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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. Sayer JA, et al. Among authors: lillo c. Nat Genet. 2006 Jun;38(6):674-81. doi: 10.1038/ng1786. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682973
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Otto EA, et al. Among authors: lillo c. Nat Genet. 2005 Mar;37(3):282-8. doi: 10.1038/ng1520. Epub 2005 Feb 20. Nat Genet. 2005. PMID: 15723066
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. Chang B, et al. Among authors: lillo c. Hum Mol Genet. 2006 Jun 1;15(11):1847-57. doi: 10.1093/hmg/ddl107. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632484 Free PMC article.
Cadherin 23 is a component of the tip link in hair-cell stereocilia.
Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, Müller U. Siemens J, et al. Among authors: lillo c. Nature. 2004 Apr 29;428(6986):950-5. doi: 10.1038/nature02483. Epub 2004 Mar 31. Nature. 2004. PMID: 15057245 Free article.
Mouse models for Usher syndrome 1B.
Lillo C, Kitamoto J, Liu X, Quint E, Steel KP, Williams DS. Lillo C, et al. Adv Exp Med Biol. 2003;533:143-50. doi: 10.1007/978-1-4615-0067-4_18. Adv Exp Med Biol. 2003. PMID: 15180258
181 results