DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3

被引：9

作者：

Ali, R. A. ^{[2
]}

Rehman, A. U. ^{[3
]}

Khan, S. N. ^{[2
,4
]}

Husnain, T. ^{[2
]}

Riazuddin, S. ^{[1
,2
,4
,5
,6
,7
]}

Friedman, T. B. ^{[3
]}

Ahmed, Z. M. ^{[2
,5
,6
,7
]}

Riazuddin, S. ^{[1
,2
,4
,5
,6
,7
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Pediat Otolaryngol Head & Neck Surg, Mol Genet Lab,Childrens Hosp Res Fdn, Cincinnati, OH USA

[2] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan

[3] NIDOCD, Sect Human Genet, Mol Genet Lab, NIH, Rockville, MD USA

[4] Univ Hlth Sci, Allama Iqbal Med Coll, Lahore, Pakistan

[5] Univ Cincinnati, Coll Med, Dept Otolaryngol, Cincinnati, OH 45221 USA

[6] Univ Cincinnati, Cincinnati Childrens Hosp Res Fdn, Div Pediat Ophthalmol, Cincinnati, OH 45221 USA

[7] Univ Cincinnati, Coll Med, Dept Ophthalmol, Cincinnati, OH 45221 USA

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 05期

关键词：

MUTATIONS; MICE;

D O I：

10.1111/j.1399-0004.2011.01729.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：498 / 500

页数：3

共 9 条

[1] Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74 [J].

Ahmed, Zubair M. ;

Yousaf, Rizwan ;

Lee, Byung Cheon ;

Khan, Shaheen N. ;

Lee, Sue ;

Lee, Kwanghyuk ;

Husnain, Tayyab ;

Rehman, Atteeq Ur ;

Bonneux, Sarah ;

Ansar, Muhammad ;

Ahmad, Wasim ;

Leal, Suzanne M. ;

Gladyshev, Vadim N. ;

Belyantseva, Inna A. ;

Van Camp, Guy ;

Riazuddin, Sheikh ;

Friedman, Thomas B. ;

Riazuddin, Saima .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (01) :19-29

[2] Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration [J].

Ben-Yosef, T ;

Belyantseva, IA ;

Saunders, TL ;

Hughes, ED ;

Kawamoto, K ;

Van Itallie, CM ;

Beyer, LA ;

Halsey, K ;

Gardner, DJ ;

Wilcox, ER ;

Rasmussen, J ;

Anderson, JM ;

Dolan, DF ;

Forge, A ;

Raphael, Y ;

Camper, SA ;

Friedman, TB .

HUMAN MOLECULAR GENETICS, 2003, 12 (16) :2049-2061

[3] Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy [J].

Ducroq, Dominique ;

Shalev, Stavit ;

Habib, Aviv ;

Munnich, Arnold ;

Kaplan, Josseline ;

Rozet, Jean-Michel .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (12) :1269-1273

[4] Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function [J].

Gow, A ;

Davies, C ;

Southwood, CM ;

Frolenkov, G ;

Chrustowski, M ;

Ng, L ;

Yamauchi, D ;

Marcus, DC ;

Kachar, B .

JOURNAL OF NEUROSCIENCE, 2004, 24 (32) :7051-7062

[5] A Claudin-9-Based Ion Permeability Barrier Is Essential for Hearing [J].

Nakano, Yoko ;

Kim, Sung H. ;

Kim, Hyoung-Mi ;

Sanneman, Joel D. ;

Zhang, Yuzhou ;

Smith, Richard J. H. ;

Marcus, Daniel C. ;

Wangemann, Philine ;

Nessler, Randy A. ;

Banfi, Botond .

PLOS GENETICS, 2009, 5 (08)

[6] Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79 [J].

Rehman, Atteeq Ur ;

Morell, Robert J. ;

Belyantseva, Inna A. ;

Khan, Shahid Y. ;

Boger, Erich T. ;

Shahzad, Mohsin ;

Ahmed, Zubair M. ;

Riazuddin, Saima ;

Khan, Shaheen N. ;

Riazuddin, Sheikh ;

Friedman, Thomas B. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (03) :378-388

[7] Tricellulin is a tight-junction protein necessary for hearing [J].

Riazuddin, Saima ;

Ahmed, Zubair M. ;

Fanning, Alan S. ;

Lagziel, Ayala ;

Kitajiri, Shin-ichiro ;

Ramzan, Khushnooda ;

Khan, Shaheen N. ;

Chattaraj, Parna ;

Friedman, Penelope L. ;

Anderson, James M. ;

Belyantseva, Inna A. ;

Forge, Andrew ;

Riazuddin, Sheikh ;

Friedman, Thomas B. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (06) :1040-1051

[8] Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome [J].

Riazuddin, Saima ;

Anwar, Saima ;

Fischer, Martin ;

Ahmed, Zubair M. ;

Khan, Shahid Y. ;

Janssen, Audrey G. H. ;

Zafar, Ahmad U. ;

Scholl, Ute ;

Husnain, Tayyab ;

Belyantseva, Inna A. ;

Friedman, Penelope L. ;

Riazuddin, Sheikh ;

Friedman, Thomas B. ;

Fahlke, Christoph .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (02) :273-280

[9] Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 [J].

Wilcox, ER ;

Burton, QL ;

Naz, S ;

Riazuddin, S ;

Smith, TN ;

Ploplis, B ;

Belyantseva, I ;

Ben-Yosef, T ;

Liburd, NA ;

Morell, RJ ;

Kachar, B ;

Wu, DK ;

Griffith, AJ ;

Riazuddin, S ;

Friedman, TB .

CELL, 2001, 104 (01) :165-172

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