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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
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
181 results