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- *601724 - NEUROGENIC DIFFERENTIATION 1; NEUROD1
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- OMIM
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<p>
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<span class="h4">*601724</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601724">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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 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=ENSG00000162992;t=ENST00000295108" 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=4760" 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=601724" 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 class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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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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<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=ENSG00000162992;t=ENST00000295108" 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_002500,NR_146175,NR_146176" 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_002500" 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=601724" 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=03428&isoform_id=03428_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/NEUROD1" 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/1022786,1245455,1732369,1841344,2865619,4115808,4587072,6484294,14290549,54696328,62988880,119631388,189054028,306411101,311033428,326205266,326205268,326205270,326205272,957949894,957949897,1812100109,2507143414" 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/Q13562" 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 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=4760" 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=ENSG00000162992;t=ENST00000295108" 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=NEUROD1" 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=NEUROD1" 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+4760" 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/NEUROD1" 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:4760" 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/4760" 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=chr2&hgg_gene=ENST00000295108.4&hgg_start=181668295&hgg_end=181680517&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7762" 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=601724[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=601724[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000162992" 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=NEUROD1" 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=NEUROD1" 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=NEUROD1" 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=NEUROD1&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/PA31564" 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:7762" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1339708" 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/NEUROD1#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:1339708" 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/4760/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=4760" 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=WBGene00000561;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-990415-172" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4760" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=NEUROD1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 44054006, 609573005<br />
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<strong>ICD10CM:</strong> E11<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601724
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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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NEUROGENIC DIFFERENTIATION 1; NEUROD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
NEUROD<br />
|
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BETA-CELL E-BOX TRANSACTIVATOR 2; BETA2
|
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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=NEUROD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NEUROD1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/834?start=-3&limit=10&highlight=834">2q31.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:181668295-181680517&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'})">2:181,668,295-181,680,517</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=125853,606394" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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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>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/834?start=-3&limit=10&highlight=834">
|
|
2q31.3
|
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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">
|
|
{Type 2 diabetes mellitus, susceptibility to}
|
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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/125853"> 125853 </a>
|
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|
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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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Maturity-onset diabetes of the young 6
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/606394"> 606394 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601724" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601724" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<p>Basic helix-loop-helix (bHLH) proteins are transcription factors involved in determining cell type during development. <a href="#2" class="mim-tip-reference" title="Lee, J. E., Hollenberg, S. M., Snider, L., Turner, D. L., Lipnick, N., Weintraub, H. <strong>Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein.</strong> Science 268: 836-844, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7754368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7754368</a>] [<a href="https://doi.org/10.1126/science.7754368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7754368">Lee et al. (1995)</a> described a bHLH protein, termed NeuroD (for 'neurogenic differentiation') by them, that functions during neurogenesis. They cloned genes encoding the mouse and Xenopus NeuroD homologs and showed that they are expressed transiently in a subset of neurons in the central and peripheral nervous systems at the time of their terminal differentiation. They also found that ectopic expression of NeuroD in Xenopus embryos causes conversion of epithelial cells into neurons. See also NEUROD2 (<a href="/entry/601725">601725</a>) and NEUROD3 (<a href="/entry/601726">601726</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7754368" 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="Tamimi, R., Steingrimsson, E., Copeland, N. G., Dyer-Montgomery, K., Lee, J. E., Hernandez, R., Jenkins, N. A., Tapscott, S. J. <strong>The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2.