The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanCell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteinsAutosomal recessive nonsyndromic deafness genes: a reviewAutosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsThe epidermal barrier function is dependent on the serine protease CAP1/Prss8The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsPCSK6-mediated corin activation is essential for normal blood pressureSelective regulation of acid-sensing ion channel 1 by serine proteasesActivation of the epithelial sodium channel (ENaC) by the alkaline protease from Pseudomonas aeruginosaTmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice.Directed Differentiation of Human Embryonic Stem Cells Toward Placode-Derived Spiral Ganglion-Like Sensory Neurons.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesisDeafness mutation mining using regular expression based pattern matching.Defining the extended substrate specificity of kallikrein 1-related peptidases.Sex and age result in differential regulation of the renal thiazide-sensitive NaCl cotransporter and the epithelial sodium channel in angiotensin II-infused miceMembrane-anchored serine proteases in vertebrate cell and developmental biologyPhenotypic analysis of mice lacking the Tmprss2-encoded proteaseProstasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line.Endogenous expression of matriptase in neural progenitor cells promotes cell migration and neuron differentiation.Activation of the epithelial sodium channel by the metalloprotease meprin β subunit.Corin variant associated with hypertension and cardiac hypertrophy exhibits impaired zymogen activation and natriuretic peptide processing activityFunctional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.The genetic and molecular bases of monogenic disorders affecting proteolytic systems.Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsLow expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survivalENaCs and ASICs as therapeutic targets.Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.A new look at electrolyte transport in the distal tubuleAlveolar epithelial ion and fluid transport: recent progress.Regulation of the epithelial Na+ channel by peptidases.The cutting edge: membrane-anchored serine protease activities in the pericellular microenvironment.A matriptase-prostasin reciprocal zymogen activation complex with unique features: prostasin as a non-enzymatic co-factor for matriptase activation.Membrane-anchored serine proteases in health and disease.Stria vascularis and vestibular dark cells: characterisation of main structures responsible for inner-ear homeostasis, and their pathophysiological relations.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Regulation of sodium transport in the inner ear.The function and regulation of acid-sensing ion channels (ASICs) and the epithelial Na(+) channel (ENaC): IUPHAR Review 19.
P2860
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P2860
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
description
2002 nî lūn-bûn
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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@ast
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en-gb
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@nl
type
label
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@ast
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en-gb
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@nl
prefLabel
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@ast
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en-gb
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@nl
P2093
P921
P356
P1476
The transmembrane serine prote ...... sodium channel (ENaC) in vitro
@en
P2093
Bernard C Rossier
Colette Rossier
Edith Hummler
Elizabeth Guida
Grégoire Vuagniaux
Hamish S Scott
Karine Buchet
Kazunori Shibuya
Loretta Dougherty
P304
P356
10.1093/HMG/11.23.2829
P407
P577
2002-11-01T00:00:00Z