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Entry
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- *135600 - FIBRONECTIN 1; FN1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*135600</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/135600">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000115414;t=ENST00000354785" 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=2335" 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=135600" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000115414;t=ENST00000354785" 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_001306129,NM_001306130,NM_001306131,NM_001306132,NM_001365517,NM_001365518,NM_001365519,NM_001365520,NM_001365521,NM_001365522,NM_001365523,NM_001365524,NM_002026,NM_054034,NM_212474,NM_212476,NM_212478,NM_212482" 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_212482" 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=135600" 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=00626&isoform_id=00626_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/FN1" 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/31397,182695,182697,182703,182704,182706,553293,553294,553295,4096824,4096827,4096846,4096848,4096850,4096852,4096854,4096858,4096860,4096862,4204943,4204945,5725425,5725426,11119231,11493494,12053817,15866734,15866738,15866742,27227743,30582551,30722344,31873670,31874109,31874111,31874157,34364617,34364666,34364820,34364928,34365170,34365241,34365361,34366425,34783264,38014025,47132547,51476292,51476362,51476364,51477022,53791223,60219509,62088154,62089266,62198449,62718892,62988675,109658664,119590936,119590937,119590938,119590939,119590940,119590941,119590942,119590943,119590944,119590945,119590946,119590947,119590948,119590949,119590950,119590951,119590952,119590953,119590954,150404441,150404443,150404445,150404447,150404449,150404451,194387438,194390444,194390508,194390838,219517986,219518912,221046088,308219724,1465395695,1465395697,1465395699,1465395701,1465395703,1465395705,1465395707,1465395709,1767132020,1831772076,1831772078,1831772092,1831772095,1831772097,1831772112,1831772115,1831772124,1831772128" 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/P02751" 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=2335" 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=ENSG00000115414;t=ENST00000354785" 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=FN1" 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=FN1" 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+2335" 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/FN1" 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:2335" 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/2335" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000354785.11&hgg_start=215360865&hgg_end=215436068&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">
|
|
<span class="panel-title">
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:3778" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/fn1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=135600[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=135600[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/FN1/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/ENSG00000115414" 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=FN1" 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=FN1" 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=FN1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FN1&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/PA28194" 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:3778" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95566" 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/FN1#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:95566" 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/2335/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2335" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-000426-1" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2335" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=FN1&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>
|
|
<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254078005, 722759007<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
135600
|
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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>
|
|
<span class="mim-font">
|
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FIBRONECTIN 1; FN1
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FN<br />
|
|
LARGE, EXTERNAL, TRANSFORMATION-SENSITIVE PROTEIN; LETS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FN1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/985?start=-3&limit=10&highlight=985">2q35</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:215360865-215436068&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:215,360,865-215,436,068</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=601894,184255" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/985?start=-3&limit=10&highlight=985">
|
|
2q35
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glomerulopathy with fibronectin deposits 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601894"> 601894 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
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|
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</tr>
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<p>Fibronectin-1 belongs to a family of high molecular weight glycoproteins that are present on cell surfaces, in extracellular fluids, connective tissues, and basement membranes. Fibronectins interact with other extracellular matrix proteins and cellular ligands, such as collagen, fibrin, and integrins. Fibronectins are involved in adhesive and migratory processes of cells. Two major forms of fibronectin exist: a plasma soluble form and a cellular form (summary by <a href="#26" class="mim-tip-reference" title="Muro, A. F., Chauhan, A. K., Gajovic, S., Iaconcig, A., Porro, F., Stanta, G., Baralle, F. E. <strong>Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.</strong> J. Cell. Biol. 162: 149-160, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847088</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12847088[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/10.1083/jcb.200212079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12847088">Muro et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12847088" 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="#16" class="mim-tip-reference" title="Kornblihtt, A. R., Vibe-Pedersen, K., Baralle, F. E. <strong>Isolation and characterization of cDNA clones for human and bovine fibronectins.</strong> Proc. Nat. Acad. Sci. 80: 3218-3222, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6304699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6304699</a>] [<a href="https://doi.org/10.1073/pnas.80.11.3218" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6304699">Kornblihtt et al. (1983)</a> isolated clones corresponding to the human fibronectin gene from a human carcinoma cDNA library. The sequence showed approximately 90% homology to the bovine sequence. Fibronectin mRNA was estimated to be 7.9 kb. The data suggested that fibronectin is coded by a single gene and that the cellular and plasma proteins arise from post-transcriptional events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6304699" 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="#17" class="mim-tip-reference" title="Kornblihtt, A. R., Vibe-Pedersen, K., Baralle, F. E. <strong>Human fibronectin: molecular cloning evidence for two mRNA species differing by an internal segment coding for a structural domain.</strong> EMBO J. 3: 221-226, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6200322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6200322</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1984.tb01787.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6200322">Kornblihtt et al. (1984)</a> identified 2 different fibronectin cDNA clones and corresponding mRNAs that differed by the presence or absence of a 270-bp internal fragment (termed ED for 'extra domain,' EDA, or EDIIIA) that encodes a 90-residue domain of type III homology found in the bovine protein. This 90-residue fragment is in the C terminus between the cell attachment and heparin-binding domains of the protein. Human liver produced mainly the form without the internal fragment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6200322" 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="#15" class="mim-tip-reference" title="Kornblihtt, A. R., Umezawa, K., Vibe-Pedersen, K., Baralle, F. E. <strong>Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene.</strong> EMBO J. 4: 1755-1759, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2992939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2992939</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1985.tb03847.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2992939">Kornblihtt et al. (1985)</a> determined that the fibronectin gene encodes a polypeptide of 2,146 to 2,325 residues, depending on which internal splicing has taken place. The primary structure of the protein contains several internal homologous regions, reflecting high complexity. Different motifs showed specific binding domains for fibrin, heparin, collagen, and DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2992939" 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="#37" class="mim-tip-reference" title="Sekiguchi, K., Klos, A. M., Kurachi, K., Yoshitake, S., Hakomori, S. <strong>Human liver fibronectin complementary DNAs: identification of two different messenger RNAs possibly encoding the alpha and beta subunits of plasma fibronectin.</strong> Biochemistry 25: 4936-4941, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3021206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3021206</a>] [<a href="https://doi.org/10.1021/bi00365a032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3021206">Sekiguchi et al. (1986)</a> also found that liver fibronectin cDNAs lacked the ED segment that is present in most cDNAs encoding cellular fibronectin. Furthermore, 2 liver cDNAs differed in sequence at the 'type III connecting segment' (IIICS) region by the presence or absence of 192 bp with flanking regions. Cellular FN1 cDNAs contained the 192-base IIICS region. Thus, cellular fibronectin appears to have extra peptide segments, encoded by the IIICS region and its flanking segments as well as the 270-base ED region, that are mostly absent in liver fibronectin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3021206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gutman, A., Kornblihtt, A. R. <strong>Identification of a third region of cell-specific alternative splicing in human fibronectin mRNA.</strong> Proc. Nat. Acad. Sci. 84: 7179-7182, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3478690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3478690</a>] [<a href="https://doi.org/10.1073/pnas.84.20.7179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3478690">Gutman and Kornblihtt (1987)</a> described a third region of variability in human fibronectin in addition to the EDA and IIICS regions. This third region resembles the EDA and consists of a 273-nucleotide exon (termed 'EDII,' EDB, or EDIIIB) encoding exactly one 91-amino acid repeat of type III homology located between the DNA- and the cell-binding domains of FN. The 2 corresponding mRNA variants were present in cells known to synthesize the cellular form of FN. Liver cells, which are the source of plasma FN, produced only messengers without the EDB. <a href="#9" class="mim-tip-reference" title="Gutman, A., Kornblihtt, A. R. <strong>Identification of a third region of cell-specific alternative splicing in human fibronectin mRNA.