Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene
Buch, Prateek K, Mihelec, Marija, Cottrill, Phillippa, Wilkie, Susan E, Pearson, Rachael A, Duran, Yanai, West, Emma L, Michaelides, Michel, Ali, Robin R, Hunt, David M
Published in PloS one (28.03.2011)
Published in PloS one (28.03.2011)
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The molecular mechanism for the spectral shifts between vertebrate ultraviolet- and violet-sensitive cone visual pigments
Cowing, Jill A, Poopalasundaram, Subathra, Wilkie, Susan E, Robinson, Phyllis R, Bowmaker, James K, Hunt, David M
Published in Biochemical journal (01.10.2002)
Published in Biochemical journal (01.10.2002)
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Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle
Carvalho, Lívia dos S., Cowing, Jill A., Wilkie, Susan E., Bowmaker, James K., Hunt, David M.
Published in Current biology (07.02.2006)
Published in Current biology (07.02.2006)
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Spectral Tuning of Avian Violet- and Ultraviolet-Sensitive Visual Pigments
Wilkie, Susan E, Robinson, Phyllis R, Cronin, Thomas W, Poopalasundaram, Subathra, Bowmaker, James K, Hunt, David M
Published in Biochemistry (Easton) (11.07.2000)
Published in Biochemistry (Easton) (11.07.2000)
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Functional Analysis of Missense Mutations in Kv8.2 Causing Cone Dystrophy with Supernormal Rod Electroretinogram
Smith, Katie E., Wilkie, Susan E., Tebbs-Warner, Joseph T., Jarvis, Bradley J., Gallasch, Linn, Stocker, Martin, Hunt, David M.
Published in The Journal of biological chemistry (21.12.2012)
Published in The Journal of biological chemistry (21.12.2012)
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The molecular basis for UV vision in birds: spectral characteristics, cDNA sequence and retinal localization of the UV-sensitive visual pigment of the budgerigar (Melopsittacus undulatus)
Wilkie, S E, Vissers, P M, Das, D, Degrip, W J, Bowmaker, J K, Hunt, D M
Published in Biochemical journal (15.02.1998)
Published in Biochemical journal (15.02.1998)
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Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans
Wu, Huimin, Cowing, Jill A., Michaelides, Michel, Wilkie, Susan E., Jeffery, Glen, Jenkins, Sharon A., Mester, Viktoria, Bird, Alan C., Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Hunt, David M., Webster, Andrew R.
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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The Molecular Evolution of Avian Ultraviolet- and Violet-Sensitive Visual Pigments
Carvalho, Livia S., Cowing, Jill A., Wilkie, Susan E., Bowmaker, James K., Hunt, David M.
Published in Molecular biology and evolution (01.08.2007)
Published in Molecular biology and evolution (01.08.2007)
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Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
Johnson, Samantha, Halford, Stephanie, Morris, Alex G, Patel, Reshma J, Wilkie, Susan E, Hardcastle, Alison J, Moore, Anthony T, Zhang, Kang, Hunt, David M
Published in Genomics (San Diego, Calif.) (01.03.2003)
Published in Genomics (San Diego, Calif.) (01.03.2003)
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Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
Wilkie, Susan E, Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F, Bhattacharya, Shomi S, Warren, Martin J, Hunt, David M
Published in Molecular vision (18.04.2008)
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Published in Molecular vision (18.04.2008)
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Mutation in the Gene GUCA1A, Encoding Guanylate Cyclase-Activating Protein 1, Causes Cone, Cone-Rod, and Macular Dystrophy
Michaelides, Michel, Wilkie, Susan E., Jenkins, Sharon, Holder, Graham E., Hunt, David M., Moore, Anthony T., Webster, Andrew R.
Published in Ophthalmology (Rochester, Minn.) (01.08.2005)
Published in Ophthalmology (Rochester, Minn.) (01.08.2005)
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Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity
Ramamurthy, Visvanathan, Tucker, Chandra, Wilkie, Susan E., Daggett, Valerie, Hunt, David M., Hurley, James B.
Published in The Journal of biological chemistry (13.07.2001)
Published in The Journal of biological chemistry (13.07.2001)
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Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
Deery, Evelyne C., Vithana, Eranga N., Newbold, Richard J., Gallon, Victoria A., Bhattacharya, Shomi S., Warren, Martin. J., Hunt, David M., Wilkie, Susan E.
Published in Human molecular genetics (01.12.2002)
Published in Human molecular genetics (01.12.2002)
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Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
Wilkie, Susan E., Li, Yang, Deery, Evelyne C., Newbold, Richard J., Garibaldi, Daniel, Bateman, J. Bronwyn, Zhang, Heidi, Lin, Wei, Zack, Donald J., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M., Zhang, Kang
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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Journal Article
Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation
Sisodiya, Sanjay M, Thompson, Pamela J, Need, Anna, Harris, Sarah E, Weale, Michael E, Wilkie, Susan E, Michaelides, Michel, Free, Samantha L, Walley, Nicole, Gumbs, Curtis, Gerrelli, Dianne, Ruddle, Piers, Whalley, Lawrence J, Starr, John M, Hunt, David M, Goldstein, David B, Deary, Ian J, Moore, Anthony T
Published in Journal of medical genetics (01.06.2007)
Published in Journal of medical genetics (01.06.2007)
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A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP)
Wilkie, Susan E., Morris, Keith J., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
Published in Biochimica et biophysica acta (01.03.2006)
Published in Biochimica et biophysica acta (01.03.2006)
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