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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. Azaiez H, et al. Among authors: zhang y. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25816005 Free PMC article.
Inactivation of NADPH oxidase organizer 1 results in severe imbalance.
Kiss PJ, Knisz J, Zhang Y, Baltrusaitis J, Sigmund CD, Thalmann R, Smith RJ, Verpy E, Bánfi B. Kiss PJ, et al. Among authors: zhang y. Curr Biol. 2006 Jan 24;16(2):208-13. doi: 10.1016/j.cub.2005.12.025. Curr Biol. 2006. PMID: 16431374 Free article.
Human male infertility caused by mutations in the CATSPER1 channel protein.
Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Avenarius MR, et al. Among authors: zhang y. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344877 Free PMC article.
A claudin-9-based ion permeability barrier is essential for hearing.
Nakano Y, Kim SH, Kim HM, Sanneman JD, Zhang Y, Smith RJ, Marcus DC, Wangemann P, Nessler RA, Bánfi B. Nakano Y, et al. Among authors: zhang y. PLoS Genet. 2009 Aug;5(8):e1000610. doi: 10.1371/journal.pgen.1000610. Epub 2009 Aug 21. PLoS Genet. 2009. PMID: 19696885 Free PMC article.
Genetic male infertility and mutation of CATSPER ion channels.
Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Hildebrand MS, et al. Among authors: zhang y. Eur J Hum Genet. 2010 Nov;18(11):1178-84. doi: 10.1038/ejhg.2010.108. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648059 Free PMC article. Review.
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