</strong> Genomics 34: 418-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786144</a>] [<a href="https://doi.org/10.1006/geno.1996.0306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786144">Tamimi et al. (1996)</a> cloned human NEUROD from a fetal brain cDNA library using the mouse gene as a probe. The predicted 357-amino acid polypeptide shares 97% identity with the mouse gene (100% identity in the bHLH region). They found that the NeuroD gene is identical to the hamster beta-2 gene that was cloned as a regulator of insulin (<a href="/entry/176730">176730</a>) gene transcription by <a href="#7" class="mim-tip-reference" title="Naya, F. J., Stellrecht, C. M., Tsai, M. J. <strong>Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor.</strong> Genes Dev. 9: 1009-1019, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774807</a>] [<a href="https://doi.org/10.1101/gad.9.8.1009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7774807">Naya et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7774807+8786144" 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="#7" class="mim-tip-reference" title="Naya, F. J., Stellrecht, C. M., Tsai, M. J. <strong>Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor.</strong> Genes Dev. 9: 1009-1019, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774807</a>] [<a href="https://doi.org/10.1101/gad.9.8.1009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7774807">Naya et al. (1995)</a> demonstrated that NEUROD1, following its heterodimerization with the ubiquitous helix-loop-helix HLH protein E47 (see <a href="/entry/147141">147141</a>), regulates insulin gene expression by binding to a critical E-box motif on the insulin promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774807" 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="#13" class="mim-tip-reference" title="Yan, R.-T., Wang, S.-Z. <strong>Requirement of neuroD for photoreceptor formation in the chick retina.</strong> Invest. Ophthal. Vis. Sci. 45: 48-58, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14691153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14691153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14691153[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/10.1167/iovs.03-0774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14691153">Yan and Wang (2004)</a> used engrailed-mediated active repression, antisense oligonucleotides, and small interfering RNA (siRNA) to attenuate neuroD expression and function in embryonic chick retinas. Chick embryos infected with retroviruses expressing an active repression construct exhibited severe photoreceptor deficits. The outer nuclear layer of the retina was no longer a contiguous structure, but became fragmented with regions that contained few or no photoreceptor cells. Photoreceptor deficiency was evident even before the retina became laminated, suggesting that active repression of neuroD may have affected photoreceptor genesis. No deficiency was observed in other types of retinal cells. Anti-neuroD antibody specifically labeled the nuclei of the outer nuclear layer. The data suggested a specific and essential role for neuroD in photoreceptor formation in the chick retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14691153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Pang, Z. P., Yang, N., Vierbuchen, T., Ostermeier, A., Fuentes, D. R., Yang, T. Q., Citri, A., Sebastiano, V., Marro, S., Sudhof, T. C., Wernig, M. <strong>Induction of human neuronal cells by defined transcription factors.</strong> Nature 476: 220-223, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21617644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21617644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21617644[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/nature10202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21617644">Pang et al. (2011)</a> showed that POU3F2 (<a href="/entry/600494">600494</a>), ASCL1 (<a href="/entry/100790">100790</a>), and MYT1L (<a href="/entry/613084">613084</a>) can generate functional neurons from human pluripotent stem cells as early as 6 days after transgene activation. When combined with NEUROD1, these factors could also convert fetal and postnatal human fibroblasts into induced neuronal cells showing typical neuronal morphologies and expressing multiple neuronal markers, even after downregulation of the exogenous transcription factors. Importantly, the vast majority of human induced neuronal cells were able to generate action potentials and many matured to receive synaptic contacts when cocultured with primary mouse cortical neurons. <a href="#9" class="mim-tip-reference" title="Pang, Z. P., Yang, N., Vierbuchen, T., Ostermeier, A., Fuentes, D. R., Yang, T. Q., Citri, A., Sebastiano, V., Marro, S., Sudhof, T. C., Wernig, M. <strong>Induction of human neuronal cells by defined transcription factors.</strong> Nature 476: 220-223, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21617644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21617644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21617644[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/nature10202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21617644">Pang et al. (2011)</a> concluded that nonneuronal human somatic cells, as well as pluripotent stem cells, can be converted directly into neurons by lineage-determining transcription factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21617644" 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 interspecific backcross, <a href="#11" class="mim-tip-reference" title="Tamimi, R., Steingrimsson, E., Copeland, N. G., Dyer-Montgomery, K., Lee, J. E., Hernandez, R., Jenkins, N. A., Tapscott, S. J. <strong>The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2.</strong> Genomics 34: 418-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786144</a>] [<a href="https://doi.org/10.1006/geno.1996.0306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786144">Tamimi et al. (1996)</a> mapped the mouse Neurod gene to chromosome 2. By fluorescence in situ hybridization they mapped the human NEUROD gene to chromosome 2q32. The authors noted that the type I insulin-dependent diabetes locus IDDM7 (<a href="/entry/600321">600321</a>) maps to 2q31-q33 and that NEUROD is a potential candidate gene for that disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786144" 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="Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S. <strong>Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.</strong> Nature Genet. 