Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
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
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.
Silvestri L et al.
Blood, 2009
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
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