). The deletion in the proband was found by array CGH analysis and confirmed in her father and her 2 sibs by quantitative PCR. Functional studies were not performed. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Das Neves et al. (1999) found that disruption of the mouse Nfia gene caused perinatal lethality. More than 95% of Nfia null animals died within 2 weeks after birth. Newborn animals lacked a corpus callosum and showed ventricular dilation indicating early hydrocephalus. Rare surviving homozygous mice lacked a corpus callosum, showed severe communicating hydrocephalus, a full-axial tremor indicative of neurologic defects, male sterility, and low female fertility, but they had near normal life spans. </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 BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIA, 120-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV004564159
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with brain malformations and urinary tract defects (BRMUTD; 613735), Rao et al. (2014) identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene, resulting in an in-frame deletion of exons 4 through 9. The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIA, 1-BP DEL, 1094C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1060505054,
|
|
|
|
|
|
|
|
ClinVar: RCV004564160
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese boy with brain malformations and urinary tract defects (BRMUTD; 613735), Negishi et al. (2015) identified a de novo heterozygous 1-bp deletion (c.1094delC, NM_001134673.3) in the NFIA gene, resulting in a frameshift and premature termination (Pro365HisfsTer32). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 138), 1000 Genomes Project, or Exome Sequencing Project databases or in 154 Japanese controls. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIA, 109-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV004561491
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 members of a family with brain malformations with or without urinary tract defects (BRMUTD; 613735), Nyboe et al. (2015) identified heterozygosity for a 109-kb intragenic deletion (chr1.61,497,698-61,607,171, GRCh37) that affected exons 1 and 2 of the NFIA gene. The deletion in the proband was found by array CGH analysis and confirmed in her father and her 2 sibs by quantitative PCR. Only the father and 1 sib had urinary tract defects. No functional studies were performed. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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</div>
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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">
|
|
Campbell, C. G. N., Wang, H., Hunter, G. W.
|
|
<strong>Interstitial microdeletion of chromosome 1p in two siblings.</strong>
|
|
Am. J. Med. Genet. 111: 289-294, 2002.
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|
|
[PubMed: 12210325]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.10595]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
das Neves, L., Duchala, C. S., Godinho, F., Haxhiu, M. A., Colmenares, C., Macklin, W. B., Campbell, C. E., Butz, K. G., Gronostajski, R. M.
|
|
<strong>Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 11946-11951, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 98: 4276 only, 2001.
|
|
|
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|
|
[PubMed: 10518556]
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|
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[Full Text: https://doi.org/10.1073/pnas.96.21.11946]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deneen, B., Ho, R., Lukaszewicz, A., Hochstim, C. J., Gronostajski, R. M., Anderson, D. J.
|
|
<strong>The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord.</strong>
|
|
Neuron 52: 953-968, 2006.
|
|
|
|
|
|
[PubMed: 17178400]
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|
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[Full Text: https://doi.org/10.1016/j.neuron.2006.11.019]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E.
|
|
<strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong>
|
|
Gene 304: 171-181, 2003.
|
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|
|
[PubMed: 12568726]
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|
|
[Full Text: https://doi.org/10.1016/s0378-1119(02)01204-0]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others.
|
|
<strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong>
|
|
PLoS Genet. 3: e80, 2007. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 17530927]
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|
|
[Full Text: https://doi.org/10.1371/journal.pgen.0030080]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 65-73, 2000.
|
|
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|
|
|
[PubMed: 10718198]
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|
|
[Full Text: https://doi.org/10.1093/dnares/7.1.65]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S.
|
|
<strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong>
|
|
Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 27081522]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/hgv.2015.7]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B.
|
|
<strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong>
|
|
Clin. Dysmorph. 24: 109-112, 2015.
|
|
|
|
|
|
[PubMed: 25714559]
|
|
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|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000079]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qian, F., Kruse, U., Lichter, P., Sippel, A. E.
|
|
<strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong>
|
|
Genomics 28: 66-73, 1995.
|
|
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|
|
[PubMed: 7590749]
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[Full Text: https://doi.org/10.1006/geno.1995.1107]
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Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H.
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<strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong>
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Rosa, A., Ballarino, M., Sorrentino, A., Sthandier, O., De Angelis, F. G., Marchioni, M., Masella, B., Guarini, A., Fatica, A., Peschle, C., Bozzoni, I.
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<strong>The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.</strong>
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Proc. Nat. Acad. Sci. 104: 19849-19854, 2007.
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[PubMed: 18056638]
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[Full Text: https://doi.org/10.1073/pnas.0706963104]
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Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B.
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<strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong>
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[PubMed: 15368480]
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[Full Text: https://doi.org/10.1002/ajmg.a.30311]
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Michael Muriello - updated : 10/30/2017<br>Patricia A. Hartz - updated : 07/12/2017<br>Cassandra L. Kniffin - updated : 04/13/2017<br>Patricia A. Hartz - updated : 2/4/2011<br>Paul J. Converse - updated : 2/7/2008<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Patricia A. Hartz - updated : 4/1/2003
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Victor A. McKusick : 8/17/1995
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