23: 323-328, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545951</a>] [<a href="https://doi.org/10.1038/15500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545951">Malecki et al. (1999)</a> described 2 heterozygous mutations in NEUROD1 that were associated with the development of type 2 diabetes (T2D; <a href="/entry/125853">125853</a>). One is the missense mutation arg111-to-leu (<a href="#0001">601724.0001</a>), which disrupts the DNA-binding domain and abolishes the E-box binding activity of NEUROD1. The second mutation, 206+C (<a href="#0002">601724.0002</a>) gives rise to a truncated polypeptide lacking the C-terminal transactivation domain, a region that associates with the coactivators CBP (<a href="/entry/600140">600140</a>) and p300 (<a href="/entry/602700">602700</a>). The clinical profile of patients with the truncated NEUROD1 polypeptide was more severe and more suggestive of a MODY (see <a href="/entry/606391">606391</a>), whereas that of patients with the arg111-to-leu mutation was more typical of type 2 diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Polonsky, K. S. <strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong> New Eng. J. Med. 345: 971-980, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11575290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11575290</a>] [<a href="https://doi.org/10.1056/NEJMra002168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11575290">Fajans et al. (2001)</a> referred to the diabetes due to mutation in the NEUROD1 gene as maturity-onset diabetes of the young type 6 (MODY6; <a href="/entry/606394">606394</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11575290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between retinitis pigmentosa and variation in the NEUROD1 gene, see <a href="#0003">601724.0003</a>.</p>
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<p><a href="#6" class="mim-tip-reference" title="Naya, F. J., Huang, H.-P., Qiu, Y., Mutoh, H., DeMayo, F. J., Leiter, A. B., Tsai, M.-J. <strong>Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neurod-deficient mice.</strong> Genes Dev. 11: 2323-2334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9308961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9308961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9308961[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.11.18.2323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9308961">Naya et al. (1997)</a> demonstrated that mice homozygous for a targeted disruption of Neurod have abnormal pancreatic islet morphogenesis and overt diabetes due to inadequate expression of the insulin gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9308961" 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>NeuroD is a homolog of the Drosophila 'atonal' gene that is widely expressed during development in the mammalian brain and pancreas. Although studies in Xenopus had suggested that NeuroD is involved in cellular differentiation, its function in the mammalian nervous system had not been determined. <a href="#4" class="mim-tip-reference" title="Liu, M., Pleasure, S. J., Collins, A. E., Noebels, J. L., Naya, F. J., Tsai, M.-J., Lowenstein, D. H. <strong>Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy.</strong> Proc. Nat. Acad. Sci. 97: 865-870, 2000. Note: Erratum: Proc. Nat. Acad. Sci. 97: 5679 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10639171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10639171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10639171[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.97.2.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10639171">Liu et al. (2000)</a> showed that mice homozygous for a deletion of the NeuroD gene failed to develop a granule cell layer within the dentate gyrus, one of the principal structures of the hippocampal formation. Using immunocytochemical markers in the deficient mice, the authors showed that the early cell populations in the dentate gyrus were present and appeared normally organized. The migration of dentate precursor cells in newly born granule cells from the neuroepithelium to the dentate gyrus remained intact. However, there was a dramatic defect in the proliferation of precursor cells once they reached the dentate, and a significant delay in the differentiation of granule cells. This led to malformation of the dentate granule cell layer and excess cell death. The homozygous-null mice exhibited spontaneous limbic seizures associated with electrophysiologic evidence of seizure activity in the hippocampus and cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10639171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Liu, M., Pereira, F. A., Price, S. D., Chu, M., Shope, C., Himes, D., Eatock, R. A., Brownell, W. E., Lysakowski, A., Tsai, M.-J. <strong>Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems.</strong> Genes Dev. 14: 2839-2854, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090132[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.840500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090132">Liu et al. (2000)</a> found that Neurod1-null mice exhibited behavioral abnormalities suggestive of an inner ear defect, including lack of responsiveness to sound, hyperactivity, head tilting, and circling. These defects were due to severe reduction of sensory neurons in the cochlear-vestibular ganglion (CVG) caused by delayed or defective delamination of CVG neuroblast precursors from the otic vesicle epithelium and enhanced apoptosis in the otic epithelium and in neurons that delaminate to form the CVG. Neurod1-null mice also showed defects in differentiation and patterning of the cochlear duct and sensory epithelium and loss of the dorsal cochlear nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11090132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893649 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893649;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104893649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104893649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family (family A) segregating type 2 diabetes mellitus (T2D; <a href="/entry/125853">125853</a>), <a href="#5" class="mim-tip-reference" title="Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S. <strong>Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.</strong> Nature Genet. 23: 323-328, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545951</a>] [<a href="https://doi.org/10.1038/15500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545951">Malecki et al. (1999)</a> identified a G-to-T transversion in the NEUROD1 gene resulting in an arg-to-leu substitution at codon 111 (R111L). The mutation was located in the proximal basic portion of the basic helix-loop-helix (bHLH) domain, which is responsible for DNA binding. Arg111 is an invariant residue among members of the bHLH family. Of 6 carriers of this mutation, 4 had previously been diagnosed with diabetes and 2 had impaired glucose intolerance diagnosed at the time of examination. The average age of these 4 carriers at the time of diagnosis was 40 (range 30 to 59 years). One noncarrier at age 52 had diabetes treated by oral medication, and another noncarrier at age 65 had impaired glucose tolerance. These 2 individuals were deemed most likely to be phenocopies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906384 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906384;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906384?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008304 OR RCV002228018 OR RCV003390656 OR RCV003555971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008304, RCV002228018, RCV003390656, RCV003555971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008304...</a>