</strong> Proc. Nat. Acad. Sci. 84: 7179-7182, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3478690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3478690</a>] [<a href="https://doi.org/10.1073/pnas.84.20.7179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3478690">Gutman and Kornblihtt (1987)</a> concluded that both the EDA and EDB sequences are restricted to cellular FN. Combination of all the possible patterns of splicing in the 3 regions described could theoretically generate as many as 20 distinct FN polypeptides from a single gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3478690" 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 human-mouse somatic cell hybrids, <a href="#14" class="mim-tip-reference" title="Koch, G. A., Schoen, R. C., Klebe, R. J., Shows, T. B. <strong>Assignment of a fibronectin gene to human chromosome 2 using monoclonal antibodies.</strong> Exp. Cell Res. 141: 293-302, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6183132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6183132</a>] [<a href="https://doi.org/10.1016/0014-4827(82)90217-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6183132">Koch et al. (1982)</a> mapped the FN1 gene to chromosome 2, and <a href="#30" class="mim-tip-reference" title="Prowse, K. R., Tricoli, J. V., Klebe, R. J., Shows, T. B. <strong>Assignment of the human fibronectin structural gene to chromosome 2.</strong> Cytogenet. Cell Genet. 41: 42-46, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455912</a>] [<a href="https://doi.org/10.1159/000132194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3455912">Prowse et al. (1986)</a> confirmed this assignment with a cDNA probe applied to somatic cell hybrids. <a href="#10" class="mim-tip-reference" title="Henry, I., Jeanpierre, M., Weil, D., Grzeschik, K. H., Ramirez, F., Junien, C. <strong>The structural gene for fibronectin (FN) maps to 2q323-qter. (Abstract)</strong> Cytogenet. Cell Genet. 40: 650 only, 1985."None>Henry et al. (1985)</a> assigned FN1 to 2q23.2-qter with a genomic probe in somatic cell hybrids with rearranged human chromosomes. <a href="#43" class="mim-tip-reference" title="Wu, B.-L., Milunsky, A., Wyandt, H., Hoth, C., Baldwin, C., Skare, J. <strong>In situ hybridization applied to Waardenburg syndrome.</strong> Cytogenet. Cell Genet. 63: 29-32, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8449034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8449034</a>] [<a href="https://doi.org/10.1159/000133495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8449034">Wu et al. (1993)</a> mapped FN1 to 2q34 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8449034+6183132+3455912" 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="#38" class="mim-tip-reference" title="Skow, L. C., Adkison, L., Womack, J. E., Beamer, W. G., Taylor, B. A. <strong>Mapping of the mouse fibronectin gene (Fn-1) to chromosome 1: conservation of the Idh-1--Cryg--Fn-1 synteny group in mammals.</strong> Genomics 1: 283-286, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895729</a>] [<a href="https://doi.org/10.1016/0888-7543(87)90057-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895729">Skow et al. (1987)</a> mapped the mouse Fn1 gene to the midregion of chromosome 1, about 4 cM distal to the Cryg locus (<a href="/entry/123660">123660</a>). The mapping was done by study of recombinant inbred strains of mice and a RFLP identified with a cDNA for human fibronectin. <a href="#46" class="mim-tip-reference" title="Zneimer, S. M., Womack, J. E. <strong>Regional localization of the fibronectin and gamma crystallin genes to mouse chromosome 1 by in situ hybridization.</strong> Cytogenet. Cell Genet. 48: 238-241, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3248380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3248380</a>] [<a href="https://doi.org/10.1159/000132636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3248380">Zneimer and Womack (1988)</a> mapped fibronectin to mouse chromosome 1 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2895729+3248380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogene</em></strong></p><p>
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In meiotic chromosomes, <a href="#12" class="mim-tip-reference" title="Jhanwar, S. C., Jensen, J. T., Kaelbling, M., Chaganti, R. S. K., Klinger, H. P. <strong>In situ localization of human fibronectin (FN) genes to chromosome regions 2p14-p16, 2q34-q36, and 11q12.1-q13.5 in germ line cells, but to chromosome 2 sites only in somatic cells.</strong> Cytogenet. Cell Genet. 41: 47-53, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3943369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3943369</a>] [<a href="https://doi.org/10.1159/000132195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3943369">Jhanwar et al. (1986)</a> observed 2 sites of FN hybridization on chromosome 2, 2p16-p14 and 2q34-q36, and 1 on chromosome 11, 11q12.1-q13.5. Only the chromosome 2 sites showed hybridization in somatic cells. The authors suggested that 1 of the 2 sites on chromosome 2 might represent a pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3943369" 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 NMR spectroscopy, <a href="#36" class="mim-tip-reference" title="Schwarz-Linek, U., Werner, J. M., Pickford, A. R., Gurusiddappa, S., Kim, J. H., Pilka, E. S., Briggs, J. A. G., Gough, T. S., Hook, M., Campbell, I. D., Potts, J. R. <strong>Pathogenic bacteria attach to human fibronectin through a tandem beta-zipper.</strong> Nature 423: 177-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736686</a>] [<a href="https://doi.org/10.1038/nature01589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12736686">Schwarz-Linek et al. (2003)</a> determined the structure of a streptococcal (S. dysgalactiae) fibronectin-binding protein peptide (B3) in complex with the module pair (1)F1(2)F1 of human fibronectin. This identified the (1)F1- and (2)F1-binding motifs in B3 that form additional antiparallel beta-strands on sequential F1 modules--the first example of a tandem beta-zipper. Sequence analyses of larger regions of the fibronectin-binding proteins from S. pyogenes and S. aureus revealed a repeating pattern of F1-binding motifs that match the pattern of F1 modules in the N-terminal bacterium-binding site of fibronectin. <a href="#36" class="mim-tip-reference" title="Schwarz-Linek, U., Werner, J. M., Pickford, A. R., Gurusiddappa, S., Kim, J. H., Pilka, E. S., Briggs, J. A. G., Gough, T. S., Hook, M., Campbell, I. D., Potts, J. R. <strong>Pathogenic bacteria attach to human fibronectin through a tandem beta-zipper.</strong> Nature 423: 177-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736686</a>] [<a href="https://doi.org/10.1038/nature01589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12736686">Schwarz-Linek et al. (2003)</a> concluded that in the process of fibronectin-mediated invasion of host cells, the bacterial proteins seem to exploit the modular structure of fibronectin by forming extended tandem beta-zippers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12736686" 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 major function of the fibronectins is in the adhesion of cells to extracellular materials such as solid substrata and matrices. <a href="#2" class="mim-tip-reference" title="Bing, D. H., Almeda, S., Isliker, H., Lahav, J., Hynes, R. O. <strong>Fibronectin binds to the C1q component of complement.</strong> Proc. Nat. Acad. Sci. 79: 4198-4201, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6981115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6981115</a>] [<a href="https://doi.org/10.1073/pnas.79.13.4198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6981115">Bing et al. (1982)</a> showed that fibronectin binds to C1q (see <a href="/entry/120550">120550</a>) in the same manner that it binds collagen. Because fibronectin stimulates endocytosis and promotes the clearance of particulate material from the circulation, <a href="#2" class="mim-tip-reference" title="Bing, D. H., Almeda, S., Isliker, H., Lahav, J., Hynes, R. O. <strong>Fibronectin binds to the C1q component of complement.</strong> Proc. Nat. Acad. Sci. 79: 4198-4201, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6981115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6981115</a>] [<a href="https://doi.org/10.1073/pnas.79.13.4198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6981115">Bing et al. (1982)</a> suggested that fibronectin functions in the clearance of C1q-coated material such as immune complexes or cellular debris. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6981115" 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="#22" class="mim-tip-reference" title="Matsuura, H., Takio, K., Titani, K., Greene, T., Levery, S. B., Salyan, M. E. K., Hakomori, S. <strong>The oncofetal structure of human fibronectin defined by monoclonal antibody FDC-6.</strong> J. Biol. Chem. 263: 3314-3322, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2449438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2449438</a>]" pmid="2449438">Matsuura et al. (1988)</a> found that a single glycosylation at a defined threonine residue of the IIICS region of fibronectin defines an antigenic epitope recognized by monoclonal antibody FDC-6, which specifically recognizes fibronectin isolated from fetal and malignant cells and tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2449438" 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>Commenting on the use of high-density DNA microarrays in gene expression profiling, <a href="#32" class="mim-tip-reference" title="Ridley, A. <strong>Molecular switches in metastasis.</strong> Nature 406: 466-467, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952292</a>] [<a href="https://doi.org/10.1038/35020170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10952292">Ridley (2000)</a> pointed out that the results of <a href="#5" class="mim-tip-reference" title="Clark, E. A., Golub, T. R., Lander, E. S., Hynes, R. O. <strong>Genomic analysis of metastasis reveals an essential role for RhoC.</strong> Nature 406: 532-535, 2000. Note: Erratum: Nature 411: 974 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952316</a>] [<a href="https://doi.org/10.1038/35020106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10952316">Clark et al. (2000)</a> and <a href="#3" class="mim-tip-reference" title="Bittner, M., Meltzer, P., Chen, Y., Jiang, Y., Seftor, E., Hendrix, M., Radmacher, M., Simon, R., Yakhini, Z., Ben-Dor, A., Sampas, N., Dougherty, E., and 16 others. <strong>Molecular classification of cutaneous malignant melanoma by gene expression profiling.</strong> Nature 406: 536-540, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952317</a>] [<a href="https://doi.org/10.1038/35020115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10952317">Bittner et al. (2000)</a> indicated that fibronectin is required for the metastasis of melanoma cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10952316+10952292+10952317" 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>Alternatively spliced FN1 EDA and EDB are prominently expressed during wound healing, lung, liver and kidney fibrosis, vascular intimal proliferation, and cardiac transplantation. <a href="#20" class="mim-tip-reference" title="Liao, Y.