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Journal Abstract Search

207 related items for PubMed ID: 15447792

  • 1. 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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  • 2. 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, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY.
    J Mol Med (Berl); 2014 Jun 24; 92(6):651-63. PubMed ID: 24526180
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  • 3. 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
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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 15; 18(2):101-8. PubMed ID: 11462234
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  • 8. 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 15; 117(6):528-35. PubMed ID: 16021470
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  • 9. 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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  • 14. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
    Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.
    Eur Arch Otorhinolaryngol; 2016 May 01; 273(5):1151-4. PubMed ID: 26036852
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  • 15. 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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  • 16. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
    Fan D, Zhu W, Li D, Ji D, Wang P.
    PLoS One; 2014 Jan 01; 9(12):e114136. PubMed ID: 25474651
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  • 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 01; 40(8):629-31. PubMed ID: 12920079
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  • 20. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
    Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM.
    Clin Genet; 2012 Jul 01; 82(1):56-63. PubMed ID: 21534946
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