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<p>In a family (family B) segregating maturity-onset diabetes of the young (MODY6; <a href="/entry/606394">606394</a>), <a href="#5" class="mim-tip-reference" title="Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S. <strong>Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.</strong> Nature Genet. 23: 323-328, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545951</a>] [<a href="https://doi.org/10.1038/15500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545951">Malecki et al. (1999)</a> identified insertion of a cytosine residue in a polyC tract in codon 206 in exon 2 (designated 206+C) of the NEUROD1 gene, resulting in a frameshift and synthesis of a nonsense peptide from amino acid 205 to 242, followed by a premature stop codon. The mutant protein thus lacked the C-terminal third of the protein, which harbors the transactivation domain and interacts with the cellular coactivator p300. The mutation was identified in 7 previously diagnosed diabetics and in 2 nondiabetic individuals who were apparently nonpenetrants. The average age of the 7 carriers at the time of diagnosis was 31, with a range of 17 to 56 years. At the time of examination the diabetes was treated with diet, oral agents, or insulin. All patients had low serum insulin levels, and 2 whose diabetes was treated with insulin had undetectable serum C peptide. The more severe clinical profile was thought to resemble a MODY phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786205158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205158;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs786205158?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786205158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs786205158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to retinitis pigmentosa (RP; see <a href="/entry/268000">268000</a>) has not been confirmed.</p><p>In a brother and sister with late-onset RP, who were born to first-cousin Han Chinese parents and were negative for mutation in 186 known retinal disease-causing genes, <a href="#12" class="mim-tip-reference" title="Wang, F., Li, H., Xu, M., Li, H., Zhao, L., Yang, L., Zaneveld, J. E., Wang, K., Li, Y., Sui, R., Chen, R. <strong>A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 56: 150-155, 2015."None>Wang et al. (2015)</a> performed whole-exome capture and identified homozygosity for a c.724G-A transition in the NEUROD1 gene, resulting in a val242-to-ile (V242I) substitution at a highly conserved residue. Sanger sequencing confirmed the mutation, which was present in heterozygosity in their unaffected father and 2 unaffected sibs. The 33-year-old male proband reported 15 years of night blindness and 8 years of progressively decreasing visual acuity. Fundus examination showed bone-spicule pigmentation in the midperiphery with attenuated retinal vessels, and optical coherence tomography showed increased retinal thickness in the macular region, with discontinuous inner/outer segment junction signal and loss of the foveal pit. Visual field testing showed symmetrical loss of upper and temporal visual fields, with conserved central vision in both eyes. Electroretinography was consistent with widespread rod and cone degeneration. The proband's 40-year-old sister, who had had night blindness since childhood, was found to have severe subcapsular cataracts bilaterally on slit-lamp examination. She also exhibited diffuse retinal pigment epithelial and choroidal atrophy, with characteristic bone-spicule pigmentation in the midperiphery. A vitreous membrane was observed in the right eye. Neither patient had systemic abnormalities; specifically, they both had normal HbA1c levels, and neither had any neurologic symptoms. No functional analysis of the variant was reported, but <a href="#12" class="mim-tip-reference" title="Wang, F., Li, H., Xu, M., Li, H., Zhao, L., Yang, L., Zaneveld, J. E., Wang, K., Li, Y., Sui, R., Chen, R. <strong>A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 56: 150-155, 2015."None>Wang et al. (2015)</a> noted that the RP phenotype was consistent with previously reported knockout mouse models showing that Neurod1 is required for survival of adult photoreceptor cells and that loss of Neurod1 causes progressive retinal degeneration (<a href="#10" class="mim-tip-reference" title="Pennesi, M. E., Cho, J.-H., Yang, Z., Wu, S. H., Zhang, J., Wu, S. M., Tsai, M.-J. <strong>BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration.</strong> J. Neurosci. 23: 453-461, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12533605[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/10.1523/JNEUROSCI.23-02-00453.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12533605">Pennesi et al., 2003</a>; <a href="#8" class="mim-tip-reference" title="Ochocinska, M. J., Munoz, E. M., Veleri, S., Weller, J. L., Coon, S. L., Pozdeyev, N., Iuvone, P. M., Goebbels, S., Furukawa, T., Klein, D. C. <strong>NeuroD1 is required for survival of photoreceptors but not pinealocytes: results from targeted gene deletion studies.</strong> J. Neurochem. 123: 44-59, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22784109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22784109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22784109[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/10.1111/j.1471-4159.2012.07870.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22784109">Ochocinska et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12533605+22784109" 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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New Eng. J. Med. 345: 971-980, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11575290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11575290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11575290" 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/10.1056/NEJMra002168" target="_blank">Full Text</a>]
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Lee, J. E., Hollenberg, S. M., Snider, L., Turner, D. L., Lipnick, N., Weintraub, H.
