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Journal Abstract Search

123 related items for PubMed ID: 12920079

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  • 2. 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; 27(1):59-63. PubMed ID: 11137999
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  • 3. 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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  • 4. 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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  • 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
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  • 8. 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 15; 80(2):124-31. PubMed ID: 11907649
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  • 10. 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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  • 11. 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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  • 12. 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 Jun 26; 2017():3192090. PubMed ID: 28695016
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  • 15. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
    Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.
    Eur Arch Otorhinolaryngol; 2016 May 26; 273(5):1151-4. PubMed ID: 26036852
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  • 18. 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 26; 29(1):130-41. PubMed ID: 17918732
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  • 19. [Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].
    Ren SM, Wu QH, Chen C, Kong XD.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Apr 07; 55(4):344-349. PubMed ID: 32306631
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  • 20. 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 Apr 07; 9(12):e114136. PubMed ID: 25474651
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