Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Susan E Wilkie"'
Autor:
Prateek K Buch, Marija Mihelec, Phillippa Cottrill, Susan E Wilkie, Rachael A Pearson, Yanai Duran, Emma L West, Michel Michaelides, Robin R Ali, David M Hunt
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e18089 (2011)
Cone dystrophy 3 (COD3) is a severe dominantly inherited retinal degeneration caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1). The role of GCAP1 in controlling cyclic nucleotide levels in photo
Externí odkaz:
https://doaj.org/article/3658d5bde1d24913974288c86057c43f
The long-wavelength-sensitive (LWS) opsins form one of four classes of vertebrate cone visual pigment and exhibit peak spectral sensitivities (λ(max)) that generally range from 525 to 560 nm for rhodopsin/vitamin-A(1) photopigments. Unique amongst t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6bfc1dd9b236e4a037618180f1cf57
https://ora.ox.ac.uk/objects/uuid:43ba772c-b49e-4fad-8e23-c205dc32c821
https://ora.ox.ac.uk/objects/uuid:43ba772c-b49e-4fad-8e23-c205dc32c821
Autor:
Livia S. Carvalho, Wayne I. L. Davies, Susan E. Wilkie, David M. Hunt, Jill A. Cowing, Juliet W. L. Parry, James K. Bowmaker
Publikováno v:
Photochemistry and Photobiology. 83:303-310
Of the four classes of vertebrate cone visual pigments, the shortwave-sensitive SWS1 class shows some of the largest shifts in lambda(max), with values ranging in different species from 390-435 nm in the violet region of the spectrum to < 360 nm in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce1aff7c2da4a10b53d4cfa018dc8dac
https://doi.org/10.1562/2006-06-27-ir-952
https://doi.org/10.1562/2006-06-27-ir-952
Autor:
Michael E. Weale, David M. Hunt, David Goldstein, Anna C. Need, Piers Ruddle, Curtis Gumbs, Anthony T. Moore, Susan E. Wilkie, Sarah E. Harris, Ian J. Deary, John M. Starr, Nicole M. Walley, Lawrence J. Whalley, Michel Michaelides, Dianne Gerrelli, Sanjay M. Sisodiya, Pamela J. Thompson, Samantha L. Free
Publikováno v:
Journal of Medical Genetics. 44:373-380
Background: The genetic basis of variation in human cognitive abilities is poorly understood. RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly redu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ceb0cd329e97f54e0696b2f84955cb
https://doi.org/10.1136/jmg.2006.047407
https://doi.org/10.1136/jmg.2006.047407
Publikováno v:
Biochemistry. 45:7307-7313
Vertebrate opsins are classified into one of five classes on the basis of amino acid similarity. These classes are short wavelength sensitive 1 and 2 (SWS1, SWS2), medium/long wavelength sensitive (M/LWS), and rod opsin like 1 and 2 (RH1, RH2). In bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51234f9fa92eedb91047681d1df10825
https://doi.org/10.1021/bi060234g
https://doi.org/10.1021/bi060234g
Autor:
David M. Hunt, Shomi S. Bhattacharya, Victoria A. Gallon, Martin J. Warren, Melanie M. Sohocki, Susan E. Wilkie, Richard J. Newbold, Evelyne Deery
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1690(2):141-149
Mutations in AIPL1 are associated with Leber Congenital Amaurosis (LCA), a major cause of childhood blindness, yet the cellular function of the encoded protein has yet to be fully elucidated. In order to investigate the biochemistry of AIPL1, we have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff14495226cf725bef5262c4327c8269
Autor:
David M. Hunt, Susan E. Wilkie, Juliet W. L. Parry, James K. Bowmaker, Jill A. Cowing, Subathra Poopalasundaram
Publikováno v:
Photochemical & Photobiological Sciences. 3:713-720
Of the four classes of vertebrate cone visual pigments, the shortwave-sensitive SWS1 class shows the shortest lambda(max) values with peaks in different species in either the violet (390-435 nm) or ultraviolet (around 365 nm) regions of the spectrum.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983a9912695cb4f9152bdd761b7d0907
https://doi.org/10.1039/b314693f
https://doi.org/10.1039/b314693f
Autor:
Alison J. Hardcastle, Anthony T. Moore, Reshma Patel, Susan E. Wilkie, Stephanie Halford, Alex G. Morris, Kang Zhang, David M. Hunt, Samantha Johnson
Publikováno v:
Genomics. 81:304-314
A mutation has been identified in the Rab3A-interacting molecule (RIM,l) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A point mutation results in an Arg844His substitution in the C,A domain of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5b26bba43d2c99c75b6ff3be588200
https://doi.org/10.1016/s0888-7543(03)00010-7
https://doi.org/10.1016/s0888-7543(03)00010-7
Autor:
Subathra Poopalasundaram, Susan E. Wilkie, James K. Bowmaker, Phyllis R. Robinson, Jill A. Cowing, David M. Hunt
Publikováno v:
Biochemical Journal. 367:129-135
The short-wave-sensitive (SWS) visual pigments of vertebrate cone photoreceptors are divided into two classes on the basis of molecular identity, SWS1 and SWS2. Only the SWS1 class are present in mammals. The SWS1 pigments can be further subdivided i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e74ddefe03784b31c6ad55ec2389f62
https://doi.org/10.1042/bj20020483
https://doi.org/10.1042/bj20020483
Spectral Tuning and Evolution of Short Wave-Sensitive Cone Pigments in Cottoid Fish from Lake Baikal
Publikováno v:
Biochemistry. 41:6019-6025
The cottoid fishes of Lake Baikal in eastern Siberia provide a unique opportunity to study the evolution of visual pigments in a group of closely related species exposed to different photic environments. Members of this species flock are adapted to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7a7896c08d306c715bd4c259a12969
https://doi.org/10.1021/bi025656e
https://doi.org/10.1021/bi025656e