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<strong>Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein.</strong>
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Science 268: 836-844, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7754368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7754368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7754368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.7754368" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Liu2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, M., Pereira, F. A., Price, S. D., Chu, M., Shope, C., Himes, D., Eatock, R. A., Brownell, W. E., Lysakowski, A., Tsai, M.-J.
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<strong>Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090132[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=11090132" 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/10.1101/gad.840500" target="_blank">Full Text</a>]
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<a id="Liu2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Liu, M., Pleasure, S. J., Collins, A. E., Noebels, J. L., Naya, F. J., Tsai, M.-J., Lowenstein, D. H.
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<strong>Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy.</strong>
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Proc. Nat. Acad. Sci. 97: 865-870, 2000. Note: Erratum: Proc. Nat. Acad. Sci. 97: 5679 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10639171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10639171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10639171[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=10639171" 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.97.2.865" target="_blank">Full Text</a>]
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<a id="Malecki1999" class="mim-anchor"></a>
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Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S.
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<strong>Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545951" 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/10.1038/15500" target="_blank">Full Text</a>]
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<a id="Naya1997" class="mim-anchor"></a>
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Naya, F. J., Huang, H.-P., Qiu, Y., Mutoh, H., DeMayo, F. J., Leiter, A. B., Tsai, M.-J.
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<strong>Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neurod-deficient mice.</strong>
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Genes Dev. 11: 2323-2334, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9308961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9308961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9308961[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=9308961" 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/10.1101/gad.11.18.2323" target="_blank">Full Text</a>]
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<a id="Naya1995" class="mim-anchor"></a>
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Naya, F. J., Stellrecht, C. M., Tsai, M. J.
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<strong>Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774807" 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/10.1101/gad.9.8.1009" target="_blank">Full Text</a>]
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Ochocinska, M. J., Munoz, E. M., Veleri, S., Weller, J. L., Coon, S. L., Pozdeyev, N., Iuvone, P. M., Goebbels, S., Furukawa, T., Klein, D. C.
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<strong>NeuroD1 is required for survival of photoreceptors but not pinealocytes: results from targeted gene deletion studies.</strong>
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J. Neurochem. 123: 44-59, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22784109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22784109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22784109[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=22784109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1471-4159.2012.07870.x" target="_blank">Full Text</a>]
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<a id="Pang2011" class="mim-anchor"></a>
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Pang, Z. P., Yang, N., Vierbuchen, T., Ostermeier, A., Fuentes, D. R., Yang, T. Q., Citri, A., Sebastiano, V., Marro, S., Sudhof, T. C., Wernig, M.
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<strong>Induction of human neuronal cells by defined transcription factors.</strong>
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Nature 476: 220-223, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21617644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21617644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21617644[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=21617644" 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/nature10202" target="_blank">Full Text</a>]
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<a id="Pennesi2003" class="mim-anchor"></a>
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Pennesi, M. E., Cho, J.-H., Yang, Z., Wu, S. H., Zhang, J., Wu, S. M., Tsai, M.-J.
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<strong>BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration.</strong>
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J. Neurosci. 23: 453-461, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12533605[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=12533605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1523/JNEUROSCI.23-02-00453.2003" target="_blank">Full Text</a>]
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<a id="Tamimi1996" class="mim-anchor"></a>
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Tamimi, R., Steingrimsson, E., Copeland, N. G., Dyer-Montgomery, K., Lee, J. E., Hernandez, R., Jenkins, N. A., Tapscott, S. J.
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<strong>The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2.</strong>
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Genomics 34: 418-421, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786144" 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.1996.0306" target="_blank">Full Text</a>]
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Wang, F., Li, H., Xu, M., Li, H., Zhao, L., Yang, L., Zaneveld, J. E., Wang, K., Li, Y., Sui, R., Chen, R.
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<strong>A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.</strong>
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Invest. Ophthal. Vis. Sci. 56: 150-155, 2015.
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Yan, R.-T., Wang, S.-Z.
