Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48-Reference-Cited by-同舟云学术

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Published:2012-09-30 Issue:11 Volume:44 Page:1265-1271
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Riazuddin Saima,Belyantseva Inna A,Giese Arnaud P J,Lee Kwanghyuk,Indzhykulian Artur A,Nandamuri Sri Pratima,Yousaf Rizwan,Sinha Ghanshyam P,Lee Sue,Terrell David,Hegde Rashmi S,Ali Rana A,Anwar Saima,Andrade-Elizondo Paula B,Sirmaci Asli,Parise Leslie V,Basit Sulman,Wali Abdul,Ayub Muhammad,Ansar Muhammad,Ahmad Wasim,Khan Shaheen N,Akram Javed,Tekin Mustafa,Riazuddin Sheikh,Cook Tiffany,Buschbeck Elke K,Frolenkov Gregory I,Leal Suzanne M,Friedman Thomas B,Ahmed Zubair M

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2426.pdf

Reference63 articles.

1. Ahmad, J. et al. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum. Genet. 116, 407–412 (2005).

2. Ahmed, Z.M., Riazuddin, S., Khan, S.N., Friedman, P.L. & Friedman, T.B. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22–23. Clin. Genet. 75, 86–91 (2009).

3. Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248–249 (2010).

4. Schwarz, J.M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575–576 (2010).

5. Gentry, H.R. et al. Structural and biochemical characterization of CIB1 delineates a new family of EF-hand–containing proteins. J. Biol. Chem. 280, 8407–8415 (2005).

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