-F., Gotwals, P. J., Koteliansky, V. E., Sheppard, D., Van De Water, L. <strong>The EIIIA segment of fibronectin is a ligand for integrins alpha-9-beta-1 and alpha-4-beta-1 providing a novel mechanism for regulating cell adhesion by alternative splicing.</strong> J. Biol. Chem. 277: 14467-14474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11839764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11839764</a>] [<a href="https://doi.org/10.1074/jbc.M201100200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11839764">Liao et al. (2002)</a> found that the EDA segment of cellular FN1 binds integrins ITGA9 (<a href="/entry/603963">603963</a>)-ITGB1 (<a href="/entry/135630">135630</a>) and ITGA3 (<a href="/entry/605025">605025</a>)-ITGB1 on cells. The findings established a mechanism by which cell adhesion to fibronectin can be regulated by alternative splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11839764" 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="#35" class="mim-tip-reference" title="Sakai, T., Larsen, M., Yamada, K. M. <strong>Fibronectin requirement in branching morphogenesis.</strong> Nature 423: 876-881, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815434</a>] [<a href="https://doi.org/10.1038/nature01712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815434">Sakai et al. (2003)</a> demonstrated that fibronectin is essential for cleft formation during the initiation of epithelial branching in the formation of salivary glands. Fibronectin mRNA and fibrils appeared transiently and focally in forming cleft regions of submandibular salivary gland epithelia, accompanied by an adjacent loss of E cadherin (<a href="/entry/192090">192090</a>) localization. Decreasing fibronectin blocked cleft formation and branching, whereas exogenous fibronectin accelerated it. Similar effects of fibronectin suppression and augmentation were observed in developing lung and kidney. Mechanistic studies revealed that fibrillar fibronectin could induce cell-matrix adhesions on cultured human salivary epithelial cells with a local loss of cadherins at cell-cell junctions. The findings indicated that fibronectin expression is required for branching morphogenesis associated with the conversion of cell-cell adhesions to cell-matrix adhesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Jiang, G., Giannone, G., Critchley, D. R., Fukumoto, E., Sheetz, M. P. <strong>Two-piconewton slip bond between fibronectin and the cytoskeleton depends on talin.</strong> Nature 424: 334-337, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12867986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12867986</a>] [<a href="https://doi.org/10.1038/nature01805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12867986">Jiang et al. (2003)</a> observed that the soluble trimeric, but not monomeric, fibronectin domain FNIII7-10 bound specifically to integrin ITGAV (<a href="/entry/193210">193210</a>)-ITGB3 (<a href="/entry/173470">173470</a>) on the leading edge of migratory cells. Studies using force breakage indicated that the actin-binding protein talin-1 (TLN1; <a href="/entry/186745">186745</a>) initially forms a molecular bond between closely packed fibronectin-integrin complexes and the actin cytoskeleton before the recruitment of other proteins. These mechanical forces on matrix-integrin-cytoskeleton linkages are crucial for cell viability, morphology, and organ function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12867986" 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="#21" class="mim-tip-reference" title="Matsunaga, T., Takemoto, N., Sato, T., Takimoto, R., Tanaka, I., Fujimi, A., Akiyama, T., Kuroda, H., Kawano, Y., Kobune, M., Kato, J., Hirayama, Y., Sakamaki, S., Kohda, K., Miyake, K., Niitsu, Y. <strong>Interaction between leukemic-cell VLA-4 and stromal fibronectin is a decisive factor for minimal residual disease of acute myelogenous leukemia.</strong> Nature Med. 9: 1158-1165, 2003. Note: Erratum: Nature Med. 11: 578 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897778</a>] [<a href="https://doi.org/10.1038/nm909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897778">Matsunaga et al. (2003)</a> found that VLA4 (see <a href="/entry/192975">192975</a>)-positive leukemic cells acquired resistance to anoikis (loss of anchorage) or drug-induced apoptosis through the phosphatidylinositol-3-kinase (see <a href="/entry/601232">601232</a>)/AKT (<a href="/entry/164730">164730</a>)/BCL2 (<a href="/entry/151430">151430</a>) signaling pathway, which is activated by the interaction of VLA4 and fibronectin. This resistance was negated by VLA4-specific antibodies. In a mouse model of minimal residual disease, <a href="#21" class="mim-tip-reference" title="Matsunaga, T., Takemoto, N., Sato, T., Takimoto, R., Tanaka, I., Fujimi, A., Akiyama, T., Kuroda, H., Kawano, Y., Kobune, M., Kato, J., Hirayama, Y., Sakamaki, S., Kohda, K., Miyake, K., Niitsu, Y. <strong>Interaction between leukemic-cell VLA-4 and stromal fibronectin is a decisive factor for minimal residual disease of acute myelogenous leukemia.</strong> Nature Med. 9: 1158-1165, 2003. Note: Erratum: Nature Med. 11: 578 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897778</a>] [<a href="https://doi.org/10.1038/nm909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897778">Matsunaga et al. (2003)</a> achieved a 100% survival rate by combining VLA4-specific antibodies and cytosine arabinoside, whereas cytosine arabinoside alone prolonged survival only slightly. In addition, overall survival at 5 years was 100% for 10 VLA4-negative patients and 44.4% for 15 VLA4-positive patients. <a href="#21" class="mim-tip-reference" title="Matsunaga, T., Takemoto, N., Sato, T., Takimoto, R., Tanaka, I., Fujimi, A., Akiyama, T., Kuroda, H., Kawano, Y., Kobune, M., Kato, J., Hirayama, Y., Sakamaki, S., Kohda, K., Miyake, K., Niitsu, Y. <strong>Interaction between leukemic-cell VLA-4 and stromal fibronectin is a decisive factor for minimal residual disease of acute myelogenous leukemia.</strong> Nature Med. 9: 1158-1165, 2003. Note: Erratum: Nature Med. 11: 578 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897778</a>] [<a href="https://doi.org/10.1038/nm909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897778">Matsunaga et al. (2003)</a> concluded that the interaction between VLA4 on leukemic cells and fibronectin on stromal cells may be crucial in bone marrow minimal residual disease and prognosis in acute myelogenous leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897778" 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 ELISA, <a href="#8" class="mim-tip-reference" title="Grau, S., Richards, P. J., Kerr, B., Hughes, C., Caterson, B., Williams, A. S., Junker, U., Jones, S. A., Clausen, T., Ehrmann, M. <strong>The role of human HtrA1 in arthritic disease.</strong> J. Biol. Chem. 281: 6124-6129, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16377621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16377621</a>] [<a href="https://doi.org/10.1074/jbc.M500361200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16377621">Grau et al. (2006)</a> found that expression of the serine peptidase HTRA1 (<a href="/entry/602194">602194</a>) was upregulated in synovial fluid from both osteoarthritis (OA; see <a href="/entry/165720">165720</a>) and rheumatoid arthritis (RA; see <a href="/entry/180300">180300</a>) patients compared with normal human fluid. HTRA1 was also highly expressed in and secreted by cultured OA and RA synovial fibroblasts, but not by normal human foreskin fibroblasts. Recombinant human HTRA1 lacking its N-terminal domains, representing an autoproteolytically processed form, degraded purified human fibronectin into several fragments. Synovial fibroblasts exposed to these fragments subsequently upregulated mRNA expression and secretion of the matrix metalloproteases MMP1 (<a href="/entry/120353">120353</a>) and MMP3 (<a href="/entry/185250">185250</a>). Inhibition of HTRA1 abrogated fibronectin fragment formation and MMP upregulation. <a href="#8" class="mim-tip-reference" title="Grau, S., Richards, P. J., Kerr, B., Hughes, C., Caterson, B., Williams, A. S., Junker, U., Jones, S. A., Clausen, T., Ehrmann, M. <strong>The role of human HtrA1 in arthritic disease.</strong> J. Biol. Chem. 281: 6124-6129, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16377621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16377621</a>] [<a href="https://doi.org/10.1074/jbc.M500361200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16377621">Grau et al. (2006)</a> concluded that HTRA1 can contribute to destruction of extracellular matrix through both direct and indirect mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16377621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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In affected members of 6 unrelated families with glomerulopathy with fibronectin deposits (GFND2; <a href="/entry/601894">601894</a>), <a href="#4" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> identified 3 heterozygous mutations in the FN1 gene (<a href="#0001">135600.0001</a>-<a href="#0003">135600.0003</a>). Studies of the mutant proteins suggested that GFND-associated mutations in FN1 impair the control of the assembly of FN1 into fibrils and the balance between soluble and insoluble fibronectin. Six (40%) of 15 affected families were found to have FN1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18268355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Spondylometaphyseal Dysplasia, Corner Fracture Type</em></strong></p><p>
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In affected individuals from 7 families with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; <a href="/entry/184255">184255</a>), <a href="#19" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> identified heterozygosity for mutations in the FN1 gene (see, e.g., <a href="#0004">135600.0004</a>-<a href="#0006">135600.0006</a>). None of the SMDCF patients showed any evidence of renal disease. The authors noted that GFND2-associated mutations tend to cluster in more C-terminally located regions, whereas the SMDCF-associated mutations are more N-terminally located. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old girl with SMDCF, <a href="#33" class="mim-tip-reference" title="Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M. <strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong> Clin. Dysmorph. 30: 154-158, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605604</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605604">Sabir et al. (2021)</a> identified a de novo heterozygous missense mutation in the FN1 gene (C225W; <a href="#0007">135600.0007</a>). The mutation was found by trio whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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In clones derived from human-mouse hybrids, <a href="#29" class="mim-tip-reference" title="Owerbach, D., Doyle, D., Shows, T. B. <strong>Genetics of the large, external, transformation-sensitive (LETS) protein: assignment of a gene coding for expression of LETS to human chromosome 8.