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

Author:

Wattenhofer Marie,Sahin-Calapoglu Nilüfer,Andreasen Ditte,Kalay Ersan,Caylan Refik,Braillard Bastien,Fowler-Jaeger Nicole,Reymond Alexandre,Rossier Bernard C.,Karaguzel Ahmet,Antonarakis Stylianos E.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Afar DE, Vivanco I, Hubert RS, Kuo J, Chen E, Saffran DC, Raitano AB, Jakobovits A (2001) Catalytic cleavage of the androgen-regulated TMPRSS2 protease results in its secretion by prostate and prostate cancer epithelia. Cancer Res 61:1686–1692

2. 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, Friedman TB, Morell RJ, Wilcox ER (2004) Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 5:24

3. 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, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ (2001) Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 38:396–400

4. Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonne-Tamir B (2000) Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics 68:22–29

5. Bonne-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet 58:1254–1259

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3