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<strong>Requirement of neuroD for photoreceptor formation in the chick retina.</strong>
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Invest. Ophthal. Vis. Sci. 45: 48-58, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14691153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14691153</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14691153[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=14691153" 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/10.1167/iovs.03-0774" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 4/29/2015
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Ada Hamosh - updated : 8/24/2011<br>Patricia A. Hartz - updated : 5/28/2008<br>Jane Kelly - updated : 6/4/2004<br>Ada Hamosh - updated : 10/18/2001<br>Victor A. McKusick - updated : 10/8/2001<br>Victor A. McKusick - updated : 2/9/2000<br>Ada Hamosh - updated : 11/1/1999
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Mark H. Paalman : 3/26/1997
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carol : 07/18/2024
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carol : 10/26/2015<br>carol : 4/30/2015<br>mcolton : 4/29/2015<br>terry : 9/14/2012<br>alopez : 8/25/2011<br>alopez : 8/25/2011<br>terry : 8/24/2011<br>mgross : 5/30/2008<br>terry : 5/28/2008<br>terry : 4/5/2005<br>alopez : 6/4/2004<br>alopez : 6/4/2004<br>carol : 12/9/2003<br>carol : 10/18/2001<br>carol : 10/8/2001<br>mgross : 3/2/2000<br>terry : 2/9/2000<br>terry : 12/1/1999<br>alopez : 11/4/1999<br>alopez : 11/4/1999<br>terry : 11/1/1999<br>mark : 4/9/1997<br>mark : 3/31/1997<br>terry : 3/27/1997<br>mark : 3/26/1997
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NEUROGENIC DIFFERENTIATION 1; NEUROD1
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<h4>
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<span class="mim-font">
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NEUROD<br />
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BETA-CELL E-BOX TRANSACTIVATOR 2; BETA2
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</span>
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</h4>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NEUROD1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 44054006, 609573005;
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<strong>ICD10CM:</strong> E11;
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</span>
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</p>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:181,668,295-181,680,517 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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2q31.3
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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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{Type 2 diabetes mellitus, susceptibility to}
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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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125853
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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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<tr>
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<td>
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<span class="mim-font">
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Maturity-onset diabetes of the young 6
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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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606394
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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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</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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<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>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>Basic helix-loop-helix (bHLH) proteins are transcription factors involved in determining cell type during development. Lee et al. (1995) described a bHLH protein, termed NeuroD (for 'neurogenic differentiation') by them, that functions during neurogenesis. They cloned genes encoding the mouse and Xenopus NeuroD homologs and showed that they are expressed transiently in a subset of neurons in the central and peripheral nervous systems at the time of their terminal differentiation. They also found that ectopic expression of NeuroD in Xenopus embryos causes conversion of epithelial cells into neurons. See also NEUROD2 (601725) and NEUROD3 (601726). </p><p>Tamimi et al. (1996) cloned human NEUROD from a fetal brain cDNA library using the mouse gene as a probe. The predicted 357-amino acid polypeptide shares 97% identity with the mouse gene (100% identity in the bHLH region). They found that the NeuroD gene is identical to the hamster beta-2 gene that was cloned as a regulator of insulin (176730) gene transcription by Naya 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>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Naya et al. (1995) demonstrated that NEUROD1, following its heterodimerization with the ubiquitous helix-loop-helix HLH protein E47 (see 147141), regulates insulin gene expression by binding to a critical E-box motif on the insulin promoter. </p><p>Yan and Wang (2004) used engrailed-mediated active repression, antisense oligonucleotides, and small interfering RNA (siRNA) to attenuate neuroD expression and function in embryonic chick retinas. Chick embryos infected with retroviruses expressing an active repression construct exhibited severe photoreceptor deficits. The outer nuclear layer of the retina was no longer a contiguous structure, but became fragmented with regions that contained few or no photoreceptor cells. Photoreceptor deficiency was evident even before the retina became laminated, suggesting that active repression of neuroD may have affected photoreceptor genesis. No deficiency was observed in other types of retinal cells. Anti-neuroD antibody specifically labeled the nuclei of the outer nuclear layer. The data suggested a specific and essential role for neuroD in photoreceptor formation in the chick retina. </p><p>Pang et al. (2011) showed