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

Human Molecular Genetics

Volumn 11, Issue 23, 2002, Pages 2829-2836

  Guipponi, Michel ^a,d   Vuagniaux, Grégoire ^b   Wattenhofer, Marie ^a   Shibuya, Kazunori ^c   Vazquez, Maria ^a   Dougherty, Loretta ^d   Scamuffa, Nathalie ^a   Guida, Elizabeth ^e   Okui, Michiyo ^c   Rossier, Colette ^a   Hancock, Manuela ^d   Buchet, Karine ^a   Reymond, Alexandre ^a   Hummler, Edith ^b   Marzella, Philip L ^e   Kudoh, Jun ^c   Shimizu, Nobuyoshi ^c   Scott, Hamish S ^d   Antonarakis, Stylianos E ^a   Rossier, Bernard C ^b  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMILORIDE; MUTANT PROTEIN; POLYPEPTIDE; SERINE PROTEINASE; SODIUM; SODIUM CHANNEL;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COCHLEA; CONTROLLED STUDY; CORTI ORGAN; EMBRYO; ENDOPLASMIC RETICULUM; ENZYME SUBSTRATE; EPITHELIUM CELL; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; IN SITU HYBRIDIZATION; IN VITRO STUDY; INNER EAR; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SODIUM CURRENT; SPIRAL GANGLION; STOMACH; STRIA VASCULARIS; TESTIS; THYMUS; XENOPUS;

ANIMALS; BINDING SITES; BLOTTING, WESTERN; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ENDOPLASMIC RETICULUM; EPITHELIAL SODIUM CHANNEL; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION; MALE; MEMBRANE PROTEINS; MICE; MUTATION, MISSENSE; NEOPLASM PROTEINS; OOCYTES; ORGAN OF CORTI; PROTEIN TRANSPORT; RABBITS; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SERINE ENDOPEPTIDASES; SODIUM CHANNELS; SPIRAL GANGLION; STRIA VASCULARIS; XENOPUS LAEVIS;

ANIMALIA;

EID: 0036849378     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.23.2829     Document Type: Article

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