Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Ba-Abbad R et al.
Investigative Ophthalmology & Visual Science, 2025
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Wong WM et al.
Clinical & Experimental Ophthalmology, 2025
Phosphodiesterase 5 expression in photoreceptors rescues retinal degeneration induced by deregulation of membrane guanylyl cyclase.
Dizhoor AM et al.
The Journal of Biological Chemistry, 2025
De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review.
Fang XH et al.
International Journal of Ophthalmology, 2025
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6.
Mellen RW et al.
Molecular Therapy. Methods & Clinical Development, 2023
Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Gao Y et al.
Eye (london, England), 2023
cGMP Signaling in Photoreceptor Degeneration.
Li S et al.
International Journal of Molecular Sciences, 2023
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.
Neubauer J et al.
Genes, 2022
Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Peshenko IV et al.
The Journal of Biological Chemistry, 2021
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Peshenko IV et al.
The Journal of Biological Chemistry, 2020
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Sun Z et al.
Ophthalmic Genetics, 2020
Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.
Peshenko IV et al.
The Journal of Biological Chemistry, 2020
Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.
McCullough KT et al.
Human Gene Therapy, 2019
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.
Sato S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Long term follow-up of a family with GUCY2D dominant cone dystrophy.
Tsokolas G et al.
International Journal of Ophthalmology, 2018
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.
Dizhoor AM et al.
The Journal of Biological Chemistry, 2016
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
Zobor D et al.
Retina (philadelphia, Pa.), 2014
The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.
Zägel P et al.
Biochemistry, 2013
Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
Collery RF et al.
Experimental Eye Research, 2013
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.
Kostic C et al.
Plos One, 2013
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2012
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M et al.
Molecular Vision, 2011
Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6.
Kim BJ et al.
Retinal Cases & Brief Reports, 2011
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Xiao X et al.
Molecular Vision, 2011
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.
Peshenko IV et al.
Biochemistry, 2010
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
Smith M et al.
Eye (london, England), 2007
Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.
Hanein S et al.
Advances in Experimental Medicine and Biology, 2006
Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase. Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (RetGC-1).
Peshenko IV et al.
Biochemistry, 2004
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Ito S et al.
Investigative Ophthalmology & Visual Science, 2004
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
Udar N et al.
Human Mutation, 2003
Factors that affect regulation of cGMP synthesis in vertebrate photoreceptors and their genetic link to human retinal degeneration.
Olshevskaya EV et al.
Molecular and Cellular Biochemistry, 2002
Guanylate cyclase activating proteins, guanylate cyclase and disease.
Newbold RJ et al.
Advances in Experimental Medicine and Biology, 2002
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Bernstein PS et al.
Investigative Ophthalmology & Visual Science, 2001
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
Downes SM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2001
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
Payne AM et al.
Journal of Medical Genetics, 2001
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
Wilkie SE et al.
Human Molecular Genetics, 2000
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
Van Ghelue M et al.
Ophthalmic Genetics, 2000
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
Gregory-Evans K et al.
Ophthalmology, 2000
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.
Ito S et al.
Japanese Journal of Ophthalmology, 0
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0