</strong> Proc. Nat. Acad. Sci. 75: 5640-5644, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/214793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">214793</a>] [<a href="https://doi.org/10.1073/pnas.75.11.5640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="214793">Owerbach et al. (1978)</a> found that LETS segregated with chromosome 8 and with glutathione reductase (GSR; <a href="/entry/138300">138300</a>), which is also located on 8p. <a href="#39" class="mim-tip-reference" title="Smith, M., Gold, L. I., Pearlstein, E., Krinsky, A. <strong>Expression of mouse and human fibronectin in hybrid cells. (Abstract)</strong> Cytogenet. Cell Genet. 25: 205 only, 1979."None>Smith et al. (1979)</a> concluded that chromosomes 3 and 11 are essential to expression of fibronectin. <a href="#7" class="mim-tip-reference" title="Eun, C. K., Klinger, H. P. <strong>Human chromosome 11 affects the expression of fibronectin fibers in human-times-mouse cell hybrids.</strong> Cytogenet. Cell Genet. 27: 57-65, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6156057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6156057</a>] [<a href="https://doi.org/10.1159/000131465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6156057">Eun and Klinger (1980)</a> also found synteny of fibronectin production and chromosome 11. <a href="#18" class="mim-tip-reference" title="Kurkinen, M., Vartio, T., Vaheri, A. <strong>Polypeptides of human plasma fibronectin are similar but not identical.</strong> Biochim. Biophys. Acta 624: 490-498, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6774760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6774760</a>] [<a href="https://doi.org/10.1016/0005-2795(80)90090-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6774760">Kurkinen et al. (1980)</a> postulated that the inconsistencies may reflect the synthesis of different polypeptide chains. Using a specific immunoassay for fibronectin in mouse-human cell hybrids, <a href="#31" class="mim-tip-reference" title="Rennard, S. I., Church, R. L., Rohrbach, D. H., Shupp, D. E., Abe, S., Hewitt, A. T., Murray, J. C., Martin, G. R. <strong>Localization of the human fibronectin (FN) gene on chromosome 8 by a specific enzyme immunoassay.</strong> Biochem. Genet. 19: 551-566, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6794562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6794562</a>] [<a href="https://doi.org/10.1007/BF00484626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6794562">Rennard et al. (1981)</a> found 100% concordance between expression of human fibronectin and glutathione reductase. The authors suggested that a gene on chromosome 8 may control the presence or absence of FN on the cell surface, whereas another gene mapped to chromosome 11 may involve the fibrillar morphology of cellular FN. <a href="#40" class="mim-tip-reference" title="Smith, M., Krinsky, A. M., Arredondo-Vega, F. X., Pearlstein, E. <strong>Production of soluble fibronectin by RAG x human fibroblast hybrids. (Abstract)</strong> Cytogenet. Cell Genet. 32: 318 only, 1982."None>Smith et al. (1982)</a> also concluded that the production of soluble fibronectin was associated with chromosome 11. Clones that contained human chromosome 3 in the absence of chromosome 11 did not produce fibronectin, and 2 clones that did not produce fibronectin were positive for glutathione reductase. They concluded that the structural gene for FN was on chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=214793+6794562+6156057+6774760" 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>To investigate the role of plasma fibronectin in vivo, <a href="#34" class="mim-tip-reference" title="Sakai, T., Johnson, K. J., Murozono, M., Sakai, K., Magnuson, M. A., Wieloch, T., Cronberg, T., Isshiki, A., Erickson, H. P., Fassler, R. <strong>Plasma fibronectin supports neuronal survival and reduces brain injury following transient focal cerebral ischemia but is not essential for skin-wound healing and hemostasis.</strong> Nature Med. 7: 324-330, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231631</a>] [<a href="https://doi.org/10.1038/85471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231631">Sakai et al. (2001)</a> generated plasma fibronectin-deficient adult mice using Cre-loxP conditional gene-knockout technology. <a href="#34" class="mim-tip-reference" title="Sakai, T., Johnson, K. J., Murozono, M., Sakai, K., Magnuson, M. A., Wieloch, T., Cronberg, T., Isshiki, A., Erickson, H. P., Fassler, R. <strong>Plasma fibronectin supports neuronal survival and reduces brain injury following transient focal cerebral ischemia but is not essential for skin-wound healing and hemostasis.</strong> Nature Med. 7: 324-330, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231631</a>] [<a href="https://doi.org/10.1038/85471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231631">Sakai et al. (2001)</a> demonstrated that plasma fibronectin-deficient mice show increased neuronal apoptosis and larger infarction areas following transient focal cerebral ischemia. Surprisingly, plasma fibronectin was not essential for skin wound healing or hemostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231631" 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="#26" class="mim-tip-reference" title="Muro, A. F., Chauhan, A. K., Gajovic, S., Iaconcig, A., Porro, F., Stanta, G., Baralle, F. E. <strong>Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.</strong> J. Cell. Biol. 162: 149-160, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847088</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12847088[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/10.1083/jcb.200212079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12847088">Muro et al. (2003)</a> generated mice with constitutive inclusion or complete exclusion of the EDA exon in the Fn1 gene. Both types of homozygous mice developed normally and were viable. However, those without the EDA exon showed abnormal skin wound healing. Adult mice with constitutive expression of the EDA exon showed a major decrease of Fn1 in all tissues. Both mutant mice had significantly shorter life spans compared to wildtype mice. The findings indicated that EDA splicing regulation is necessary for long-term maintenance of biologic functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12847088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of an Italian family with glomerulopathy with fibronectin deposits (<a href="/entry/601894">601894</a>), <a href="#4" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> identified a heterozygous 5773T-A transversion in exon 36 of the FN1 gene, resulting in a trp1925-to-arg (W1925R) substitution in the III-13 repeat of the HepII heparin-binding domain. The family was first described by <a href="#41" class="mim-tip-reference" title="Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J. <strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong> Kidney Int. 48: 163-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>] [<a href="https://doi.org/10.1038/ki.1995.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564073">Strom et al. (1995)</a>. Clinical features included proteinuria, hypertension, microhematuria, slowly decreasing renal function, and the presence of enlarged glomeruli with fibronectin-positive subendothelial and mesangial deposits on renal biopsy. The deposited fibronectin was mainly plasma-derived. In vitro functional expression studies showed that the mutant protein had decreased binding to heparin and to endothelial cells. <a href="#4" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> hypothesized that abnormal fibronectin could disturb cell spreading and the cytoskeleton in glomerular endothelial cells and podocytes, which would alter glomerular properties and induce abnormal protein trafficking. In addition, mutations in the FN1 gene could alter the balance between soluble and insoluble fibronectin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7564073+18268355" 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">rs137854487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854487;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=rs137854487" 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=rs137854487" 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=RCV000017721" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017721" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017721</a>
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<p>In affected members of a family from New Zealand with glomerulopathy with fibronectin deposits (<a href="/entry/601894">601894</a>), <a href="#4" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> identified a heterozygous 5921T-G transversion in exon 37 of the FN1 gene, resulting in a leu1974-to-arg (L1974R) substitution in the III-13 repeat of the HepII heparin-binding domain. In vitro functional expression studies showed that the mutant protein had decreased binding to heparin and to endothelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18268355" 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">rs137854488 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854488;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=rs137854488" 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=rs137854488" 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=RCV000017722 OR RCV002482881 OR RCV004745163 OR RCV005089267" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017722, RCV002482881, RCV004745163, RCV005089267" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017722...</a>
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<p>In affected members of 4 unrelated families with glomerulopathy with fibronectin deposits (<a href="/entry/601894">601894</a>), <a href="#4" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> identified a heterozygous 2918A-G transition in the FN1 gene, resulting in a tyr973-to-cys (Y983C) substitution in the III-4 repeat in the HepIII heparin-binding domain. Three of the families had previously been reported by <a href="#23" class="mim-tip-reference" title="Mazzucco, G., Maran, E., Rollino, C., Monga, G. <strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong> Hum. Path. 23: 63-68, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544672</a>] [<a href="https://doi.org/10.1016/0046-8177(92)90013-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544672">Mazzucco et al. (1992)</a>, <a href="#1" class="mim-tip-reference" title="Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M. <strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong> Am. J. Kidney Dis. 25: 781-791, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90555-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747733">Assmann et al. (1995)</a>, and <a href="#27" class="mim-tip-reference" title="Niimi, K., Tsuru, N., Uesugi, N., Takebayashi, S. <strong>Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.</strong> Pediat. Nephrol. 17: 363-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12042895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12042895</a>] [<a href="https://doi.org/10.1007/s00467-002-0833-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12042895">Niimi et al. (2002)</a>. The 4 families were of different ethnic origin and did not share a disease haplotype, thus excluding a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1544672+12042895+7747733+18268355" 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 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</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">rs1553669703 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553669703;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=rs1553669703" 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=rs1553669703" 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=RCV000509586 OR RCV000566441" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000509586, RCV000566441" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000509586...</a>
