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Entry
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- *607968 - PARATHYROID HORMONE-RESPONSIVE B1 GENE
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- OMIM
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<p>
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<span class="h4">*607968</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607968">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000122507;t=ENST00000242067" 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=27241" 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=607968" 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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000122507;t=ENST00000242067" 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_001033604,NM_001033605,NM_001348036,NM_001348037,NM_001348038,NM_001348039,NM_001348040,NM_001348041,NM_001348042,NM_001348043,NM_001348044,NM_001348045,NM_001348046,NM_001362679,NM_014451,NM_198428,NR_145411,NR_145412,NR_145413" 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_198428" 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=607968" 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=16262&isoform_id=16262_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/BBS9" 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/1835633,1835748,1835750,1842105,4588085,4588087,21595711,38569432,38569434,51105882,51105883,74355093,75905801,75905803,97180305,119614421,119614422,119614423,119614424,193786625,193787134,194386994,1127352008,1127352012,1127352016,1127352018,1127352024,1127352027,1127352030,1127352032,1127352034,1127352038,1127352040,1407378602,2305409504,2305409533" 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/Q3SYG4" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=27241" 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=ENSG00000122507;t=ENST00000242067" 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=BBS9" 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=BBS9" 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+27241" 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/BBS9" 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:27241" 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/27241" 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=chr7&hgg_gene=ENST00000242067.11&hgg_start=33129285&hgg_end=33635767&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:30000" 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=607968[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=607968[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/BBS9/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000122507" 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=BBS9" 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=BBS9" 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=BBS9" 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="http://www.euro-wabb.org/en/lovd-genetic-variation-database" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=BBS9&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/PA162377359" 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:30000" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0034622.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2442833" 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/BBS9#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:2442833" 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/27241/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002178/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=27241" 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=WBGene00016744;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-081027-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=BBS9&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607968
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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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|
PARATHYROID HORMONE-RESPONSIVE B1 GENE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PTH-RESPONSIVE B1 GENE; B1; PTHB1<br />
|
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BBS9 GENE; BBS9
|
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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=BBS9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BBS9</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/7/180?start=-3&limit=10&highlight=180">7p14.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:33129285-33635767&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'})">7:33,129,285-33,635,767</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<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>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/180?start=-3&limit=10&highlight=180">
|
|
7p14.3
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Bardet-Biedl syndrome 9
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615986"> 615986 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607968" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607968" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>PTHB1 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis (<a href="#5" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Adams, A. E., Rosenblatt, M., Suva, L. J. <strong>Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.