Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
about
Functional roles of bestrophins in ocular epitheliaIn Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone PhotoreceptorsCone structure in retinal degeneration associated with mutations in the peripherin/RDS genePrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesMorphological and functional analyses of adult onset vitelliform macular dystrophyUncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects.Genes and mutations causing retinitis pigmentosa.Bestrophin 1 and retinal disease.Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.The genetics of inherited macular dystrophies.Identifying retinal disease genes: how far have we come, how far do we have to go?Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.Characterization of peripherin/rds and rom-1 transport in rod photoreceptors of transgenic and knockout animalsDeletional analysis of the rod photoreceptor cell peripherin/RDS carboxy-terminal regionMutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures.Multimodal imaging of adult-onset foveomacular vitelliform dystrophy.The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States.Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
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P2860
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@nl
type
label
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@nl
prefLabel
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@ast
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@nl
P2093
P1433
P1476
Adult vitelliform macular dyst ...... ons in the peripherin/RDS gene
@en
P2093
P356
10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.3.CO;2-Y
P407
P577
1997-01-01T00:00:00Z