Associated Papers
A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review.
Wu PL et al.
American Journal of Ophthalmology Case Reports, 2024
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.
Neubauer J et al.
Genes, 2022
A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.
Naggert ASEN et al.
Frontiers in Molecular Neuroscience, 2022
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Sun Z et al.
Ophthalmic Genetics, 2020
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation.
Vercellino I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Animal modelling for inherited central vision loss.
Kostic C et al.
The Journal of Pathology, 2016
The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.
Zägel P et al.
Biochemistry, 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
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
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
Karan S et al.
Molecular and Cellular Biochemistry, 2010
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Jiang L et al.
Advances in Experimental Medicine and Biology, 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
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I et al.
Investigative Ophthalmology & Visual Science, 2005
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Ito S et al.
Investigative Ophthalmology & Visual Science, 2004
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
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Kelsell RE et al.
Human Molecular Genetics, 1998
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