Results 21 to 30 of about 2,008 (179)

A study of candidate genes for day blindness in the standard wire haired dachshund [PDF]

BMC Veterinary Research, 2008
Background A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were ...
Lingaas Frode, Bjerkås Ellen, Ropstad Ernst-Otto, Wiik Anne   +3 more
doaj   +4 more sources

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis [PDF]

Frontiers in Molecular Neuroscience, 2018
Over 100 mutations in GUCY2D that encodes the photoreceptor guanylate cyclase GC-E are known to cause two major diseases: autosomal recessive Leber congenital amaurosis (arLCA) or autosomal dominant cone-rod dystrophy (adCRD) with a poorly understood ...
Hanna Wimberg, Dorit Lev, Dorit Lev, Keren Yosovich, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch   +8 more
doaj   +5 more sources

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. [PDF]

PLoS ONE, 2011
BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore,
Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J Fielding Hejtmancik   +8 more
doaj   +5 more sources

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene [PDF]

Ophthalmology Retina, 2022
OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene, and to identify potential clinical endpoints and optimal patient selection for future therapeutic trials.
Akyol, Engin, Al-Khuzaei, Saoud, Almushattat, Hind, Bergen, Arthur A, Boon, Camiel JF, de Baere, Elfride, de Carvalho, Emanuel R, de Zaeytijd, Julie, Downes, Susan M, Florijn, Ralph J, Georgiou, Michalis, Hahn, Leo C, Hoyng, Carel B, Ingeborgh van den Born, L, Klaver, Caroline CW, Leroy, Bart P, Lissenberg-Witte, Birgit I, Lotery, Andrew J, McKibbin, Martin, Meester-Smoor, Magda A, Michaelides, Michel, Mukherjee, Rajarshi, Norel, Jeannette Ossewaarde-van, Strubbe, Ine, Ten Brink, Jacoline B, Thiadens, Alberta AHJ, van Cauwenbergh, Caroline, van Genderen, Maria M, van Schooneveld, Mary J, Walraedt, Sophie, Wesseling, Nieneke L   +30 more
core   +8 more sources

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Abstract Purpose To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers. Methods Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR.   +6 more
europepmc   +3 more sources

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations [PDF]

iScience
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +2 more sources

Gucy2d selectively marks inhibitory dynorphin neurons in the spinal dorsal horn but is dispensable for pain and itch sensitivity

PAIN Reports, 2021
. Introduction:. Inhibitory neurons in the spinal dorsal horn can be classified based on expression of neurochemical marker genes. However, these marker genes are often expressed throughout the central nervous system, which poses challenges for ...
Elizabeth K. Serafin, Robert Burns, Judy Yoo, Mark L. Baccei   +3 more
doaj   +1 more source

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.

PLoS ONE, 2022
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to ...
Luigi Donato, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Angela Dascola, Alessandro Calamuneri, Rosalia D'Angelo, Antonina Sidoti   +7 more
doaj   +2 more sources

Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Egyptian Journal of Medical Human Genetics, 2022
Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life.
Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +2 more
doaj   +1 more source

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype [PDF]

Human Mutation, 2005
Patients carrying mutations in the retinal guanylate cyclase (GUCY2D) gene were reported to be constantly affected with a particular form of Leber congenital amaurosis (LCA) defined as a "congenital stationary cone-rod dystrophy with high hypermetropia, panretinal degeneration and highly reduced visual acuity". We report here, the study of two patients
Isabelle, Perrault, Sylvain, Hanein, Sylvie, Gerber, Beatrice, Lebail, Patrice, Vlajnik, Fabienne, Barbet, Dominique, Ducroq, Jean-Louis, Dufier, Arnold, Munnich, Josseline, Kaplan, Jean-Michel, Rozet   +10 more
openaire   +2 more sources