that POU3F2 (600494), ASCL1 (100790), and MYT1L (613084) can generate functional neurons from human pluripotent stem cells as early as 6 days after transgene activation. When combined with NEUROD1, these factors could also convert fetal and postnatal human fibroblasts into induced neuronal cells showing typical neuronal morphologies and expressing multiple neuronal markers, even after downregulation of the exogenous transcription factors. Importantly, the vast majority of human induced neuronal cells were able to generate action potentials and many matured to receive synaptic contacts when cocultured with primary mouse cortical neurons. Pang et al. (2011) concluded that nonneuronal human somatic cells, as well as pluripotent stem cells, can be converted directly into neurons by lineage-determining transcription factors. </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 interspecific backcross, Tamimi et al. (1996) mapped the mouse Neurod gene to chromosome 2. By fluorescence in situ hybridization they mapped the human NEUROD gene to chromosome 2q32. The authors noted that the type I insulin-dependent diabetes locus IDDM7 (600321) maps to 2q31-q33 and that NEUROD is a potential candidate gene for that disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Malecki et al. (1999) described 2 heterozygous mutations in NEUROD1 that were associated with the development of type 2 diabetes (T2D; 125853). One is the missense mutation arg111-to-leu (601724.0001), which disrupts the DNA-binding domain and abolishes the E-box binding activity of NEUROD1. The second mutation, 206+C (601724.0002) gives rise to a truncated polypeptide lacking the C-terminal transactivation domain, a region that associates with the coactivators CBP (600140) and p300 (602700). The clinical profile of patients with the truncated NEUROD1 polypeptide was more severe and more suggestive of a MODY (see 606391), whereas that of patients with the arg111-to-leu mutation was more typical of type 2 diabetes mellitus. </p><p>Fajans et al. (2001) referred to the diabetes due to mutation in the NEUROD1 gene as maturity-onset diabetes of the young type 6 (MODY6; 606394). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between retinitis pigmentosa and variation in the NEUROD1 gene, see 601724.0003.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Naya et al. (1997) demonstrated that mice homozygous for a targeted disruption of Neurod have abnormal pancreatic islet morphogenesis and overt diabetes due to inadequate expression of the insulin gene. </p><p>NeuroD is a homolog of the Drosophila 'atonal' gene that is widely expressed during development in the mammalian brain and pancreas. Although studies in Xenopus had suggested that NeuroD is involved in cellular differentiation, its function in the mammalian nervous system had not been determined. Liu et al. (2000) showed that mice homozygous for a deletion of the NeuroD gene failed to develop a granule cell layer within the dentate gyrus, one of the principal structures of the hippocampal formation. Using immunocytochemical markers in the deficient mice, the authors showed that the early cell populations in the dentate gyrus were present and appeared normally organized. The migration of dentate precursor cells in newly born granule cells from the neuroepithelium to the dentate gyrus remained intact. However, there was a dramatic defect in the proliferation of precursor cells once they reached the dentate, and a significant delay in the differentiation of granule cells. This led to malformation of the dentate granule cell layer and excess cell death. The homozygous-null mice exhibited spontaneous limbic seizures associated with electrophysiologic evidence of seizure activity in the hippocampus and cortex. </p><p>Liu et al. (2000) found that Neurod1-null mice exhibited behavioral abnormalities suggestive of an inner ear defect, including lack of responsiveness to sound, hyperactivity, head tilting, and circling. These defects were due to severe reduction of sensory neurons in the cochlear-vestibular ganglion (CVG) caused by delayed or defective delamination of CVG neuroblast precursors from the otic vesicle epithelium and enhanced apoptosis in the otic epithelium and in neurons that delaminate to form the CVG. Neurod1-null mice also showed defects in differentiation and patterning of the cochlear duct and sensory epithelium and loss of the dorsal cochlear nucleus. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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<strong>.0001 TYPE 2 DIABETES MELLITUS</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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NEUROD1, ARG111LEU
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<br />
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SNP: rs104893649,
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ClinVar: RCV000008303
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family (family A) segregating type 2 diabetes mellitus (T2D; 125853), Malecki et al. (1999) identified a G-to-T transversion in the NEUROD1 gene resulting in an arg-to-leu substitution at codon 111 (R111L). The mutation was located in the proximal basic portion of the basic helix-loop-helix (bHLH) domain, which is responsible for DNA binding. Arg111 is an invariant residue among members of the bHLH family. Of 6 carriers of this mutation, 4 had previously been diagnosed with diabetes and 2 had impaired glucose intolerance diagnosed at the time of examination. The average age of these 4 carriers at the time of diagnosis was 40 (range 30 to 59 years). One noncarrier at age 52 had diabetes treated by oral medication, and another noncarrier at age 65 had impaired glucose tolerance. These 2 individuals were deemed most likely to be phenocopies. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEUROD1, 1-BP INS, 206C
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<br />
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SNP: rs387906384,
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gnomAD: rs387906384,
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ClinVar: RCV000008304, RCV002228018, RCV003390656, RCV003555971
