Literature DB >> 11424922

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

T Ben-Yosef, M Wattenhofer, S Riazuddin, Z M Ahmed, H S Scott, J Kudoh, K Shibuya, S E Antonarakis, B Bonne-Tamir, U Radhakrishna, S Naz, Z Ahmed, S Riazuddin, A Pandya, W E Nance, E R Wilcox, T B Friedman, R J Morell.   

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Year:  2001        PMID： 11424922      PMCID： PMC1734898          DOI： 10.1136/jmg.38.6.396

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


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  23 in total

1.  A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

Authors:  Rehan Sadiq Shaikh; Khushnooda Ramzan; Sabiha Nazli; Sameera Sattar; Shaheen N Khan; Saima Riazuddin; Zubair M Ahmed; Thomas B Friedman; Sheikh Riazuddin
Journal:  Am J Med Genet A       Date:  2005-11-01       Impact factor: 2.802

2.  Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Authors:  Rabia Faridi; Risa Tona; Alessandra Brofferio; Michael Hoa; Rafal Olszewski; Isabelle Schrauwen; Muhammad Z K Assir; Akhtar A Bandesha; Asma A Khan; Atteeq U Rehman; Carmen Brewer; Wasim Ahmed; Suzanne M Leal; Sheikh Riazuddin; Steven E Boyden; Thomas B Friedman
Journal:  Hum Mutat       Date:  2018-12-12       Impact factor: 4.878

Review 3.  Membrane-anchored serine proteases in vertebrate cell and developmental biology.

Authors:  Roman Szabo; Thomas H Bugge
Journal:  Annu Rev Cell Dev Biol       Date:  2011-06-29       Impact factor: 13.827

4.  Differential expression of genes within the cochlea as defined by a custom mouse inner ear microarray.

Authors:  Ken A Morris; Einat Snir; Celine Pompeia; Irina V Koroleva; Bechara Kachar; Yoshihide Hayashizaki; Piero Carninci; M Bento Soares; Kirk W Beisel
Journal:  J Assoc Res Otolaryngol       Date:  2005-04-22

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

6.  Phenotypic analysis of mice lacking the Tmprss2-encoded protease.

Authors:  Tom S Kim; Cynthia Heinlein; Robert C Hackman; Peter S Nelson
Journal:  Mol Cell Biol       Date:  2006-02       Impact factor: 4.272

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.  Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.

Authors:  Michel Guipponi; Justin Tan; Ping Z F Cannon; Lauren Donley; Pauline Crewther; Maria Clarke; Qingyu Wu; Robert K Shepherd; Hamish S Scott
Journal:  Am J Pathol       Date:  2007-07-09       Impact factor: 4.307
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