</strong> Bone 24: 305-313, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10221542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10221542</a>] [<a href="https://doi.org/10.1016/s8756-3282(98)00188-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10221542">Adams et al. (1999)</a> used mRNA differential display of osteoblastic cell line (SaoS-2/B10) total RNA and identified B1 as a gene downregulated by parathyroid hormone (PTH; <a href="/entry/168450">168450</a>). By 5-prime RACE of SaoS-2/B10 RNA, they obtained a full-length B1 cDNA and several B1 splice variants. The deduced 802-amino acid protein is encoded by a 3.5-kb clone and shows characteristics of a globular intracellular protein. Northern blot analysis using sequence-specific probes detected multiple transcripts of 1.2 to 4.4 kb expressed in the SaoS-2/B10 cell line and several normal tissues. Expression was detected in adult heart, skeletal muscle, lung, liver, kidney, placenta, and brain, and in fetal kidney, lung, liver, and brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10221542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> identified several isoforms of B1, including isoforms containing unspliced introns 12 and 21. RT-PCR detected expression of tissue-specific B1 isoforms in all adult and fetal tissues examined. <a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> also identified several unique isoforms specific to Wilms tumor-5 (WT5; <a href="/entry/601583">601583</a>) tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> determined that the B1 gene contains 24 exons and spans more than 700 kb. Exon 23 is part of a mammalian apparent long-terminal repeat retrotransposon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Adams, A. E., Rosenblatt, M., Suva, L. J. <strong>Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.</strong> Bone 24: 305-313, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10221542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10221542</a>] [<a href="https://doi.org/10.1016/s8756-3282(98)00188-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10221542">Adams et al. (1999)</a> mapped the B1 gene to chromosome 7 in a region containing a locus for retinitis pigmentosa (RP9; <a href="/entry/607331">607331</a>). By genomic sequence analysis of a breakpoint associated with a WT5 tumor, <a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> mapped the B1 gene to chromosome 7p14. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12618763+10221542" 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="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> found that BBS1 (<a href="/entry/209901">209901</a>), BBS2 (<a href="/entry/606151">606151</a>), BBS4 (<a href="/entry/600374">600374</a>), BBS5 (<a href="/entry/603650">603650</a>), BBS7 (<a href="/entry/607590">607590</a>), BBS8 (TTC8; <a href="/entry/608132">608132</a>), and BBS9 copurified in stoichiometric amounts from human retinal pigment epithelium (RPE) cells and from mouse testis. PCM1 (<a href="/entry/600299">600299</a>) and alpha-tubulin (see <a href="/entry/602529">602529</a>)/beta-tubulin (<a href="/entry/191130">191130</a>) copurified in substoichiometric amounts. The apparent molecular mass of the complex, which <a href="#5" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> called the BBSome, was 438 kD, and it had a sedimentation coefficient of 14S. The complex localized with PCM1 to nonmembranous centriolar satellites in the cytoplasm and, in the absence of PCM1, to the ciliary membrane. Cotransfection and immunoprecipitation experiments suggested that BBS9 was the complex-organizing subunit and that BBS5 mediated binding to phospholipids, predominantly phosphatidylinositol 3-phosphate. BBS1 mediated interaction with RABIN8 (RAB3IP; <a href="/entry/608686">608686</a>), the guanine nucleotide exchange factor for the small G protein RAB8 (RAB8A; <a href="/entry/165040">165040</a>). <a href="#5" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> found that RAB8 promoted ciliary membrane growth through fusion of exocytic vesicles to the base of the ciliary membrane. They concluded that BBS proteins likely function in membrane trafficking to the primary cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" 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="#4" class="mim-tip-reference" title="Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V. <strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong> Dev. Cell 15: 854-865, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19081074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19081074</a>] [<a href="https://doi.org/10.1016/j.devcel.2008.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19081074">Loktev et al. (2008)</a> found that BBIP10 (<a href="/entry/613605">613605</a>) copurified and cosedimented with the BBS protein complex from RPE cells. Knockdown of BBIP10 in RPE cells via small interfering RNA compromised assembly of the BBS protein complex and caused failure of ciliogenesis. Knockdown of BBS1, BBS5, or PCM1 resulted in a similar failure of ciliogenesis in RPE cells. Depletion of BBIP10 or BBS8 increased the frequency of centrosome splitting in interphase cells. BBIP10 also had roles in cytoplasmic microtubule stabilization and acetylation that appeared to be independent of its role in assembly of the BBS protein complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19081074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a protein pull-down assay with homogenized bovine retina, <a href="#3" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> showed that ARL6 (<a href="/entry/608845">608845</a>) bound the BBS protein complex. Depletion of ARL6 in human RPE cells did not affect assembly of the complex, but it blocked its localization to cilia. Targeting of ARL6 and the protein complex to cilia required GTP binding by ARL6, but not ARL6 GTPase activity. When in the GTP-bound form, the N-terminal amphipathic helix of ARL6 bound brain lipid liposomes and recruited the BBS protein complex. Upon recruitment, the complex appeared to polymerize into an electron-dense planar coat, and it functioned in lateral transport of test cargo proteins to ciliary membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20603001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mass spectrometric analysis of transgenic mouse testis, <a href="#7" class="mim-tip-reference" title="Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C. <strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong> PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22072986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22072986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22072986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1002358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22072986">Seo et al. (2011)</a> found that Lxtfl1 (<a href="/entry/606568">606568</a>) copurified with human