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family (family B) segregating maturity-onset diabetes of the young (MODY6; 606394), Malecki et al. (1999) identified insertion of a cytosine residue in a polyC tract in codon 206 in exon 2 (designated 206+C) of the NEUROD1 gene, resulting in a frameshift and synthesis of a nonsense peptide from amino acid 205 to 242, followed by a premature stop codon. The mutant protein thus lacked the C-terminal third of the protein, which harbors the transactivation domain and interacts with the cellular coactivator p300. The mutation was identified in 7 previously diagnosed diabetics and in 2 nondiabetic individuals who were apparently nonpenetrants. The average age of the 7 carriers at the time of diagnosis was 31, with a range of 17 to 56 years. At the time of examination the diabetes was treated with diet, oral agents, or insulin. All patients had low serum insulin levels, and 2 whose diabetes was treated with insulin had undetectable serum C peptide. The more severe clinical profile was thought to resemble a MODY phenotype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEUROD1, VAL242ILE
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<br />
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SNP: rs786205158,
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gnomAD: rs786205158,
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ClinVar: RCV000170343
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to retinitis pigmentosa (RP; see 268000) has not been confirmed.</p><p>In a brother and sister with late-onset RP, who were born to first-cousin Han Chinese parents and were negative for mutation in 186 known retinal disease-causing genes, Wang et al. (2015) performed whole-exome capture and identified homozygosity for a c.724G-A transition in the NEUROD1 gene, resulting in a val242-to-ile (V242I) substitution at a highly conserved residue. Sanger sequencing confirmed the mutation, which was present in heterozygosity in their unaffected father and 2 unaffected sibs. The 33-year-old male proband reported 15 years of night blindness and 8 years of progressively decreasing visual acuity. Fundus examination showed bone-spicule pigmentation in the midperiphery with attenuated retinal vessels, and optical coherence tomography showed increased retinal thickness in the macular region, with discontinuous inner/outer segment junction signal and loss of the foveal pit. Visual field testing showed symmetrical loss of upper and temporal visual fields, with conserved central vision in both eyes. Electroretinography was consistent with widespread rod and cone degeneration. The proband's 40-year-old sister, who had had night blindness since childhood, was found to have severe subcapsular cataracts bilaterally on slit-lamp examination. She also exhibited diffuse retinal pigment epithelial and choroidal atrophy, with characteristic bone-spicule pigmentation in the midperiphery. A vitreous membrane was observed in the right eye. Neither patient had systemic abnormalities; specifically, they both had normal HbA1c levels, and neither had any neurologic symptoms. No functional analysis of the variant was reported, but Wang et al. (2015) noted that the RP phenotype was consistent with previously reported knockout mouse models showing that Neurod1 is required for survival of adult photoreceptor cells and that loss of Neurod1 causes progressive retinal degeneration (Pennesi et al., 2003; Ochocinska et al., 2012). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Fajans, S. S., Bell, G. I., Polonsky, K. S.
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<strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong>
|
|
New Eng. J. Med. 345: 971-980, 2001.
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[PubMed: 11575290]
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[Full Text: https://doi.org/10.1056/NEJMra002168]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lee, J. E., Hollenberg, S. M., Snider, L., Turner, D. L., Lipnick, N., Weintraub, H.
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<strong>Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein.</strong>
|
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Science 268: 836-844, 1995.
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[PubMed: 7754368]
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[Full Text: https://doi.org/10.1126/science.7754368]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Liu, M., Pereira, F. A., Price, S. D., Chu, M., Shope, C., Himes, D., Eatock, R. A., Brownell, W. E., Lysakowski, A., Tsai, M.-J.
|
|
<strong>Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems.</strong>
|
|
Genes Dev. 14: 2839-2854, 2000.
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[PubMed: 11090132]
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[Full Text: https://doi.org/10.1101/gad.840500]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Liu, M., Pleasure, S. J., Collins, A. E., Noebels, J. L., Naya, F. J., Tsai, M.-J., Lowenstein, D. H.
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<strong>Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 865-870, 2000. Note: Erratum: Proc. Nat. Acad. Sci. 97: 5679 only, 2000.
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[PubMed: 10639171]
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Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S.
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Naya, F. J., Stellrecht, C. M., Tsai, M. J.
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<strong>Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor.</strong>
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Ochocinska, M. J., Munoz, E. M., Veleri, S., Weller, J. L., Coon, S. L., Pozdeyev, N., Iuvone, P. M., Goebbels, S., Furukawa, T., Klein, D. C.
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Pang, Z. P., Yang, N., Vierbuchen, T., Ostermeier, A., Fuentes, D. R., Yang, T. Q., Citri, A., Sebastiano, V., Marro, S., Sudhof, T. C., Wernig, M.
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<strong>The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2.</strong>
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Wang, F., Li, H., Xu, M., Li, H., Zhao, L., Yang, L., Zaneveld, J. E., Wang, K., Li, Y., Sui, R., Chen, R.
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