Hunt DM - Search Results

1

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

2

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

3

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Michaelides M, et al. Among authors: hunt dm. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

4

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.

Buch PK, Mihelec M, Cottrill P, Wilkie SE, Pearson RA, Duran Y, West EL, Michaelides M, Ali RR, Hunt DM. Buch PK, et al. Among authors: hunt dm. PLoS One. 2011 Mar 28;6(3):e18089. doi: 10.1371/journal.pone.0018089. PLoS One. 2011. PMID: 21464903 Free PMC article.

5

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: hunt dm. Hum Mol Genet. 2000 Dec 12;9(20):3065-73. doi: 10.1093/hmg/9.20.3065. Hum Mol Genet. 2000. PMID: 11115851

6

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: hunt dm. Hum Mol Genet. 2001 Jan 1;10(1):47-54. doi: 10.1093/hmg/10.1.47. Hum Mol Genet. 2001. PMID: 11136713

7

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: hunt dm. 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.

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: hunt dm. 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

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

10

Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.

Gallon VA, Wilkie SE, Deery EC, Newbold RJ, Sohocki MM, Bhattacharya SS, Hunt DM, Warren MJ. Gallon VA, et al. Among authors: hunt dm. Biochim Biophys Acta. 2004 Oct 14;1690(2):141-9. doi: 10.1016/j.bbadis.2004.06.012. Biochim Biophys Acta. 2004. PMID: 15469903 Free article.

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