BBS4 and with the core mouse BBS complex subunits Bbs1, Bbs2, Bbs5, Bbs7, Bbs8, and Bbs9. Immunohistochemical analysis of human RPE cells showed colocalization of LXTFL1 and BBS9 in cytoplasmic punctae. Use of small interfering RNA revealed distinct functions for each BBS subunit in BBS complex assembly and trafficking. LZTFL1 depletion and overexpression studies showed a negative role for LZTFL1 in BBS complex trafficking, but no effect of LZTFL1 on BBS complex assembly. Mutation analysis revealed that the C-terminal half of Lztfl1 interacted with the C-terminal domain of Bbs9 and that the N-terminal half of Lztfl1 negatively regulated BBS complex trafficking. Depletion of several BBS subunits and LZTFL1 also altered Hedgehog (SHH; <a href="/entry/600725">600725</a>) signaling, as measured by GLI1 (<a href="/entry/165220">165220</a>) expression and ciliary trafficking of SMO (SMOH; <a href="/entry/601500">601500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22072986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using computational analysis, <a href="#3" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> found that the BBS protein complex shares structural features with the canonical coat complexes COPI (<a href="/entry/601924">601924</a>), COPII (see <a href="/entry/610511">610511</a>), and clathrin AP1 (see <a href="/entry/603531">603531</a>). BBS4 and BBS8 consist almost entirely of tetratricopeptide repeats (TPRs) (13 and 12.5 TPRs, respectively), which are predicted to fold into extended rod-shaped alpha solenoids. BBS1, BBS2, BBS7, and BBS9 each have an N-terminal beta-propeller fold followed by an amphipathic helical linker and a gamma-adaptin (AP1G1; <a href="/entry/603533">603533</a>) ear motif. In BBS2, BBS7, and BBS9, the ear motif is followed by an alpha/beta platform domain and an alpha helix. In BBS1, a 4-helix bundle is inserted between the second and third blades of the beta propeller. BBS5 contains 2 pleckstrin (PLEK; <a href="/entry/173570">173570</a>) homology domains and a 3-helix bundle, while BBIP10 consists of 2 alpha helices. <a href="#3" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> concluded that the abundance of beta propellers, alpha solenoids, and appendage domains inside the BBS protein complex suggests that it shares an evolutionary relationship with canonical coat complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20603001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using homozygosity mapping of small consanguineous families with Bardet-Biedl syndrome (see BBS9; <a href="/entry/615986">615986</a>) followed by comparative genomic analysis, expression studies, and sequencing, <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> identified the parathyroid hormone-responsive gene B1 as a novel BBS gene, BBS9. The tissue expression pattern of B1 was similar to that of other BBS genes; as is the case with other BBS genes, the B1 gene is expressed in ciliated cells in C. elegans. <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> stated that the B1 protein has no similarity to other known BBS proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> found that the B1 gene was interrupted by a translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities. The breakpoint bisected intron 1 of the obscurin gene (<a href="/entry/608616">608616</a>) on chromosome 1 and intron 22 of the B1 gene on chromosome 7. The translocation altered expression of 2 B1 isoforms. <a href="#8" class="mim-tip-reference" title="Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W. <strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong> Oncogene 22: 1371-1380, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>] [<a href="https://doi.org/10.1038/sj.onc.1206332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618763">Vernon et al. (2003)</a> also identified additional B1 splice isoforms and aberrant isoform expression in 2 of 8 additional WT5 tumors that showed 7p loss of heterozygosity. These splice variants were tumor-specific and were not associated with tumor differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" 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> rs201938124 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201938124;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/rs201938124?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=rs201938124" 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=rs201938124" 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 patient with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>) with consanguineous parents, <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> demonstrated homozygosity for a splice site mutation, IVS17+1G-A (IVS17+1G-A, NM_198428), in the PTHB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> identified homozygosity for an arg598-to-stop (R598X) mutation that arose from a 1792C-T transition (c.1792C-T, NM_198428) in exon 18 of the PTHB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" 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">rs587777810 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777810;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=rs587777810" 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=rs587777810" 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=RCV000002777" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002777" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002777</a>
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<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> identified homozygosity for a 1-bp insertion in exon 19 of the PTHB1 gene (c.2046insC, NM_198428) predicting a frameshift mutation, Lys683fsTer687 (K683fsX687). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 BARDET-BIEDL SYNDROME 9</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852857 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852857;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=rs137852857" 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=rs137852857" 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=RCV000002778 OR RCV004799728" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002778, RCV004799728" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002778...</a>
