Hunt DM - Search Results

1

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.

Wilkie SE, Vaclavik V, Wu H, Bujakowska K, Chakarova CF, Bhattacharya SS, Warren MJ, Hunt DM. Wilkie SE, et al. Among authors: hunt dm. Mol Vis. 2008 Apr 18;14:683-90. Mol Vis. 2008. PMID: 18431455 Free PMC article.

2

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.

Deery EC, Vithana EN, Newbold RJ, Gallon VA, Bhattacharya SS, Warren MJ, Hunt DM, Wilkie SE. Deery EC, et al. Among authors: hunt dm. Hum Mol Genet. 2002 Dec 1;11(25):3209-19. doi: 10.1093/hmg/11.25.3209. Hum Mol Genet. 2002. PMID: 12444105

3

A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).

Wilkie SE, Morris KJ, Bhattacharya SS, Warren MJ, Hunt DM. Wilkie SE, et al. Among authors: hunt dm. Biochim Biophys Acta. 2006 Mar;1762(3):304-11. doi: 10.1016/j.bbadis.2005.12.004. Epub 2006 Jan 4. Biochim Biophys Acta. 2006. PMID: 16427773 Free article.

4

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

5

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. Vithana EN, et al. Among authors: hunt dm. Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7. Mol Cell. 2001. PMID: 11545739 Free article.

6

Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes.

Wilkie SE, Stinton I, Cottrill P, Deery E, Newbold R, Warren MJ, Bhattacharya SS, Hunt DM. Wilkie SE, et al. Among authors: hunt dm. Biochim Biophys Acta. 2002 Aug 19;1577(1):73-80. doi: 10.1016/s0167-4781(02)00413-x. Biochim Biophys Acta. 2002. PMID: 12151097

7

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. Johnson S, et al. Among authors: hunt dm. Genomics. 2003 Mar;81(3):304-14. doi: 10.1016/s0888-7543(03)00010-7. Genomics. 2003. PMID: 12659814

8

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. Vithana EN, et al. Among authors: hunt dm. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9. doi: 10.1167/iovs.03-0253. Invest Ophthalmol Vis Sci. 2003. PMID: 14507862

9

Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.

Hunt DM, Wilkie SE, Newbold R, Deery E, Warren MJ, Bhattacharya SS, Zhang K. Hunt DM, et al. Novartis Found Symp. 2004;255:37-49; discussion 49-50, 177-8. doi: 10.1002/0470092645.ch4. Novartis Found Symp. 2004. PMID: 14750595

10

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: hunt dm. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.

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