Literature DB >> 12920079

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

Y J Lee, D Park, S Y Kim, W J Park.   

Abstract

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Year:  2003        PMID： 12920079      PMCID： PMC1735556          DOI： 10.1136/jmg.40.8.629

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  22 in total

Review 1.  Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.

Authors:  Theo A Peters; Leo A H Monnens; Cor W R J Cremers; Jo H A J Curfs
Journal:  Pediatr Nephrol       Date:  2004-09-09       Impact factor: 3.714

Review 2.  The cutting edge: membrane-anchored serine protease activities in the pericellular microenvironment.

Authors:  Toni M Antalis; Marguerite S Buzza; Kathryn M Hodge; John D Hooper; Sarah Netzel-Arnett
Journal:  Biochem J       Date:  2010-06-15       Impact factor: 3.857

3.  TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

Authors:  Saba Battelino; Gasper Klancar; Jernej Kovac; Tadej Battelino; Katarina Trebusak Podkrajsek
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-06-03       Impact factor: 2.503

4.  Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

Authors:  Lydie Fasquelle; Hamish S Scott; Marc Lenoir; Jing Wang; Guy Rebillard; Sophie Gaboyard; Stéphanie Venteo; Florence François; Anne-Laure Mausset-Bonnefont; Stylianos E Antonarakis; Elizabeth Neidhart; Christian Chabbert; Jean-Luc Puel; Michel Guipponi; Benjamin Delprat
Journal:  J Biol Chem       Date:  2011-03-21       Impact factor: 5.157

5.  Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Authors:  K Lee; S Khan; A Islam; M Ansar; P B Andrade; S Kim; R L P Santos-Cortez; W Ahmad; S M Leal
Journal:  Clin Genet       Date:  2011-05-25       Impact factor: 4.438

Review 6.  Regulation of the epithelial Na+ channel by peptidases.

Authors:  Carole Planès; George H Caughey
Journal:  Curr Top Dev Biol       Date:  2007       Impact factor: 4.897

7.  A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

Authors:  Marie Wattenhofer; Nilüfer Sahin-Calapoglu; Ditte Andreasen; Ersan Kalay; Refik Caylan; Bastien Braillard; Nicole Fowler-Jaeger; Alexandre Reymond; Bernard C Rossier; Ahmet Karaguzel; Stylianos E Antonarakis
Journal:  Hum Genet       Date:  2005-07-14       Impact factor: 4.132

8.  A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.

Authors:  Juyong Chung; Sang Min Park; Sun O Chang; Taesu Chung; Kyoung Yeul Lee; Ah Reum Kim; Joo Hyun Park; Veronica Kim; Woong-Yang Park; Seung-Ha Oh; Dongsup Kim; Woo Jin Park; Byung Yoon Choi
Journal:  J Mol Med (Berl)       Date:  2014-02-15       Impact factor: 4.599

9.  Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Authors:  Zubair M Ahmed; Xiaoyan Cindy Li; Shontell D Powell; Saima Riazuddin; Terry-Lynn Young; Khushnooda Ramzan; Zahoor Ahmad; Sandra Luscombe; Kiran Dhillon; Linda MacLaren; Barbara Ploplis; Lawrence I Shotland; Elizabeth Ives; Sheikh Riazuddin; Thomas B Friedman; Robert J Morell; Edward R Wilcox
Journal:  BMC Med Genet       Date:  2004-09-24       Impact factor: 2.103

10.  Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Authors:  Nicole J D Weegerink; Margit Schraders; Jaap Oostrik; Patrick L M Huygen; Tim M Strom; Susanne Granneman; Ronald J E Pennings; Hanka Venselaar; Lies H Hoefsloot; Mariet Elting; Cor W R J Cremers; Ronald J C Admiraal; Hannie Kremer; Henricus P M Kunst
Journal:  J Assoc Res Otolaryngol       Date:  2011-07-23
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