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<p>In a brother and sister with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> identified a homozygous G-to-A transition in exon 5 of the PTHB1 gene (c.421G-A, NM_198428) predicting a missense mutation, gly141-to-arg (G141R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 BARDET-BIEDL SYNDROME 9</strong>
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BBS9, GLN355TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852858 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852858;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=rs137852858" 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=rs137852858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002779 OR RCV001002885 OR RCV003221780 OR RCV004745142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002779, RCV001002885, RCV003221780, RCV004745142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002779...</a>
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<span class="mim-text-font">
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<p>In a brother and sister with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> identified homozygosity for a C-to-T transition (c.1063C-T, NM_198428) in exon 10 of the PTHB1 gene that resulted in a gln355-to-ter (Q355X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 BARDET-BIEDL SYNDROME 9</strong>
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</h4>
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BBS9, IVS5DS, G-C, +1
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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> rs587777811 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777811;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/rs587777811?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=rs587777811" 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=rs587777811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002780 OR RCV003522916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002780, RCV003522916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002780...</a>
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<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a> found compound heterozygosity for 2 mutations in the PTHB1 gene. One of the mutations involved a splice donor site (IVS5+1G-C, NM_198428); the other was a deletion of 4 nucleotides, 1877_1880delAACA (<a href="#0007">607968.0007</a>), which was found in homozygous state in another family. The 4-bp deletion predicted a frameshift, Lys626fsTer647 (K626fsX647). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 BARDET-BIEDL SYNDROME 9</strong>
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BBS9, 4-BP DEL, 1887AACA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231137 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231137;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=rs606231137" 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=rs606231137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002781 OR RCV000433738 OR RCV000614851 OR RCV000709632 OR RCV003421896 OR RCV004814805" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002781, RCV000433738, RCV000614851, RCV000709632, RCV003421896, RCV004814805" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002781...</a>
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<p>For discussion of the 4-bp deletion (c.1877_1880delAACA, NM_198428) in the BBS9 gene that was found in compound heterozygous state in a patient with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>) by <a href="#6" class="mim-tip-reference" title="Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C. <strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong> Am. J. Hum. Genet. 77: 1021-1033, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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/10.1086/498323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380913">Nishimura et al. (2005)</a>, see <a href="#0006">607968.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 BARDET-BIEDL SYNDROME 9</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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BBS9, EX6DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024320" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024320" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024320</a>
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<p>In 3 Arab sibs with Bardet-Biedl syndrome-9 (BBS9; <a href="/entry/615986">615986</a>), <a href="#1" class="mim-tip-reference" title="Abu-Safieh, L., Al-Anazi, S., Al-Abdi, L., Hashem, M., Alkuraya, H., Alamr, M., Sirelkhatim, M. O., Al-Hassnan, Z., Alkuraya, B., Mohamed, J. Y., Al-Salem, A., Alrashed, M., and 11 others. <strong>In search of triallelism in Bardet-Biedl syndrome.</strong> Europ. J. Hum. Genet. 20: 420-427, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22353939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22353939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22353939[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/ejhg.2011.205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22353939">Abu-Safieh et al. (2012)</a> identified a homozygous mutation in the PTHB1 gene (c.442+3_704del, NM_014451.3), resulting in the deletion of exon 6 (G148_V234del). One sib had most of the major features of the disorder, including obesity, mental retardation, renal disease, polydactyly, and retinitis pigmentosa, but the other 2 sibs had retinitis pigmentosa with no additional features. The findings indicated an unusually high degree of intrafamilial variability in BBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22353939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Abu-Safieh2012" class="mim-anchor"></a>
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Abu-Safieh, L., Al-Anazi, S., Al-Abdi, L., Hashem, M., Alkuraya, H., Alamr, M., Sirelkhatim, M. O., Al-Hassnan, Z., Alkuraya, B., Mohamed, J. Y., Al-Salem, A., Alrashed, M., and 11 others.
