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Page 1
Early development of hearing in zebrafish.
Lu Z, DeSmidt AA. Lu Z, et al. J Assoc Res Otolaryngol. 2013 Aug;14(4):509-21. doi: 10.1007/s10162-013-0386-z. Epub 2013 Apr 11. J Assoc Res Otolaryngol. 2013. PMID: 23575600 Free PMC article.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S. Grati M, et al. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18. Hum Mol Genet. 2015. PMID: 25601850 Free PMC article.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X. Ben Said M, et al. Hum Genet. 2016 May;135(5):513-524. doi: 10.1007/s00439-016-1657-7. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023905 Free PMC article.