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Article

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

Journal of medical genetics - 1 Aug 2003

Lee Y J, Park D, Kim S Y, Park W J

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12920079
DOI: 10.1136/jmg.40.8.629
PMCID: PMC1735556

Genes

TMPRSS3

Provenance

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Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.PMID 12920079Read ↗

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.Semantic proximity Read ↗

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Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.Semantic proximity Read ↗

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.Semantic proximity Read ↗

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.Semantic proximity Read ↗

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.Semantic proximity Read ↗

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.Semantic proximity Read ↗

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].Semantic proximity Read ↗

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.Semantic proximity Read ↗

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Semantic proximity Read ↗

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