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<strong>In search of triallelism in Bardet-Biedl syndrome.</strong>
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Europ. J. Hum. Genet. 20: 420-427, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22353939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22353939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22353939[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=22353939" 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/ejhg.2011.205" target="_blank">Full Text</a>]
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<a id="Adams1999" class="mim-anchor"></a>
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<p class="mim-text-font">
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Adams, A. E., Rosenblatt, M., Suva, L. J.
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<strong>Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.</strong>
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Bone 24: 305-313, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10221542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10221542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10221542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s8756-3282(98)00188-4" target="_blank">Full Text</a>]
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<a id="Jin2010" class="mim-anchor"></a>
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Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V.
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<strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong>
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Cell 141: 1208-1219, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[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=20603001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank">Full Text</a>]
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Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V.
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<strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong>
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Dev. Cell 15: 854-865, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19081074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19081074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19081074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2008.11.001" target="_blank">Full Text</a>]
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Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K.
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<strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong>
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Cell 129: 1201-1213, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank">Full Text</a>]
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Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C.
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<strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong>
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Am. J. Hum. Genet. 77: 1021-1033, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380913[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=16380913" 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/10.1086/498323" target="_blank">Full Text</a>]
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<a id="Seo2011" class="mim-anchor"></a>
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Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C.
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<strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong>
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PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22072986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22072986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22072986[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=22072986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1002358" target="_blank">Full Text</a>]
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Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W.
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<strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong>
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Oncogene 22: 1371-1380, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618763" 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/sj.onc.1206332" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/12/2012
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/24/2012<br>Patricia A. Hartz - updated : 10/13/2010<br>Victor A. McKusick - updated : 12/12/2005
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Creation Date:
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Patricia A. Hartz : 7/22/2003
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alopez : 06/20/2017
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carol : 02/05/2016<br>carol : 1/30/2016<br>alopez : 7/23/2015<br>carol : 11/6/2014<br>alopez : 10/16/2014<br>joanna : 8/5/2013<br>mgross : 11/12/2012<br>carol : 5/31/2012<br>ckniffin : 5/24/2012<br>mgross : 10/15/2010<br>terry : 10/13/2010<br>terry : 10/13/2010<br>alopez : 12/19/2005<br>terry : 12/12/2005<br>mgross : 4/27/2004<br>carol : 3/19/2004<br>mgross : 7/22/2003
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<strong>*</strong> 607968
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PARATHYROID HORMONE-RESPONSIVE B1 GENE
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<em>Alternative titles; symbols</em>
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PTH-RESPONSIVE B1 GENE; B1; PTHB1<br />
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BBS9 GENE; BBS9
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: BBS9</em></strong>
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<strong>
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Cytogenetic location: 7p14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:33,129,285-33,635,767 </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 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>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
7p14.3
|
|
