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Journal Abstract Search

159 related items for PubMed ID: 16021470

  • 1. 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; 117(6):528-35. PubMed ID: 16021470
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  • 2. 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
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  • 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
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  • 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
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  • 5. 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
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  • 6. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
    Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE.
    J Mol Med (Berl); 2002 Feb 24; 80(2):124-31. PubMed ID: 11907649
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  • 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
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  • 11. The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
    Kim AR, Chung J, Kim NKD, Lee C, Park WY, Oh DY, Choi BY.
    Int J Mol Sci; 2017 Oct 26; 18(11):. PubMed ID: 29072634
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  • 12. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
    Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ.
    J Med Genet; 2001 Jun 26; 38(6):396-400. PubMed ID: 11424922
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  • 13. 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 26; 40(8):629-31. PubMed ID: 12920079
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  • 16. Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
    Gao X, Yuan YY, Wang GJ, Xu JC, Su Y, Lin X, Dai P.
    Biomed Res Int; 2017 Aug 26; 2017():4707315. PubMed ID: 28246597
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