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<p>In a mother and 2 sons (family 1) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; <a href="/entry/184255">184255</a>), originally reported by <a href="#42" class="mim-tip-reference" title="Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W. <strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong> Am. J. Med. Genet. 133A: 209-212, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666313</a>] [<a href="https://doi.org/10.1002/ajmg.a.30567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15666313">Sutton et al. (2005)</a>, <a href="#19" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> identified heterozygosity for a c.260G-T transversion (c.260G-T, NM_212482.2) in the FN1 gene (chr2:g.216,299,436C-A; GRCh37), resulting in a cys87-to-phe (C87F) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-1 in the N-terminal assembly domain. The mutation was not found in the unaffected maternal grandmother or in the ExAC database. Functional analysis in transfected HEK293 cells showed significantly reduced to undetectable secretion of the C87F mutant compared to wildtype, and immunofluorescence analysis demonstrated increased intracellular retention of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29100092+15666313" 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 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</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">rs1553659131 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553659131;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=rs1553659131" 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=rs1553659131" 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=RCV000509587 OR RCV000570760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000509587, RCV000570760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000509587...</a>
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<p>In a mother and daughter (family 4) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; <a href="/entry/184255">184255</a>), <a href="#19" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> identified heterozygosity for a c.718T-G transversion (c.718T-G, NM_212482.2) in the FN1 gene (chr2:g.216,293,029A-C; GRCh37), resulting in a tyr240-to-asp (Y240D) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-5 in the N-terminal assembly domain. The mutation was not found in an unaffected daughter or in the ExAC database. Western blot analysis of conditioned cell-culture medium from transfected HEK293 cells showed significantly reduced to undetectable secretion of the Y240D mutant compared to wildtype, and immunofluorescence analysis demonstrated increased intracellular retention of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100092" 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>.0006 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</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">rs1553667072 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553667072;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=rs1553667072" 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=rs1553667072" 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=RCV000509582 OR RCV000575065 OR RCV002526994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000509582, RCV000575065, RCV002526994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000509582...</a>
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<p>In 14-year-old boy (family 2) and an unrelated 4-year-old girl (family 7) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; <a href="/entry/184255">184255</a>), <a href="#19" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> identified heterozygosity for a c.367T-C transition (c.367T-C, NM_212482.2) in the FN1 gene (chr2:g.216,298,095A-G; GRCh37), resulting in a cys123-to-arg (C123R) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-2 in the N-terminal assembly domain. The mutation occurred de novo in both children, and was not found in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100092" 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>.0007 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</strong>
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FN1, CYS225TRP
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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> rs1181638652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1181638652;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/rs1181638652?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=rs1181638652" 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=rs1181638652" 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=RCV000509585 OR RCV000755737 OR RCV003558392" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000509585, RCV000755737, RCV003558392" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000509585...</a>
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<p>In a 12-year-old girl with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; <a href="/entry/184255">184255</a>), <a href="#33" class="mim-tip-reference" title="Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M. <strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong> Clin. Dysmorph. 30: 154-158, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605604</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605604">Sabir et al. (2021)</a> identified a de novo heterozygous c.675C-G transversion (c.675C-G, NM_212482.2) in the FN1 gene, predicted to result in a cys225-to-trp (C225W) substitution. The mutation was identified by trio whole-genome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605604" 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>See Also:</strong>
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<a href="#Clemmensen1981" class="mim-tip-reference" title="Clemmensen, I. <strong>Fibronectin and its role in connective tissue diseases. (Editorial)</strong> Europ. J. Clin. Invest. 11: 145-146, 1981.">Clemmensen (1981)</a>; <a href="#Hirano1983" class="mim-tip-reference" title="Hirano, H., Yamada, Y., Sullivan, M., de Crombrugghe, B., Pastan, I., Yamada, K. M. <strong>Isolation of genomic DNA clones spanning the entire fibronectin gene.</strong> Proc. Nat. Acad. Sci. 80: 46-50, 1983.">Hirano et al. (1983)</a>; <a href="#McDonagh1981" class="mim-tip-reference" title="McDonagh, J. <strong>Fibronectin: a molecular glue.</strong> Arch. Path. Lab. Med. 105: 393-396, 1981.">McDonagh (1981)</a>; <a href="#Mosesson1980" class="mim-tip-reference" title="Mosesson, M. W., Amrani, D. L. <strong>The structure and biologic activities of plasma fibronectin.</strong> Blood 56: 145-158, 1980.">Mosesson
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and Amrani (1980)</a>; <a href="#Odermatt1985" class="mim-tip-reference" title="Odermatt, E., Tamkun, J. W., Hynes, R. O. <strong>Repeating modular structure of the fibronectin gene: relationship to protein structure and subunit variation.</strong> Proc. Nat. Acad. Sci. 82: 6571-6575, 1985.">Odermatt et al. (1985)</a>; <a href="#Zardi1982" class="mim-tip-reference" title="Zardi, L., Cianfriglia, M., Balza, E., Carnemolla, B., Siri, A., Croce, C. M. <strong>Species-specific monoclonal antibodies in the assignment of the gene for human fibronectin to chromosome 2.</strong> EMBO J. 1: 929-933, 1982.">Zardi et al. (1982)</a>; <a href="#Zardi1979" class="mim-tip-reference" title="Zardi, L., Siri, A., Carnemolla, B., Santi, L., Gardner, W. D., Hoch, S. O. <strong>Fibronectin: a chromatin-associated protein?</strong> Cell 18: 649-657, 1979.">Zardi
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et al. (1979)</a>
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Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M.
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<strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747733" 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/10.1016/0272-6386(95)90555-3" target="_blank">Full Text</a>]
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<a id="Bing1982" class="mim-anchor"></a>
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Bing, D. H., Almeda, S., Isliker, H., Lahav, J., Hynes, R. O.
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<strong>Fibronectin binds to the C1q component of complement.</strong>
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Proc. Nat. Acad. Sci. 79: 4198-4201, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6981115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6981115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6981115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.79.13.4198" target="_blank">Full Text</a>]
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<a id="Bittner2000" class="mim-anchor"></a>
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Bittner, M., Meltzer, P., Chen, Y., Jiang, Y., Seftor, E., Hendrix, M., Radmacher, M., Simon, R., Yakhini, Z., Ben-Dor, A., Sampas, N., Dougherty, E., and 16 others.
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<strong>Molecular classification of cutaneous malignant melanoma by gene expression profiling.</strong>
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Nature 406: 536-540, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10952317" 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/10.1038/35020115" target="_blank">Full Text</a>]
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Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M.
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<strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong>
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Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[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=18268355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank">Full Text</a>]
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Clark, E. A., Golub, T. R., Lander, E. S., Hynes, R. O.
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<strong>Genomic analysis of metastasis reveals an essential role for RhoC.</strong>
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Nature 406: 532-535, 2000. Note: Erratum: Nature 411: 974 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10952316" 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/10.1038/35020106" target="_blank">Full Text</a>]
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<a id="Clemmensen1981" class="mim-anchor"></a>
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Clemmensen, I.
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<strong>Fibronectin and its role in connective tissue diseases. (Editorial)</strong>
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Europ. J. Clin. Invest. 11: 145-146, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6791932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6791932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6791932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2362.1981.tb01831.x" target="_blank">Full Text</a>]
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Eun, C. K., Klinger, H. P.