</span>
|
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</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
Bardet-Biedl syndrome 9
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
615986
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
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</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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|
</span>
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</h4>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>PTHB1 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis (Nachury et al., 2007). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<span class="mim-text-font">
|
|
<p>Adams et al. (1999) used mRNA differential display of osteoblastic cell line (SaoS-2/B10) total RNA and identified B1 as a gene downregulated by parathyroid hormone (PTH; 168450). By 5-prime RACE of SaoS-2/B10 RNA, they obtained a full-length B1 cDNA and several B1 splice variants. The deduced 802-amino acid protein is encoded by a 3.5-kb clone and shows characteristics of a globular intracellular protein. Northern blot analysis using sequence-specific probes detected multiple transcripts of 1.2 to 4.4 kb expressed in the SaoS-2/B10 cell line and several normal tissues. Expression was detected in adult heart, skeletal muscle, lung, liver, kidney, placenta, and brain, and in fetal kidney, lung, liver, and brain. </p><p>Vernon et al. (2003) identified several isoforms of B1, including isoforms containing unspliced introns 12 and 21. RT-PCR detected expression of tissue-specific B1 isoforms in all adult and fetal tissues examined. Vernon et al. (2003) also identified several unique isoforms specific to Wilms tumor-5 (WT5; 601583) tumors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Vernon et al. (2003) determined that the B1 gene contains 24 exons and spans more than 700 kb. Exon 23 is part of a mammalian apparent long-terminal repeat retrotransposon. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Adams et al. (1999) mapped the B1 gene to chromosome 7 in a region containing a locus for retinitis pigmentosa (RP9; 607331). By genomic sequence analysis of a breakpoint associated with a WT5 tumor, Vernon et al. (2003) mapped the B1 gene to chromosome 7p14. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Nachury et al. (2007) found that BBS1 (209901), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS8 (TTC8; 608132), and BBS9 copurified in stoichiometric amounts from human retinal pigment epithelium (RPE) cells and from mouse testis. PCM1 (600299) and alpha-tubulin (see 602529)/beta-tubulin (191130) copurified in substoichiometric amounts. The apparent molecular mass of the complex, which Nachury et al. (2007) called the BBSome, was 438 kD, and it had a sedimentation coefficient of 14S. The complex localized with PCM1 to nonmembranous centriolar satellites in the cytoplasm and, in the absence of PCM1, to the ciliary membrane. Cotransfection and immunoprecipitation experiments suggested that BBS9 was the complex-organizing subunit and that BBS5 mediated binding to phospholipids, predominantly phosphatidylinositol 3-phosphate. BBS1 mediated interaction with RABIN8 (RAB3IP; 608686), the guanine nucleotide exchange factor for the small G protein RAB8 (RAB8A; 165040). Nachury et al. (2007) found that RAB8 promoted ciliary membrane growth through fusion of exocytic vesicles to the base of the ciliary membrane. They concluded that BBS proteins likely function in membrane trafficking to the primary cilium. </p><p>Loktev et al. (2008) found that BBIP10 (613605) copurified and cosedimented with the BBS protein complex from RPE cells. Knockdown of BBIP10 in RPE cells via small interfering RNA compromised assembly of the BBS protein complex and caused failure of ciliogenesis. Knockdown of BBS1, BBS5, or PCM1 resulted in a similar failure of ciliogenesis in RPE cells. Depletion of BBIP10 or BBS8 increased the frequency of centrosome splitting in interphase cells. BBIP10 also had roles in cytoplasmic microtubule stabilization and acetylation that appeared to be independent of its role in assembly of the BBS protein complex. </p><p>Using a protein pull-down assay with homogenized bovine retina, Jin et al. (2010) showed that ARL6 (608845) bound the BBS protein complex. Depletion of ARL6 in human RPE cells did not affect assembly of the complex, but it blocked its localization to cilia. Targeting of ARL6 and the protein complex to cilia required GTP binding by ARL6, but not ARL6 GTPase activity. When in the GTP-bound form, the N-terminal amphipathic helix of ARL6 bound brain lipid liposomes and recruited the BBS protein complex. Upon recruitment, the complex appeared to polymerize into an electron-dense planar coat, and it functioned in lateral transport of test cargo proteins to ciliary membranes. </p><p>By mass spectrometric analysis of transgenic mouse testis, Seo et al. (2011) found that Lxtfl1 (606568) copurified with human BBS4 and with the core mouse BBS complex subunits Bbs1, Bbs2, Bbs5, Bbs7, Bbs8, and Bbs9. Immunohistochemical analysis of human RPE cells showed colocalization of LXTFL1 and BBS9 in cytoplasmic punctae. Use of small interfering RNA revealed distinct functions for each BBS subunit in BBS complex assembly and trafficking. LZTFL1 depletion and overexpression studies showed a negative role for LZTFL1 in BBS complex trafficking, but no effect of LZTFL1 on BBS complex assembly. Mutation analysis revealed that the C-terminal half of Lztfl1 interacted with the C-terminal domain of Bbs9 and that the N-terminal half of Lztfl1 negatively regulated BBS complex trafficking. Depletion of several BBS subunits and LZTFL1 also altered Hedgehog (SHH; 600725) signaling, as measured by GLI1 (165220) expression and ciliary trafficking of SMO (SMOH; 601500). