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Items: 1 to 20 of 115

1.

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;38(6):396-400. No abstract available.

2.

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.

3.

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;18(2):101-8.

PMID:
11462234
4.

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;117(6):528-35. Epub 2005 Jul 14.

PMID:
16021470
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. doi: 10.1016/j.gene.2013.07.108. Epub 2013 Aug 17.

PMID:
23958653
6.

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. doi: 10.1155/2017/4707315. Epub 2017 Jan 29.

7.

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.

PMID:
11137999
8.

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 1;11(23):2829-36.

PMID:
12393794
9.

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.

10.
11.

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;80(2):124-31. Epub 2001 Dec 18.

PMID:
11907649
12.

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;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23.

13.

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;82(1):56-63. doi: 10.1111/j.1399-0004.2011.01695.x. Epub 2011 May 25.

14.

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Guipponi M, Antonarakis SE, Scott HS.

Front Biosci. 2008 Jan 1;13:1557-67. Review.

PMID:
17981648
15.

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;124 Suppl 1:193S-204S. doi: 10.1177/0003489415575056. Epub 2015 Mar 13.

PMID:
25770132
16.

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. doi: 10.1016/j.bbrc.2012.02.066. Epub 2012 Feb 20.

PMID:
22382023
17.

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.

Eur Arch Otorhinolaryngol. 2016 May;273(5):1151-4. doi: 10.1007/s00405-015-3671-0. Epub 2015 Jun 3.

PMID:
26036852
18.

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;92(6):651-63. doi: 10.1007/s00109-014-1128-3. Epub 2014 Feb 15.

PMID:
24526180
19.

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 Dec 4;9(12):e114136. doi: 10.1371/journal.pone.0114136. eCollection 2014.

20.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H.

Hum Mutat. 2007 Jul;28(7):718-23.

PMID:
17373699

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