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<strong>Human chromosome 11 affects the expression of fibronectin fibers in human-times-mouse cell hybrids.</strong>
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Cytogenet. Cell Genet. 27: 57-65, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6156057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6156057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6156057" 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/10.1159/000131465" target="_blank">Full Text</a>]
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Grau, S., Richards, P. J., Kerr, B., Hughes, C., Caterson, B., Williams, A. S., Junker, U., Jones, S. A., Clausen, T., Ehrmann, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16377621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16377621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16377621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M500361200" target="_blank">Full Text</a>]
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Gutman, A., Kornblihtt, A. R.
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<strong>Identification of a third region of cell-specific alternative splicing in human fibronectin mRNA.</strong>
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Proc. Nat. Acad. Sci. 84: 7179-7182, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3478690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3478690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3478690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.84.20.7179" target="_blank">Full Text</a>]
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Henry, I., Jeanpierre, M., Weil, D., Grzeschik, K. H., Ramirez, F., Junien, C.
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<strong>The structural gene for fibronectin (FN) maps to 2q323-qter. (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 650 only, 1985.
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[<a href="https://doi.org/10.1073/pnas.80.1.46" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132195" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature01805" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-4827(82)90217-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1985.tb03847.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.80.11.3218" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1984.tb01787.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2795(80)90090-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2017.09.019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M201100200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nm909" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1083/jcb.200212079" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00467-002-0833-2" target="_blank">Full Text</a>]
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<strong>Regional localization of the fibronectin and gamma crystallin genes to mouse chromosome 1 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 48: 238-241, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3248380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3248380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3248380" 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/10.1159/000132636" 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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Hilary J. Vernon - updated : 09/30/2021
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Marla J. F. O'Neill - updated : 12/28/2017<br>Patricia A. Hartz - updated : 04/08/2014<br>Cassandra L. Kniffin - reorganized : 3/18/2008<br>Cassandra L. Kniffin - updated : 3/12/2008<br>Victor A. McKusick - updated : 5/20/2004<br>Ada Hamosh - updated : 8/26/2003<br>Ada Hamosh - updated : 7/25/2003<br>Ada Hamosh - updated : 7/8/2003<br>Ada Hamosh - updated : 5/9/2003<br>Ada Hamosh - updated : 4/4/2001<br>Ada Hamosh - updated : 8/2/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 04/18/2022
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carol : 10/01/2021<br>carol : 09/30/2021<br>alopez : 12/28/2017<br>mgross : 04/08/2014<br>carol : 1/4/2013<br>terry : 8/8/2012<br>carol : 11/22/2011<br>carol : 7/19/2011<br>terry : 4/29/2009<br>carol : 3/18/2008<br>ckniffin : 3/12/2008<br>mgross : 5/17/2005<br>mgross : 5/17/2005<br>joanna : 2/4/2005<br>tkritzer : 5/20/2004<br>alopez : 9/2/2003<br>alopez : 8/26/2003<br>terry : 8/26/2003<br>tkritzer : 7/25/2003<br>tkritzer : 7/25/2003<br>tkritzer : 7/25/2003<br>alopez : 7/9/2003<br>terry : 7/8/2003<br>alopez : 5/9/2003<br>terry : 5/9/2003<br>carol : 1/8/2002<br>alopez : 4/5/2001<br>terry : 4/4/2001<br>alopez : 8/2/2000<br>terry : 4/30/1999<br>terry : 6/5/1998<br>mark : 3/18/1997<br>warfield : 4/8/1994<br>pfoster : 4/1/1994<br>carol : 5/26/1993<br>supermim : 3/16/1992<br>carol : 3/4/1992<br>carol : 8/15/1990
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<span class="mim-font">
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<strong>*</strong> 135600
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<h3>
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FIBRONECTIN 1; FN1
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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FN<br />
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LARGE, EXTERNAL, TRANSFORMATION-SENSITIVE PROTEIN; LETS
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FN1</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 254078005, 722759007;
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Cytogenetic location: 2q35
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:215,360,865-215,436,068 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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2q35
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<span class="mim-font">
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Glomerulopathy with fibronectin deposits 2
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<span class="mim-font">
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601894
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Autosomal dominant
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<span class="mim-font">
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3
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Spondylometaphyseal dysplasia, corner fracture type
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<span class="mim-font">
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184255
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Fibronectin-1 belongs to a family of high molecular weight glycoproteins that are present on cell surfaces, in extracellular fluids, connective tissues, and basement membranes. Fibronectins interact with other extracellular matrix proteins and cellular ligands, such as collagen, fibrin, and integrins. Fibronectins are involved in adhesive and migratory processes of cells. Two major forms of fibronectin exist: a plasma soluble form and a cellular form (summary by Muro et al., 2003). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Kornblihtt et al. (1983) isolated clones corresponding to the human fibronectin gene from a human carcinoma cDNA library. The sequence showed approximately 90% homology to the bovine sequence. Fibronectin mRNA was estimated to be 7.9 kb. The data suggested that fibronectin is coded by a single gene and that the cellular and plasma proteins arise from post-transcriptional events. </p><p>Kornblihtt et al. (1984) identified 2 different fibronectin cDNA clones and corresponding mRNAs that differed by the presence or absence of a 270-bp internal fragment (termed ED for 'extra domain,' EDA, or EDIIIA) that encodes a 90-residue domain of type III homology found in the bovine protein. This 90-residue fragment is in the C terminus between the cell attachment and heparin-binding domains of the protein. Human liver produced mainly the form without the internal fragment. </p><p>Kornblihtt et al. (1985) determined that the fibronectin gene encodes a polypeptide of 2,146 to 2,325 residues, depending on which internal splicing has taken place. The primary structure of the protein contains several internal homologous regions, reflecting high complexity. Different motifs showed specific binding domains for fibrin, heparin, collagen, and DNA. </p><p>Sekiguchi et al. (1986) also found that liver fibronectin cDNAs lacked the ED segment that is present in most cDNAs encoding cellular fibronectin. Furthermore, 2 liver cDNAs differed in sequence at the 'type III connecting segment' (IIICS) region by the presence or absence of 192 bp with flanking regions. Cellular FN1 cDNAs contained the 192-base IIICS region. Thus, cellular fibronectin appears to have extra peptide segments, encoded by the IIICS region and its flanking segments as well as the 270-base ED region, that are mostly absent in liver fibronectin. </p><p>Gutman and Kornblihtt (1987) described a third region of variability in human fibronectin in addition to the EDA and IIICS regions. This third region resembles the EDA and consists of a 273-nucleotide exon (termed 'EDII,' EDB, or EDIIIB) encoding exactly one 91-amino acid repeat of type III homology located between the DNA- and the cell-binding domains of FN. The 2 corresponding mRNA variants were present in cells known to synthesize the cellular form of FN. Liver cells, which are the source of plasma FN, produced only messengers without the EDB. Gutman and Kornblihtt (1987) concluded that both the EDA and EDB sequences are restricted to cellular FN. Combination of all the possible patterns of splicing in the 3 regions described could theoretically generate as many as 20 distinct FN polypeptides from a single gene. </p>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using human-mouse somatic cell hybrids, Koch et al. (1982) mapped the FN1 gene to chromosome 2, and Prowse et al. (1986) confirmed this assignment with a cDNA probe applied to somatic cell hybrids. Henry et al. (1985) assigned FN1 to 2q23.2-qter with a genomic probe in somatic cell hybrids with rearranged human chromosomes. Wu et al. (1993) mapped FN1 to 2q34 by fluorescence in situ hybridization. </p><p>Skow et al. (1987) mapped the mouse Fn1 gene to the midregion of chromosome 1, about 4 cM distal to the Cryg locus (123660). The mapping was done by study of recombinant inbred strains of mice and a RFLP identified with a cDNA for human fibronectin. Zneimer and Womack (1988) mapped fibronectin to mouse chromosome 1 by in situ hybridization. </p><p><strong><em>Pseudogene</em></strong></p><p>
