Warren MJ - Search Results

1

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. Payne AM, et al. Among authors: warren mj. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

2

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.

Wilkie SE, Newbold RJ, Deery E, Walker CE, Stinton I, Ramamurthy V, Hurley JB, Bhattacharya SS, Warren MJ, Hunt DM. Wilkie SE, et al. Among authors: warren mj. Hum Mol Genet. 2000 Dec 12;9(20):3065-73. doi: 10.1093/hmg/9.20.3065. Hum Mol Genet. 2000. PMID: 11115851

3

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.

Newbold RJ, Deery EC, Walker CE, Wilkie SE, Srinivasan N, Hunt DM, Bhattacharya SS, Warren MJ. Newbold RJ, et al. Among authors: warren mj. Hum Mol Genet. 2001 Jan 1;10(1):47-54. doi: 10.1093/hmg/10.1.47. Hum Mol Genet. 2001. PMID: 11136713

4

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: warren mj. Arch Ophthalmol. 2001 Jan;119(1):96-105. Arch Ophthalmol. 2001. PMID: 11146732

5

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

Wilkie SE, Li Y, Deery EC, Newbold RJ, Garibaldi D, Bateman JB, Zhang H, Lin W, Zack DJ, Bhattacharya SS, Warren MJ, Hunt DM, Zhang K. Wilkie SE, et al. Among authors: warren mj. Am J Hum Genet. 2001 Sep;69(3):471-80. doi: 10.1086/323265. Epub 2001 Jul 31. Am J Hum Genet. 2001. PMID: 11484154 Free PMC article.

6

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.

Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, Bhattacharya SS, Baehr W, Palczewski K. Sokal I, et al. Among authors: warren mj. Mol Cell. 1998 Jul;2(1):129-33. doi: 10.1016/s1097-2765(00)80121-5. Mol Cell. 1998. PMID: 9702199 Free article.

7

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: warren mj. Biochim Biophys Acta. 2002 Aug 19;1577(1):73-80. doi: 10.1016/s0167-4781(02)00413-x. Biochim Biophys Acta. 2002. PMID: 12151097

8

Guanylate cyclase activating proteins, guanylate cyclase and disease.

Newbold RJ, Deery EC, Payne AM, Wilkie SE, Hunt DM, Warren MJ. Newbold RJ, et al. Among authors: warren mj. Adv Exp Med Biol. 2002;514:411-38. doi: 10.1007/978-1-4615-0121-3_25. Adv Exp Med Biol. 2002. PMID: 12596936 Review.

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. Among authors: warren mj. Novartis Found Symp. 2004;255:37-49; discussion 49-50, 177-8. doi: 10.1002/0470092645.ch4. Novartis Found Symp. 2004. PMID: 14750595

10

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: warren mj. Hum Mol Genet. 2002 Dec 1;11(25):3209-19. doi: 10.1093/hmg/11.25.3209. Hum Mol Genet. 2002. PMID: 12444105

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