Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2019 at "International Ophthalmology"
DOI: 10.1007/s10792-019-01099-4
Abstract: PurposeRetinitis pigmentosa (RP) is the most common hereditary retinal degeneration and an important cause of visual disability worldwide. Rhodopsin gene is one of the most important genes implicated in autosomal dominant RP (ADRP). In this… read more here.
Keywords: pigmentosa; iranian patients; autosomal dominant; rhodopsin gene ... See more keywords
Effect of AAV-mediated rhodopsin gene augmentation on retinal degeneration caused by the dominant P23H rhodopsin mutation in a knock-in murine model.
Sign Up to like & getrecommendations! Published in 2020 at "Human gene therapy"
DOI: 10.1089/hum.2020.008
Abstract: Mutations in the rhodopsin gene may cause photoreceptor degeneration in autosomal dominant retinitis pigmentosa (ADRP) by dominant negative or toxic gain of function mechanisms. Controversy exists as to the mechanism by which the widely studied… read more here.
Keywords: rhodopsin; effect; model; rhodopsin gene ... See more keywords
A second visual rhodopsin gene, rh1-2, is expressed in zebrafish photoreceptors and found in other ray-finned fishes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Experimental Biology"
DOI: 10.1242/jeb.145953
Abstract: ABSTRACT Rhodopsin (rh1) is the visual pigment expressed in rod photoreceptors of vertebrates that is responsible for initiating the critical first step of dim-light vision. Rhodopsin is usually a single copy gene; however, we previously… read more here.
Keywords: visual rhodopsin; rhodopsin; pigment; rhodopsin gene ... See more keywords
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22042133
Abstract: Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one… read more here.
Keywords: phenotypes caused; stationary progressive; progressive phenotypes; rhodopsin gene ... See more keywords