RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
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Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsA novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitroHuman cone photoreceptor dependence on RPE65 isomeraseSequencing and comparative genomic analysis of 1227 Felis catus cDNA sequences enriched for developmental, clinical and nutritional phenotypes.Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyPseudo-fovea formation after gene therapy for RPE65-LCA.Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelInner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutationsHistopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.RDH12 retinopathy: novel mutations and phenotypic description.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsRetinal Changes in an ATP-Induced Model of Retinal Degeneration.Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.Rdh12 activity and effects on retinoid processing in the murine retina.Insights gained from gene therapy in animal models of retGC1 deficiency.Leber congenital amaurosis caused by mutations in GUCY2D.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.Retinal optogenetic therapies: clinical criteria for candidacy.Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
P2860
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P2860
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@ast
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@en
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@nl
type
label
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@ast
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@en
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@nl
prefLabel
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@ast
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@en
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@nl
P2093
P50
P356
P1476
RDH12 and RPE65, visual cycle ...... differ in disease expression.
@en
P2093
Alejandro J Roman
Alexander Sumaroka
Artur V Cideciyan
Debra A Thompson
Elizabeth A M Windsor
Sharon B Schwartz
Tomas S Aleman
P304
P356
10.1167/IOVS.06-0599
P407
P577
2007-01-01T00:00:00Z