Citations for
1KCNMA1, TMPRSS3
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
Molina L, Fasquelle L, Nouvian R, Salvetat N, Scott HS, Guipponi M, Molina F, Puel JL, Delprat B.
Hum Mol Genet 22(7):1289-99. doi: 10.1093/hmg/dds532. Epub 2012 Dec 18. 2013
2DFNB8, TMPRSS3
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 419(4):643-7. doi: 10.1016/j.bbrc.2012.02.066. Epub 2012 Feb 20. 2012
3DFNB10, DFNB8, TMPRSS3
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 12(6):753-66. Epub 2011 Jul 23. 2011
4CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663. 2011
5DFNB10, DFNB8, TMPRSS3
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B.
J Biol Chem 286(19):17383-97. Epub 2011 Mar 21. 2011
6CDH23, DFNB84, DFNB85, LHFPL5, MYO15A, MYO7A, PJVK, PTPRQ, TECTA, TMPRSS3
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.
Eur J Hum Genet 18(4):407-13. Epub 2009 Nov 4. 2010
7TMPRSS3
Induction of human tumor-associated differentially expressed gene-12 (TADG-12/TMPRSS3)-specific cytotoxic T lymphocytes in human lymphocyte antigen-A2.1-positive healthy donors and patients with advanced ovarian cancer.
Bellone S, Anfossi S, O'Brien TJ, Cannon MJ, Silasi DA, Azodi M, Schwartz PE, Rutherford TJ, Pecorelli S, Santin AD.
Cancer 115(4):800-11. 2009
8CORIN, DFNB24, DFNB25, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11E2, TMPRSS11F, TMPRSS2, TMPRSS3, TMPRSS5
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 29(1):130-41. 2008
9DFNB10,DFNB8,TMPRSS3
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Elbracht M, Senderek J, Eggermann T, Thurmer C, Park J, Westhofen M, Zerres K.
J Med Genet 44(6):e81. 2007
10SERPINI2, SERPINA1, SERPINB1, SERPINB5, SERPINB8, SERPINB4, TMPRSS3
Correlation of serpin-protease expression by comparative analysis of real-time PCR profiling data.
Badola S, Spurling H, Robison K, Fedyk ER, Silverman GA, Strayle J, Kapeller R, Tsu CA.
Genomics 88(2):173-84. Epub 2006 May 18. 2006
11TMPRSS3, DFNB8, DFNB10
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 117(6):528-35. Epub 2005 Jul 14. 2005
12TMPRSS3, DFNB8, DFNB10
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 80(2):124-31. Epub 2001 Dec 18. 2002
13TMPRSS3, RSPH1, UBASH3A
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
Wattenhofer M, Shibuya K, Kudoh J, Lyle R, Michaud J, Rossier C, Kawasaki K, Asakawa S, Minoshima S, Berry A, Bonne-Tamir B, Shimizu N, Antonarakis SE, Scott HS.
Hum Genet 108(2):140-7. 2001
14TMPRSS3
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 27(1):59-63. 2001
15DFNB10, DFNB8, TMPRSS3
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 38(6):396-400. No abstract available. 2001
16DFNB10, DFNB8, TMPRSS3
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 18(2):101-8. 2001