Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
about
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanTmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Prostasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line.Functional variants at the 21q22.3 locus involved in breast cancer progression identified by screening of genome-wide estrogen response elements.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainIllumina sequencing of 15 deafness genes using fragmented amplicons.Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNovel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Regulation of the epithelial Na+ channel by peptidases.The cutting edge: membrane-anchored serine protease activities in the pericellular microenvironment.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti.TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.No evidence of hearing loss in pseudohypoaldosteronism type 1 patients.In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function
P2860
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P2860
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@ast
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@en
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@nl
type
label
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@ast
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@en
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@nl
prefLabel
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@ast
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@en
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@nl
P2093
P356
P1476
Pathogenic mutations but not p ...... roteolytic activity of TMPRSS3
@en
P2093
P304
P356
10.1136/JMG.40.8.629
P407
P577
2003-08-01T00:00:00Z