Associated Papers
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
Rezaie N et al.
Bmc Medical Genomics, 2024
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM et al.
Human Genetics, 2024
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E et al.
Audiology & Neuro-otology, 2023
Crystal structure of inhibitor-bound human MSPL that can activate high pathogenic avian influenza.
Ohno A et al.
Life Science Alliance, 2021
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS et al.
Frontiers in Genetics, 2021
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
Gao X et al.
Biomed Research International, 2017
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X et al.
Neural Plasticity, 2017
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J et al.
Journal of Molecular Medicine (berlin, Germany), 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S et al.
Plos One, 2014
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Lee K et al.
Clinical Genetics, 2012
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
Guipponi M et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Elbracht M et al.
Journal of Medical Genetics, 2007
Activation of epithelial sodium channels by mouse channel activating proteases (mCAP) expressed in Xenopus oocytes requires catalytic activity of mCAP3 and mCAP2 but not mCAP1.
Andreasen D et al.
Journal of the American Society of Nephrology : Jasn, 2006
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M et al.
Human Genetics, 2005