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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P. Kennan A, et al. Among authors: aherne a. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049
On the role of IMPDH1 in retinal degeneration.
Kennan A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF, Humphries P. Kennan A, et al. Among authors: aherne a. Adv Exp Med Biol. 2003;533:13-8. doi: 10.1007/978-1-4615-0067-4_2. Adv Exp Med Biol. 2003. PMID: 15180242 Free PMC article. No abstract available.
Light in retinitis pigmentosa.
Kennan A, Aherne A, Humphries P. Kennan A, et al. Among authors: aherne a. Trends Genet. 2005 Feb;21(2):103-10. doi: 10.1016/j.tig.2004.12.001. Trends Genet. 2005. PMID: 15661356 Review.
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P. Tam LC, et al. Among authors: aherne a. Hum Mol Genet. 2008 Jul 15;17(14):2084-100. doi: 10.1093/hmg/ddn107. Epub 2008 Apr 1. Hum Mol Genet. 2008. PMID: 18385099
22 results