Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
about
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanMouse DESC1 is located within a cluster of seven DESC1-like genes and encodes a type II transmembrane serine protease that forms serpin inhibitory complexesMice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Differential expression of genes within the cochlea as defined by a custom mouse inner ear microarray.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screenMembrane-anchored serine proteases in vertebrate cell and developmental biologyExpression and genetic loss of function analysis of the HAT/DESC cluster proteases TMPRSS11A and HATPhenotypic analysis of mice lacking the Tmprss2-encoded proteaseGenotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNovel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.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.Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti.The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.
P2860
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P2860
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
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2001 nî lūn-bûn
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2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
@zh-hant
2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@ast
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@en
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@nl
type
label
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@ast
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@en
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@nl
prefLabel
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@ast
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@en
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@nl
P2093
P356
P1476
Novel mutations of TMPRSS3 in ...... l autosomal recessive deafness
@en
P2093
B Bonne-Tamir
E R Wilcox
M Wattenhofer
R J Morell
S E Antonarakis
P304
P356
10.1136/JMG.38.6.396
P407
P577
2001-06-01T00:00:00Z