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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: humphries m, humphries p. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049
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: humphries p, humphries mm. 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
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy.
Kenna PF, Humphries MM, Kiang AS, Brabet P, Guillou L, Ozaki E, Campbell M, Farrar GJ, Koenekoop R, Humphries P. Kenna PF, et al. Among authors: humphries p, humphries mm. BMJ Open Ophthalmol. 2020 May 5;5(1):e000462. doi: 10.1136/bmjophth-2020-000462. eCollection 2020. BMJ Open Ophthalmol. 2020. PMID: 32426524 Free PMC article.
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa.
Millington-Ward S, Chadderton N, O'Reilly M, Palfi A, Goldmann T, Kilty C, Humphries M, Wolfrum U, Bennett J, Humphries P, Kenna PF, Farrar GJ. Millington-Ward S, et al. Among authors: humphries m, humphries p. Mol Ther. 2011 Apr;19(4):642-9. doi: 10.1038/mt.2010.293. Epub 2011 Jan 11. Mol Ther. 2011. PMID: 21224835 Free PMC article.
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. Bowne SJ, et al. Among authors: humphries p, humphries mm. Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654732 Free PMC article.
301 results