11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus
about
Recent advances in the dark adaptation investigationsRetinol Dehydrogenases Regulate Vitamin A Metabolism for Visual FunctionIsomerization of 11-cis-retinoids to all-trans-retinoids in vitro and in vivo.Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy.The retinal pigment epithelium in health and diseaseexomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatusFundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Stereoisomeric specificity of the retinoid cycle in the vertebrate retina.New developments in the visual cycle: functional role of 11-cis retinyl esters in the retinal pigment epitheliumAdiponectin receptor 1 conserves docosahexaenoic acid and promotes photoreceptor cell survival.Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsRod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.Isomerization of all-trans-retinol to cis-retinols in bovine retinal pigment epithelial cells: dependence on the specificity of retinoid-binding proteins.Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPARDH5 oxidises 11cROL to 11cRALA Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.
P2860
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P2860
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@ast
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@en
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@nl
type
label
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@ast
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@en
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@nl
prefLabel
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@ast
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@en
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@nl
P2093
P1433
P1476
11-cis retinol dehydrogenase m ...... known as fundus albipunctatus
@en
P2093
B P Conway
F Gonzalez-Fernandez
P407
P577
1999-12-30T00:00:00Z