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249 related items for PubMed ID: 12393794
1. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. Hum Mol Genet; 2002 Nov 01; 11(23):2829-36. PubMed ID: 12393794 [Abstract] [Full Text] [Related]
2. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, Braillard B, Fowler-Jaeger N, Reymond A, Rossier BC, Karaguzel A, Antonarakis SE. Hum Genet; 2005 Oct 01; 117(6):528-35. PubMed ID: 16021470 [Abstract] [Full Text] [Related]
3. TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. Guipponi M, Antonarakis SE, Scott HS. Front Biosci; 2008 Jan 01; 13():1557-67. PubMed ID: 17981648 [Abstract] [Full Text] [Related]
4. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M. Hum Mutat; 2001 Aug 01; 18(2):101-8. PubMed ID: 11462234 [Abstract] [Full Text] [Related]
5. 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, Vuagniaux G, Fowler-Jaeger N, Hummler E, Rossier BC. J Am Soc Nephrol; 2006 Apr 01; 17(4):968-76. PubMed ID: 16524950 [Abstract] [Full Text] [Related]
6. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. BMC Med Genet; 2004 Sep 24; 5():24. PubMed ID: 15447792 [Abstract] [Full Text] [Related]
7. Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss. Wong SH, Yen YC, Li SY, Yang JJ. Int J Mol Sci; 2020 Mar 30; 21(7):. PubMed ID: 32235586 [Abstract] [Full Text] [Related]
8. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. Lee J, Baek JI, Choi JY, Kim UK, Lee SH, Lee KY. Gene; 2013 Dec 15; 532(2):276-80. PubMed ID: 23958653 [Abstract] [Full Text] [Related]
9. In vitro and in vivo regulation of transepithelial lung alveolar sodium transport by serine proteases. Planès C, Leyvraz C, Uchida T, Angelova MA, Vuagniaux G, Hummler E, Matthay M, Clerici C, Rossier B. Am J Physiol Lung Cell Mol Physiol; 2005 Jun 15; 288(6):L1099-109. PubMed ID: 15681398 [Abstract] [Full Text] [Related]
10. Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti. Liu W, Löwenheim H, Santi PA, Glueckert R, Schrott-Fischer A, Rask-Andersen H. Cell Tissue Res; 2018 Jun 15; 372(3):445-456. PubMed ID: 29460002 [Abstract] [Full Text] [Related]
11. Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8. Du W, Ergin V, Loeb C, Huang M, Silver S, Armstrong AM, Huang Z, Gurumurthy CB, Staecker H, Liu X, Chen ZY. Mol Ther; 2023 Sep 06; 31(9):2796-2810. PubMed ID: 37244253 [Abstract] [Full Text] [Related]
12. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Guipponi M, Toh MY, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZ, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJ, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS. Hum Mutat; 2008 Jan 06; 29(1):130-41. PubMed ID: 17918732 [Abstract] [Full Text] [Related]
13. Activation of the amiloride-sensitive epithelial sodium channel by the serine protease mCAP1 expressed in a mouse cortical collecting duct cell line. Vuagniaux G, Vallet V, Jaeger NF, Pfister C, Bens M, Farman N, Courtois-Coutry N, Vandewalle A, Rossier BC, Hummler E. J Am Soc Nephrol; 2000 May 06; 11(5):828-834. PubMed ID: 10770960 [Abstract] [Full Text] [Related]
14. [Expression of proteinase TMPRSS3 in mouse cochlea]. Ge S, Wang Q, Peng A, Wu W, Xie D. Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2011 Aug 06; 36(8):794-8. PubMed ID: 21937810 [Abstract] [Full Text] [Related]
15. Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B. J Biol Chem; 2011 May 13; 286(19):17383-97. PubMed ID: 21454591 [Abstract] [Full Text] [Related]
16. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Nat Genet; 2001 Jan 13; 27(1):59-63. PubMed ID: 11137999 [Abstract] [Full Text] [Related]
17. Regulation of the epithelial sodium channel by serine proteases in human airways. Donaldson SH, Hirsh A, Li DC, Holloway G, Chao J, Boucher RC, Gabriel SE. J Biol Chem; 2002 Mar 08; 277(10):8338-45. PubMed ID: 11756432 [Abstract] [Full Text] [Related]
18. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. Lee YJ, Park D, Kim SY, Park WJ. J Med Genet; 2003 Aug 08; 40(8):629-31. PubMed ID: 12920079 [No Abstract] [Full Text] [Related]
19. Effects of the serine/threonine kinase SGK1 on the epithelial Na(+) channel (ENaC) and CFTR: implications for cystic fibrosis. Wagner CA, Ott M, Klingel K, Beck S, Melzig J, Friedrich B, Wild KN, Bröer S, Moschen I, Albers A, Waldegger S, Tümmler B, Egan ME, Geibel JP, Kandolf R, Lang F. Cell Physiol Biochem; 2001 Aug 08; 11(4):209-18. PubMed ID: 11509829 [Abstract] [Full Text] [Related]
20. Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. Charif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A. Biochem Biophys Res Commun; 2012 Mar 23; 419(4):643-7. PubMed ID: 22382023 [Abstract] [Full Text] [Related] Page: [Next] [New Search]