Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
about
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletionInhibition of the Pim1 oncogene results in diminished visual function.Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyLeber congenital amaurosis: a genetic paradigm.Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.A novel GUCY2D mutation in a Chinese family with dominant cone dystrophyGraft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interactionGenome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A geneA detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.GCAP1 mutations associated with autosomal dominant cone dystrophyMutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.Characterization of a novel signal transducer element intrinsic to class IIIa/b adenylate cyclases and guanylate cyclases.Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.GUCY2D Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
P2860
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P2860
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年学术文章
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2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
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name
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@ast
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@en
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@nl
type
label
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@ast
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@en
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@nl
prefLabel
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@ast
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@en
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@nl
P2093
P356
P1476
Clustering and frequency of mu ...... dominant cone-rod dystrophies
@en
P2093
A G Morris
S M Downes
S S Bhattacharya
P304
P356
10.1136/JMG.38.9.611
P407
P577
2001-09-01T00:00:00Z