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
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 in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.
Wong SH et al.
International Journal of Molecular Sciences, 2020
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
Sang S et al.
Frontiers in Genetics, 2019
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
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
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
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
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Hutchin T et al.
Clinical Genetics, 2005
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM et al.
Bmc Medical Genetics, 2004
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M et al.
Human Molecular Genetics, 2002
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S et al.
Human Mutation, 2001
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0