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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: raible dw. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.
Using the zebrafish lateral line to screen for ototoxicity.
Chiu LL, Cunningham LL, Raible DW, Rubel EW, Ou HC. Chiu LL, et al. Among authors: raible dw. J Assoc Res Otolaryngol. 2008 Jun;9(2):178-90. doi: 10.1007/s10162-008-0118-y. Epub 2008 Apr 12. J Assoc Res Otolaryngol. 2008. PMID: 18408970 Free PMC article.
133 results