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Page 1
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. 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.
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV. Reed AA, et al. Am J Physiol Renal Physiol. 2010 Feb;298(2):F365-80. doi: 10.1152/ajprenal.00038.2009. Epub 2009 Nov 25. Am J Physiol Renal Physiol. 2010. PMID: 19940036 Free PMC article.
11 results