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Journal Abstract Search

168 related items for PubMed ID: 17981648

  • 1. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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. 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]

  • 6. 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]

  • 7. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
    Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P.
    Neural Plast; 2017 Mar 23; 2017():3192090. PubMed ID: 28695016
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  • 11. 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 Mar 23; 9(12):e114136. PubMed ID: 25474651
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  • 12. 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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  • 13. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
    Elbracht M, Senderek J, Eggermann T, Thürmer C, Park J, Westhofen M, Zerres K.
    J Med Genet; 2007 Jun 30; 44(6):e81. PubMed ID: 17551081
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 80(2):124-31. PubMed ID: 11907649
    [Abstract] [Full Text] [Related]

  • 15. 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 Feb 30; 2017():4707315. PubMed ID: 28246597
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  • 16. Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
    Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X.
    Audiol Neurootol; 2023 Feb 30; 28(6):407-419. PubMed ID: 37331337
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  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss.
    Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee SY, Oh SH.
    Gene; 2023 May 20; 865():147335. PubMed ID: 36871673
    [Abstract] [Full Text] [Related]

  • 19. 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 20; 372(3):445-456. PubMed ID: 29460002
    [Abstract] [Full Text] [Related]

  • 20. Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
    Li X, Tan B, Wang X, Xu X, Wang C, Zhong M, Zhao Q, Bao Z, Peng W, Zhang L, Cheng J, Lu Y, Wu P, Yuan H.
    Mol Genet Genomic Med; 2019 Jun 20; 7(6):e685. PubMed ID: 31016883
    [Abstract] [Full Text] [Related]

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