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Journal Abstract Search

191 related items for PubMed ID: 25474651

  • 1. 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; 9(12):e114136. PubMed ID: 25474651
    [Abstract] [Full Text] [Related]

  • 2. 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; 2017():4707315. PubMed ID: 28246597
    [Abstract] [Full Text] [Related]

  • 3. 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; 44(6):e81. PubMed ID: 17551081
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 15; 92(6):651-63. PubMed ID: 24526180
    [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. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
    Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.
    PLoS One; 2014 Sep 24; 9(6):e100146. PubMed ID: 24949729
    [Abstract] [Full Text] [Related]

  • 8. 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 24; 82(1):56-63. PubMed ID: 21534946
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.
    Lin F, Li D, Wang P, Fan D, De J, Zhu W.
    Int J Pediatr Otorhinolaryngol; 2014 Dec 01; 78(12):2216-21. PubMed ID: 25458163
    [Abstract] [Full Text] [Related]

  • 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 Dec 01; 2017():3192090. PubMed ID: 28695016
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
    Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.
    Ann Otol Rhinol Laryngol; 2015 May 01; 124 Suppl 1():193S-204S. PubMed ID: 25770132
    [Abstract] [Full Text] [Related]

  • 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 01; 273(5):1151-4. PubMed ID: 26036852
    [Abstract] [Full Text] [Related]

  • 16. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
    Huang B, Liu Y, Gao X, Xu J, Dai P, Zhu Q, Yuan Y.
    BMC Med Genet; 2017 Mar 24; 18(1):36. PubMed ID: 28340560
    [Abstract] [Full Text] [Related]

  • 17. 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 Mar 24; 28(6):407-419. PubMed ID: 37331337
    [Abstract] [Full Text] [Related]

  • 18. 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 24; 117(6):528-35. PubMed ID: 16021470
    [Abstract] [Full Text] [Related]

  • 19. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
    Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.
    J Assoc Res Otolaryngol; 2011 Dec 24; 12(6):753-66. PubMed ID: 21786053
    [Abstract] [Full Text] [Related]

  • 20. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
    Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.
    PLoS One; 2014 Dec 24; 9(1):e84773. PubMed ID: 24416283
    [Abstract] [Full Text] [Related]

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