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In meiotic chromosomes, Jhanwar et al. (1986) observed 2 sites of FN hybridization on chromosome 2, 2p16-p14 and 2q34-q36, and 1 on chromosome 11, 11q12.1-q13.5. Only the chromosome 2 sites showed hybridization in somatic cells. The authors suggested that 1 of the 2 sites on chromosome 2 might represent a pseudogene. </p>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By NMR spectroscopy, Schwarz-Linek et al. (2003) determined the structure of a streptococcal (S. dysgalactiae) fibronectin-binding protein peptide (B3) in complex with the module pair (1)F1(2)F1 of human fibronectin. This identified the (1)F1- and (2)F1-binding motifs in B3 that form additional antiparallel beta-strands on sequential F1 modules--the first example of a tandem beta-zipper. Sequence analyses of larger regions of the fibronectin-binding proteins from S. pyogenes and S. aureus revealed a repeating pattern of F1-binding motifs that match the pattern of F1 modules in the N-terminal bacterium-binding site of fibronectin. Schwarz-Linek et al. (2003) concluded that in the process of fibronectin-mediated invasion of host cells, the bacterial proteins seem to exploit the modular structure of fibronectin by forming extended tandem beta-zippers. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>A major function of the fibronectins is in the adhesion of cells to extracellular materials such as solid substrata and matrices. Bing et al. (1982) showed that fibronectin binds to C1q (see 120550) in the same manner that it binds collagen. Because fibronectin stimulates endocytosis and promotes the clearance of particulate material from the circulation, Bing et al. (1982) suggested that fibronectin functions in the clearance of C1q-coated material such as immune complexes or cellular debris. </p><p>Matsuura et al. (1988) found that a single glycosylation at a defined threonine residue of the IIICS region of fibronectin defines an antigenic epitope recognized by monoclonal antibody FDC-6, which specifically recognizes fibronectin isolated from fetal and malignant cells and tissues. </p><p>Commenting on the use of high-density DNA microarrays in gene expression profiling, Ridley (2000) pointed out that the results of Clark et al. (2000) and Bittner et al. (2000) indicated that fibronectin is required for the metastasis of melanoma cells. </p><p>Alternatively spliced FN1 EDA and EDB are prominently expressed during wound healing, lung, liver and kidney fibrosis, vascular intimal proliferation, and cardiac transplantation. Liao et al. (2002) found that the EDA segment of cellular FN1 binds integrins ITGA9 (603963)-ITGB1 (135630) and ITGA3 (605025)-ITGB1 on cells. The findings established a mechanism by which cell adhesion to fibronectin can be regulated by alternative splicing. </p><p>Sakai et al. (2003) demonstrated that fibronectin is essential for cleft formation during the initiation of epithelial branching in the formation of salivary glands. Fibronectin mRNA and fibrils appeared transiently and focally in forming cleft regions of submandibular salivary gland epithelia, accompanied by an adjacent loss of E cadherin (192090) localization. Decreasing fibronectin blocked cleft formation and branching, whereas exogenous fibronectin accelerated it. Similar effects of fibronectin suppression and augmentation were observed in developing lung and kidney. Mechanistic studies revealed that fibrillar fibronectin could induce cell-matrix adhesions on cultured human salivary epithelial cells with a local loss of cadherins at cell-cell junctions. The findings indicated that fibronectin expression is required for branching morphogenesis associated with the conversion of cell-cell adhesions to cell-matrix adhesions. </p><p>Jiang et al. (2003) observed that the soluble trimeric, but not monomeric, fibronectin domain FNIII7-10 bound specifically to integrin ITGAV (193210)-ITGB3 (173470) on the leading edge of migratory cells. Studies using force breakage indicated that the actin-binding protein talin-1 (TLN1; 186745) initially forms a molecular bond between closely packed fibronectin-integrin complexes and the actin cytoskeleton before the recruitment of other proteins. These mechanical forces on matrix-integrin-cytoskeleton linkages are crucial for cell viability, morphology, and organ function. </p><p>Matsunaga et al. (2003) found that VLA4 (see 192975)-positive leukemic cells acquired resistance to anoikis (loss of anchorage) or drug-induced apoptosis through the phosphatidylinositol-3-kinase (see 601232)/AKT (164730)/BCL2 (151430) signaling pathway, which is activated by the interaction of VLA4 and fibronectin. This resistance was negated by VLA4-specific antibodies. In a mouse model of minimal residual disease, Matsunaga et al. (2003) achieved a 100% survival rate by combining VLA4-specific antibodies and cytosine arabinoside, whereas cytosine arabinoside alone prolonged survival only slightly. In addition, overall survival at 5 years was 100% for 10 VLA4-negative patients and 44.4% for 15 VLA4-positive patients. Matsunaga et al. (2003) concluded that the interaction between VLA4 on leukemic cells and fibronectin on stromal cells may be crucial in bone marrow minimal residual disease and prognosis in acute myelogenous leukemia. </p><p>Using ELISA, Grau et al. (2006) found that expression of the serine peptidase HTRA1 (602194) was upregulated in synovial fluid from both osteoarthritis (OA; see 165720) and rheumatoid arthritis (RA; see 180300) patients compared with normal human fluid. HTRA1 was also highly expressed in and secreted by cultured OA and RA synovial fibroblasts, but not by normal human foreskin fibroblasts. Recombinant human HTRA1 lacking its N-terminal domains, representing an autoproteolytically processed form, degraded purified human fibronectin into several fragments. Synovial fibroblasts exposed to these fragments subsequently upregulated mRNA expression and secretion of the matrix metalloproteases MMP1 (120353) and MMP3 (185250). Inhibition of HTRA1 abrogated fibronectin fragment formation and MMP upregulation. Grau et al. (2006) concluded that HTRA1 can contribute to destruction of extracellular matrix through both direct and indirect mechanisms. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Glomerulopathy with Fibronectin Deposits 2</em></strong></p><p>
|
|
In affected members of 6 unrelated families with glomerulopathy with fibronectin deposits (GFND2; 601894), Castelletti et al. (2008) identified 3 heterozygous mutations in the FN1 gene (135600.0001-135600.0003). Studies of the mutant proteins suggested that GFND-associated mutations in FN1 impair the control of the assembly of FN1 into fibrils and the balance between soluble and insoluble fibronectin. Six (40%) of 15 affected families were found to have FN1 mutations. </p><p><strong><em>Spondylometaphyseal Dysplasia, Corner Fracture Type</em></strong></p><p>
|
|
In affected individuals from 7 families with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; 184255), Lee et al. (2017) identified heterozygosity for mutations in the FN1 gene (see, e.g., 135600.0004-135600.0006). None of the SMDCF patients showed any evidence of renal disease. The authors noted that GFND2-associated mutations tend to cluster in more C-terminally located regions, whereas the SMDCF-associated mutations are more N-terminally located. </p><p>In a 12-year-old girl with SMDCF, Sabir et al. (2021) identified a de novo heterozygous missense mutation in the FN1 gene (C225W; 135600.0007). The mutation was found by trio whole-exome sequencing. Functional studies were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Early Mapping Studies</em></strong></p><p>
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In clones derived from human-mouse hybrids, Owerbach et al. (1978) found that LETS segregated with chromosome 8 and with glutathione reductase (GSR; 138300), which is also located on 8p. Smith et al. (1979) concluded that chromosomes 3 and 11 are essential to expression of fibronectin. Eun and Klinger (1980) also found synteny of fibronectin production and chromosome 11. Kurkinen et al. (1980) postulated that the inconsistencies may reflect the synthesis of different polypeptide chains. Using a specific immunoassay for fibronectin in mouse-human cell hybrids, Rennard et al. (1981) found 100% concordance between expression of human fibronectin and glutathione reductase. The authors suggested that a gene on chromosome 8 may control the presence or absence of FN on the cell surface, whereas another gene mapped to chromosome 11 may involve the fibrillar morphology of cellular FN. Smith et al. (1982) also concluded that the production of soluble fibronectin was associated with chromosome 11. Clones that contained human chromosome 3 in the absence of chromosome 11 did not produce fibronectin, and 2 clones that did not produce fibronectin were positive for glutathione reductase. They concluded that the structural gene for FN was on chromosome 11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To investigate the role of plasma fibronectin in vivo, Sakai et al. (2001) generated plasma fibronectin-deficient adult mice using Cre-loxP conditional gene-knockout technology. Sakai et al. (2001) demonstrated that plasma fibronectin-deficient mice show increased neuronal apoptosis and larger infarction areas following transient focal cerebral ischemia. Surprisingly, plasma fibronectin was not essential for skin wound healing or hemostasis. </p><p>Muro et al. (2003) generated mice with constitutive inclusion or complete exclusion of the EDA exon in the Fn1 gene. Both types of homozygous mice developed normally and were viable. However, those without the EDA exon showed abnormal skin wound healing. Adult mice with constitutive expression of the EDA exon showed a major decrease of Fn1 in all tissues. Both mutant mice had significantly shorter life spans compared to wildtype mice. The findings indicated that EDA splicing regulation is necessary for long-term maintenance of biologic functions. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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FN1, TRP1925ARG
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<br />
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SNP: rs137854486,
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ClinVar: RCV000017720
