Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
about
Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinolCharacterization of a novel type of human microsomal 3alpha -hydroxysteroid dehydrogenase: unique tissue distribution and catalytic propertiesComparative functional analysis of human medium-chain dehydrogenases, short-chain dehydrogenases/reductases and aldo-keto reductases with retinoidsDual-substrate specificity short chain retinol dehydrogenases from the vertebrate retinaExtreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.Stimulation of retinoic acid production and growth by ubiquitously expressed alcohol dehydrogenase Adh3Clinical applications of fundus autofluorescence in retinal diseaseMolecular Basis for Vitamin A Uptake and Storage in VertebratesRetinol Dehydrogenases Regulate Vitamin A Metabolism for Visual FunctionFundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsinBiosynthesis of 9-cis-retinoic acid in vivo. The roles of different retinol dehydrogenases and a structure-activity analysis of microsomal retinol dehydrogenasesVMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE familyMembrane-binding and enzymatic properties of RPE65Chemistry of the retinoid (visual) cycleRetinal dystrophies caused by mutations in RPE65: assessment of visual functionsIsomerization 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.Localizations of visual cycle components in retinal pigment epitheliumFunctional characterization of mouse RDH11 as a retinol dehydrogenase involved in dark adaptation in vivoA study of candidate genes for day blindness in the standard wire haired dachshundAbundant lipid and protein components of drusenProteomic profiling of human intraschisis cavity fluidDistinct retinoid metabolic functions for alcohol dehydrogenase genes Adh1 and Adh4 in protection against vitamin A toxicity or deficiency revealed in double null mutant miceInhibition 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.Families of retinoid dehydrogenases regulating vitamin A function: production of visual pigment and retinoic acid.Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters.The retinal pigment epithelium in health and diseaseMutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.Clinical features of a Japanese case with Bothnia dystrophy.Retinal degeneration in animal models with a defective visual cycle.Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatusDelayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo.Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Understanding retinol metabolism: structure and function of retinol dehydrogenases.Evaluation of the role of the retinal G protein-coupled receptor (RGR) in the vertebrate retina in vivo.Stereoisomeric specificity of the retinoid cycle in the vertebrate retina.
P2860
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P2860
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
description
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1999
@ast
im Juni 1999 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1999/06/01)
@sk
vědecký článek publikovaný v roce 1999
@cs
wetenschappelijk artikel (gepubliceerd op 1999/06/01)
@nl
наукова стаття, опублікована в червні 1999
@uk
name
Mutations in the gene encoding ...... ation and fundus albipunctatus
@ast
Mutations in the gene encoding ...... ation and fundus albipunctatus
@en
Mutations in the gene encoding ...... ation and fundus albipunctatus
@nl
type
label
Mutations in the gene encoding ...... ation and fundus albipunctatus
@ast
Mutations in the gene encoding ...... ation and fundus albipunctatus
@en
Mutations in the gene encoding ...... ation and fundus albipunctatus
@nl
prefLabel
Mutations in the gene encoding ...... ation and fundus albipunctatus
@ast
Mutations in the gene encoding ...... ation and fundus albipunctatus
@en
Mutations in the gene encoding ...... ation and fundus albipunctatus
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the gene encoding ...... ation and fundus albipunctatus
@en
P2093
E. L. Berson
H. Yamamoto
T. P. Dryja
U. Eriksson
P2888
P304
P3181
P356
10.1038/9707
P407
P50
P577
1999-06-01T00:00:00Z
P6179
1030995264