A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
about
Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear.A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlationThree deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membraneA novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.Biophysical mechanisms underlying outer hair cell loss associated with a shortened tectorial membrane.The PLAC1-homology region of the ZP domain is sufficient for protein polymerisation.Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis.Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian familyScreening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyDFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingCharacterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
P2860
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P2860
A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A cysteine substitution in the ...... aring loss in a Spanish family
@ast
A cysteine substitution in the ...... aring loss in a Spanish family
@en
A cysteine substitution in the ...... aring loss in a Spanish family
@nl
type
label
A cysteine substitution in the ...... aring loss in a Spanish family
@ast
A cysteine substitution in the ...... aring loss in a Spanish family
@en
A cysteine substitution in the ...... aring loss in a Spanish family
@nl
prefLabel
A cysteine substitution in the ...... aring loss in a Spanish family
@ast
A cysteine substitution in the ...... aring loss in a Spanish family
@en
A cysteine substitution in the ...... aring loss in a Spanish family
@nl
P2093
P356
P1476
A cysteine substitution in the ...... aring loss in a Spanish family
@en
P2093
F J Hernández-Calvín
I del Castillo
M A Moreno-Pelayo
M Villamar
P356
10.1136/JMG.38.5.E13
P407
P577
2001-05-01T00:00:00Z