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using computational analysis, Jin et al. (2010) found that the BBS protein complex shares structural features with the canonical coat complexes COPI (601924), COPII (see 610511), and clathrin AP1 (see 603531). BBS4 and BBS8 consist almost entirely of tetratricopeptide repeats (TPRs) (13 and 12.5 TPRs, respectively), which are predicted to fold into extended rod-shaped alpha solenoids. BBS1, BBS2, BBS7, and BBS9 each have an N-terminal beta-propeller fold followed by an amphipathic helical linker and a gamma-adaptin (AP1G1; 603533) ear motif. In BBS2, BBS7, and BBS9, the ear motif is followed by an alpha/beta platform domain and an alpha helix. In BBS1, a 4-helix bundle is inserted between the second and third blades of the beta propeller. BBS5 contains 2 pleckstrin (PLEK; 173570) homology domains and a 3-helix bundle, while BBIP10 consists of 2 alpha helices. Jin et al. (2010) concluded that the abundance of beta propellers, alpha solenoids, and appendage domains inside the BBS protein complex suggests that it shares an evolutionary relationship with canonical coat complexes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using homozygosity mapping of small consanguineous families with Bardet-Biedl syndrome (see BBS9; 615986) followed by comparative genomic analysis, expression studies, and sequencing, Nishimura et al. (2005) identified the parathyroid hormone-responsive gene B1 as a novel BBS gene, BBS9. The tissue expression pattern of B1 was similar to that of other BBS genes; as is the case with other BBS genes, the B1 gene is expressed in ciliated cells in C. elegans. Nishimura et al. (2005) stated that the B1 protein has no similarity to other known BBS proteins. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Vernon et al. (2003) found that the B1 gene was interrupted by a translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities. The breakpoint bisected intron 1 of the obscurin gene (608616) on chromosome 1 and intron 22 of the B1 gene on chromosome 7. The translocation altered expression of 2 B1 isoforms. Vernon et al. (2003) also identified additional B1 splice isoforms and aberrant isoform expression in 2 of 8 additional WT5 tumors that showed 7p loss of heterozygosity. These splice variants were tumor-specific and were not associated with tumor differentiation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, IVS17DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs201938124,
|
|
|
|
|
|
gnomAD: rs201938124,
|
|
|
|
|
|
ClinVar: RCV000002775, RCV000413775, RCV003522915, RCV004745141
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; 615986) with consanguineous parents, Nishimura et al. (2005) demonstrated homozygosity for a splice site mutation, IVS17+1G-A (IVS17+1G-A, NM_198428), in the PTHB1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, ARG598TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852856,
|
|
|
|
|
|
gnomAD: rs137852856,
|
|
|
|
|
|
ClinVar: RCV000002776, RCV000735941, RCV004813029
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; 615986), Nishimura et al. (2005) identified homozygosity for an arg598-to-stop (R598X) mutation that arose from a 1792C-T transition (c.1792C-T, NM_198428) in exon 18 of the PTHB1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, 1-BP INS, 2046C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777810,
|
|
|
|
|
|
|
|
ClinVar: RCV000002777
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; 615986), Nishimura et al. (2005) identified homozygosity for a 1-bp insertion in exon 19 of the PTHB1 gene (c.2046insC, NM_198428) predicting a frameshift mutation, Lys683fsTer687 (K683fsX687). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, GLY141ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852857,
|
|
|
|
|
|
|
|
ClinVar: RCV000002778, RCV004799728
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister with Bardet-Biedl syndrome-9 (BBS9; 615986), Nishimura et al. (2005) identified a homozygous G-to-A transition in exon 5 of the PTHB1 gene (c.421G-A, NM_198428) predicting a missense mutation, gly141-to-arg (G141R). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, GLN355TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852858,
|
|
|
|
|
|
|
|
ClinVar: RCV000002779, RCV001002885, RCV003221780, RCV004745142
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister with Bardet-Biedl syndrome-9 (BBS9; 615986), Nishimura et al. (2005) identified homozygosity for a C-to-T transition (c.1063C-T, NM_198428) in exon 10 of the PTHB1 gene that resulted in a gln355-to-ter (Q355X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BARDET-BIEDL SYNDROME 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS9, IVS5DS, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777811,
|
|
|
|
|
|
gnomAD: rs587777811,
|
|
|
|
|
|
ClinVar: RCV000002780, RCV003522916
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome-9 (BBS9; 615986), Nishimura et al. (2005) found compound heterozygosity for 2 mutations in the PTHB1 gene. One of the mutations involved a splice donor site (IVS5+1G-C, NM_198428); the other was a deletion of 4 nucleotides, 1877_1880delAACA (607968.0007), which was found in homozygous state in another family. The 4-bp deletion predicted a frameshift, Lys626fsTer647 (K626fsX647). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BARDET-BIEDL SYNDROME 9</strong>
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<span class="mim-text-font">
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BBS9, 4-BP DEL, 1887AACA
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<br />
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SNP: rs606231137,
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ClinVar: RCV000002781, RCV000433738, RCV000614851, RCV000709632, RCV003421896, RCV004814805
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<p>For discussion of the 4-bp deletion (c.1877_1880delAACA, NM_198428) in the BBS9 gene that was found in compound heterozygous state in a patient with Bardet-Biedl syndrome-9 (BBS9; 615986) by Nishimura et al. (2005), see 607968.0006. </p>
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<span class="mim-font">
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<strong>.0008 BARDET-BIEDL SYNDROME 9</strong>
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</h4>
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<span class="mim-text-font">
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BBS9, EX6DEL
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<br />
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ClinVar: RCV000024320