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In affected members of an Italian family with glomerulopathy with fibronectin deposits (601894), Castelletti et al. (2008) identified a heterozygous 5773T-A transversion in exon 36 of the FN1 gene, resulting in a trp1925-to-arg (W1925R) substitution in the III-13 repeat of the HepII heparin-binding domain. The family was first described by Strom et al. (1995). Clinical features included proteinuria, hypertension, microhematuria, slowly decreasing renal function, and the presence of enlarged glomeruli with fibronectin-positive subendothelial and mesangial deposits on renal biopsy. The deposited fibronectin was mainly plasma-derived. In vitro functional expression studies showed that the mutant protein had decreased binding to heparin and to endothelial cells. Castelletti et al. (2008) hypothesized that abnormal fibronectin could disturb cell spreading and the cytoskeleton in glomerular endothelial cells and podocytes, which would alter glomerular properties and induce abnormal protein trafficking. In addition, mutations in the FN1 gene could alter the balance between soluble and insoluble fibronectin. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FN1, LEU1974ARG
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<br />
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SNP: rs137854487,
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|
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ClinVar: RCV000017721
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family from New Zealand with glomerulopathy with fibronectin deposits (601894), Castelletti et al. (2008) identified a heterozygous 5921T-G transversion in exon 37 of the FN1 gene, resulting in a leu1974-to-arg (L1974R) substitution in the III-13 repeat of the HepII heparin-binding domain. In vitro functional expression studies showed that the mutant protein had decreased binding to heparin and to endothelial cells. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
FN1, TYR983CYS
|
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|
|
<br />
|
|
|
|
SNP: rs137854488,
|
|
|
|
|
|
|
|
ClinVar: RCV000017722, RCV002482881, RCV004745163, RCV005089267
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 4 unrelated families with glomerulopathy with fibronectin deposits (601894), Castelletti et al. (2008) identified a heterozygous 2918A-G transition in the FN1 gene, resulting in a tyr973-to-cys (Y983C) substitution in the III-4 repeat in the HepIII heparin-binding domain. Three of the families had previously been reported by Mazzucco et al. (1992), Assmann et al. (1995), and Niimi et al. (2002). The 4 families were of different ethnic origin and did not share a disease haplotype, thus excluding a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FN1, CYS87PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553669703,
|
|
|
|
|
|
|
|
ClinVar: RCV000509586, RCV000566441
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and 2 sons (family 1) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; 184255), originally reported by Sutton et al. (2005), Lee et al. (2017) identified heterozygosity for a c.260G-T transversion (c.260G-T, NM_212482.2) in the FN1 gene (chr2:g.216,299,436C-A; GRCh37), resulting in a cys87-to-phe (C87F) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-1 in the N-terminal assembly domain. The mutation was not found in the unaffected maternal grandmother or in the ExAC database. Functional analysis in transfected HEK293 cells showed significantly reduced to undetectable secretion of the C87F mutant compared to wildtype, and immunofluorescence analysis demonstrated increased intracellular retention of the mutant protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FN1, TYR240ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553659131,
|
|
|
|
|
|
|
|
ClinVar: RCV000509587, RCV000570760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and daughter (family 4) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; 184255), Lee et al. (2017) identified heterozygosity for a c.718T-G transversion (c.718T-G, NM_212482.2) in the FN1 gene (chr2:g.216,293,029A-C; GRCh37), resulting in a tyr240-to-asp (Y240D) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-5 in the N-terminal assembly domain. The mutation was not found in an unaffected daughter or in the ExAC database. Western blot analysis of conditioned cell-culture medium from transfected HEK293 cells showed significantly reduced to undetectable secretion of the Y240D mutant compared to wildtype, and immunofluorescence analysis demonstrated increased intracellular retention of the mutant protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FN1, CYS123ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553667072,
|
|
|
|
|
|
|
|
ClinVar: RCV000509582, RCV000575065, RCV002526994
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 14-year-old boy (family 2) and an unrelated 4-year-old girl (family 7) with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; 184255), Lee et al. (2017) identified heterozygosity for a c.367T-C transition (c.367T-C, NM_212482.2) in the FN1 gene (chr2:g.216,298,095A-G; GRCh37), resulting in a cys123-to-arg (C123R) substitution at a highly conserved residue involved in a disulfide bond within fibronectin domain I-2 in the N-terminal assembly domain. The mutation occurred de novo in both children, and was not found in the ExAC database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FN1, CYS225TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1181638652,
|
|
|
|
|
|
gnomAD: rs1181638652,
|
|
|
|
|
|
ClinVar: RCV000509585, RCV000755737, RCV003558392
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old girl with the corner fracture type of spondylometaphyseal dysplasia (SMDCF; 184255), Sabir et al. (2021) identified a de novo heterozygous c.675C-G transversion (c.675C-G, NM_212482.2) in the FN1 gene, predicted to result in a cys225-to-trp (C225W) substitution. The mutation was identified by trio whole-genome sequencing. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Clemmensen (1981); Hirano et al. (1983); McDonagh (1981); Mosesson
|
|
and Amrani (1980); Odermatt et al. (1985); Zardi et al. (1982); Zardi
|
|
et al. (1979)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M.
|
|
<strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong>
|
|
Am. J. Kidney Dis. 25: 781-791, 1995.
|
|
|
|
|
|
[PubMed: 7747733]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0272-6386(95)90555-3]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bing, D. H., Almeda, S., Isliker, H., Lahav, J., Hynes, R. O.
|
|
<strong>Fibronectin binds to the C1q component of complement.</strong>
|
|
Proc. Nat. Acad. Sci. 79: 4198-4201, 1982.
|
|
|
|
|
|
[PubMed: 6981115]
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|
|
[Full Text: https://doi.org/10.1073/pnas.79.13.4198]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bittner, M., Meltzer, P., Chen, Y., Jiang, Y., Seftor, E., Hendrix, M., Radmacher, M., Simon, R., Yakhini, Z., Ben-Dor, A., Sampas, N., Dougherty, E., and 16 others.
|
|
<strong>Molecular classification of cutaneous malignant melanoma by gene expression profiling.</strong>
|
|
Nature 406: 536-540, 2000.
|
|
|
|
|
|
[PubMed: 10952317]
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|
|
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|
|
[Full Text: https://doi.org/10.1038/35020115]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M.
|
|
<strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.
|
|
|
|
|
|
[PubMed: 18268355]
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|
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|
|
[Full Text: https://doi.org/10.1073/pnas.0707730105]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clark, E. A., Golub, T. R., Lander, E. S., Hynes, R. O.
|
|
<strong>Genomic analysis of metastasis reveals an essential role for RhoC.</strong>
|
|
Nature 406: 532-535, 2000. Note: Erratum: Nature 411: 974 only, 2001.
|
|
|
|
|
|
[PubMed: 10952316]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/35020106]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clemmensen, I.
|
|
<strong>Fibronectin and its role in connective tissue diseases. (Editorial)</strong>
|
|
Europ. J. Clin. Invest. 11: 145-146, 1981.
|
|
|
|
|
|
[PubMed: 6791932]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2362.1981.tb01831.x]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eun, C. K., Klinger, H. P.
|
|
<strong>Human chromosome 11 affects the expression of fibronectin fibers in human-times-mouse cell hybrids.</strong>
|
|
Cytogenet. Cell Genet. 27: 57-65, 1980.
|
|
|
|
|
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[PubMed: 6156057]
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Wu, B.-L., Milunsky, A., Wyandt, H., Hoth, C., Baldwin, C., Skare, J.
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<strong>In situ hybridization applied to Waardenburg syndrome.</strong>
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Cytogenet. Cell Genet. 63: 29-32, 1993.
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[PubMed: 8449034]
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[Full Text: https://doi.org/10.1159/000133495]
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Zardi, L., Cianfriglia, M., Balza, E., Carnemolla, B., Siri, A., Croce, C. M.
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<strong>Species-specific monoclonal antibodies in the assignment of the gene for human fibronectin to chromosome 2.</strong>
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EMBO J. 1: 929-933, 1982.
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[PubMed: 7188364]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1982.tb01273.x]
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Zardi, L., Siri, A., Carnemolla, B., Santi, L., Gardner, W. D., Hoch, S. O.
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<strong>Fibronectin: a chromatin-associated protein?</strong>
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Cell 18: 649-657, 1979.
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[PubMed: 519752]
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[Full Text: https://doi.org/10.1016/0092-8674(79)90120-x]
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Zneimer, S. M., Womack, J. E.
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<strong>Regional localization of the fibronectin and gamma crystallin genes to mouse chromosome 1 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 48: 238-241, 1988.
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[PubMed: 3248380]
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[Full Text: https://doi.org/10.1159/000132636]
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Hilary J. Vernon - updated : 09/30/2021<br>Marla J. F. O'Neill - updated : 12/28/2017<br>Patricia A. Hartz - updated : 04/08/2014<br>Cassandra L. Kniffin - reorganized : 3/18/2008<br>Cassandra L. Kniffin - updated : 3/12/2008<br>Victor A. McKusick - updated : 5/20/2004<br>Ada Hamosh - updated : 8/26/2003<br>Ada Hamosh - updated : 7/25/2003<br>Ada Hamosh - updated : 7/8/2003<br>Ada Hamosh - updated : 5/9/2003<br>Ada Hamosh - updated : 4/4/2001<br>Ada Hamosh - updated : 8/2/2000
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Victor A. McKusick : 6/4/1986
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