| pubmed-article:10196713 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C1384666 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C1514562 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C1883221 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C1883204 | lld:lifeskim |
| pubmed-article:10196713 | lifeskim:mentions | umls-concept:C1880389 | lld:lifeskim |
| pubmed-article:10196713 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:10196713 | pubmed:dateCreated | 1999-6-15 | lld:pubmed |
| pubmed-article:10196713 | pubmed:abstractText | A gene responsible for autosomal dominant non-syndromic hearing impairment in two families (DFNA8 and DFNA12) has recently been identified as TECTA encoding alpha-tectorin, a major component of the tectorial membrane. In these families, missense mutations within the zona pellucida domain of alpha-tectorin were associated with stable severe mid-frequency hearing loss. The present study reports linkage to DFNA12 in a new family with autosomal dominant high frequency hearing loss progressing from mild to moderate severity. The candidate region refined to 3.8 cM still contained the TECTA gene. A missense mutation (C1619S) was identified in the zonadhesin-like domain. This mutation abolishes the first of the vicinal cysteines (1619Cys-Gly-Leu- 1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat. These results further support the involvement of TECTA mutations in autosomal dominant hearing impairment, and suggest that vicinal cysteines are involved in tectorial membrane matrix assembly. | lld:pubmed |
| pubmed-article:10196713 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10196713 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10196713 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10196713 | pubmed:issn | 1018-4813 | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:MullerPP | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:GodetJJ | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:PlauchuHH | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:Van CampGG | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:ColletLL | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:Lina-GranadeG... | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:AlloisioNN | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:MorléLL | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:VerhoevenKK | lld:pubmed |
| pubmed-article:10196713 | pubmed:author | pubmed-author:BozonMM | lld:pubmed |
| pubmed-article:10196713 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10196713 | pubmed:volume | 7 | lld:pubmed |
| pubmed-article:10196713 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10196713 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10196713 | pubmed:pagination | 255-8 | lld:pubmed |
| pubmed-article:10196713 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:meshHeading | pubmed-meshheading:10196713... | lld:pubmed |
| pubmed-article:10196713 | pubmed:articleTitle | Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss. | lld:pubmed |
| pubmed-article:10196713 | pubmed:affiliation | Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard-Lyon I, Villeurbanne, France. alloisio@univ-lyon1.fr | lld:pubmed |
| pubmed-article:10196713 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10196713 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:7007 | entrezgene:pubmed | pubmed-article:10196713 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10196713 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10196713 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10196713 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10196713 | lld:pubmed |
