Similar articles

• 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. Ahmed ZM, et al. BMC Med Genet. 2004 Sep 24;5:24. doi: 10.1186/1471-2350-5-24. BMC Med Genet. 2004. PMID: 15447792 Free PMC article.
• 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. Masmoudi S, et al. Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159. Hum Mutat. 2001. PMID: 11462234
• 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. Wattenhofer M, et al. Hum Genet. 2005 Oct;117(6):528-35. doi: 10.1007/s00439-005-1332-x. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021470
• TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

  Guipponi M, Antonarakis SE, Scott HS. Guipponi M, et al. Front Biosci. 2008 Jan 1;13:1557-67. doi: 10.2741/2780. Front Biosci. 2008. PMID: 17981648 Review.
• 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. Nisenbaum E, et al. Audiol Neurootol. 2023;28(6):407-419. doi: 10.1159/000528766. Epub 2023 Jun 16. Audiol Neurootol. 2023. PMID: 37331337 Free PMC article. Review.