Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
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The linker region in receptor guanylyl cyclases is a key regulatory module: mutational analysis of guanylyl cyclase CRetinal dystrophies, genomic applications in diagnosis and prospects for therapyCurrent progress of genetically engineered pig models for biomedical researchRapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophyLocalization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian catsMolecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosisWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyNext-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis.Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking.ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY.Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaA novel GUCY2D mutation in a Chinese family with dominant cone dystrophyMutations in Tyr808 reveal a potential auto-inhibitory mechanism of guanylate cyclase-B regulation.Two siblings with late-onset cone-rod dystrophy and no visible macular degenerationGraft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interactionEvolution of vertebrate rod and cone phototransduction genes.Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.Progressive constriction of the hyperautofluorescent ring in retinitis pigmentosa.Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation.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.Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis
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Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 May 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutation analysis identifies G ...... progressive cone degeneration.
@en
Mutation analysis identifies G ...... progressive cone degeneration.
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type
label
Mutation analysis identifies G ...... progressive cone degeneration.
@en
Mutation analysis identifies G ...... progressive cone degeneration.
@nl
prefLabel
Mutation analysis identifies G ...... progressive cone degeneration.
@en
Mutation analysis identifies G ...... progressive cone degeneration.
@nl
P2093
P2860
P50
P356
P1476
Mutation analysis identifies G ...... progressive cone degeneration
@en
P2093
Agnes B Renner
Bernd Wissinger
Maria Vadalà
Robert Wilke
Ulrich Kellner
Veronique B D Kitiratschky
P2860
P304
P356
10.1167/IOVS.08-1901
P407
P577
2008-05-16T00:00:00Z