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</span>
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<p>In 3 Arab sibs with Bardet-Biedl syndrome-9 (BBS9; 615986), Abu-Safieh et al. (2012) identified a homozygous mutation in the PTHB1 gene (c.442+3_704del, NM_014451.3), resulting in the deletion of exon 6 (G148_V234del). One sib had most of the major features of the disorder, including obesity, mental retardation, renal disease, polydactyly, and retinitis pigmentosa, but the other 2 sibs had retinitis pigmentosa with no additional features. The findings indicated an unusually high degree of intrafamilial variability in BBS. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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Abu-Safieh, L., Al-Anazi, S., Al-Abdi, L., Hashem, M., Alkuraya, H., Alamr, M., Sirelkhatim, M. O., Al-Hassnan, Z., Alkuraya, B., Mohamed, J. Y., Al-Salem, A., Alrashed, M., and 11 others.
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<strong>In search of triallelism in Bardet-Biedl syndrome.</strong>
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Europ. J. Hum. Genet. 20: 420-427, 2012.
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[PubMed: 22353939]
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[Full Text: https://doi.org/10.1038/ejhg.2011.205]
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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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Adams, A. E., Rosenblatt, M., Suva, L. J.
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<strong>Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells.</strong>
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Bone 24: 305-313, 1999.
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[PubMed: 10221542]
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[Full Text: https://doi.org/10.1016/s8756-3282(98)00188-4]
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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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Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V.
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<strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong>
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Cell 141: 1208-1219, 2010.
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[PubMed: 20603001]
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[Full Text: https://doi.org/10.1016/j.cell.2010.05.015]
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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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Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V.
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<strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong>
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Dev. Cell 15: 854-865, 2008.
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[PubMed: 19081074]
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[Full Text: https://doi.org/10.1016/j.devcel.2008.11.001]
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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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Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K.
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<strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong>
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Cell 129: 1201-1213, 2007.
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[PubMed: 17574030]
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[Full Text: https://doi.org/10.1016/j.cell.2007.03.053]
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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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Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M., Sheffield, V. C.
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<strong>Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.</strong>
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Am. J. Hum. Genet. 77: 1021-1033, 2005.
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[PubMed: 16380913]
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[Full Text: https://doi.org/10.1086/498323]
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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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Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C.
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<strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong>
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PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.
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[PubMed: 22072986]
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[Full Text: https://doi.org/10.1371/journal.pgen.1002358]
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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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Vernon, E. G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A. R., Jackson, S., Henthorn, K., Green, E. D., Brown, K. W.
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<strong>The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.</strong>
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Oncogene 22: 1371-1380, 2003.
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[PubMed: 12618763]
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[Full Text: https://doi.org/10.1038/sj.onc.1206332]
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</p>
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</li>
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</ol>
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<div>
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/12/2012<br>Cassandra L. Kniffin - updated : 5/24/2012<br>Patricia A. Hartz - updated : 10/13/2010<br>Victor A. McKusick - updated : 12/12/2005
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<span class="mim-text-font">
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Patricia A. Hartz : 7/22/2003
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