Associated Papers
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.
Allon G et al.
Investigative Ophthalmology & Visual Science, 2025
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M et al.
Progress in Retinal and Eye Research, 2024
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
Mahroo OA et al.
Jama Ophthalmology, 2020
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E et al.
International Journal of Molecular Sciences, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Gill JS et al.
The British Journal of Ophthalmology, 2019
Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
Tang S et al.
Molecular Vision, 2019
Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina.
López-Begines S et al.
Scientific Reports, 2018
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Ezquerra-Inchausti M et al.
Scientific Reports, 2017
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
Shankar SP et al.
Investigative Ophthalmology & Visual Science, 2016
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Marino V et al.
Human Molecular Genetics, 2015
The current status of molecular diagnosis of inherited retinal dystrophies.
Chiang JP et al.
Current Opinion in Ophthalmology, 2015
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.
Huang L et al.
Neuroscience Letters, 2013
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K et al.
Biomed Research International, 2013
Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
Behnen P et al.
Biological Chemistry, 2010
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Kitiratschky VB et al.
Human Mutation, 2009
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
Jiang L et al.
Vision Research, 2008
Guanylate cyclase-activating proteins and retina disease.
Baehr W et al.
Sub-cellular Biochemistry, 2007
The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.
Stephen R et al.
Journal of Molecular Biology, 2006
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
Castori M et al.
Investigative Ophthalmology & Visual Science, 2005
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
Michaelides M et al.
Ophthalmology, 2005
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
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
Sato M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2005
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
Jiang L et al.
Molecular Vision, 2005
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
Nishiguchi KM et al.
Investigative Ophthalmology & Visual Science, 2004
Guanylate cyclase-activating proteins: structure, function, and diversity.
Palczewski K et al.
Biochemical and Biophysical Research Communications, 2004
Retinal diseases linked with photoreceptor guanylate cyclase.
Duda T 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
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
Wilkie SE et al.
American Journal of Human Genetics, 2001
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
Newbold RJ et al.
Human Molecular Genetics, 2001
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Downes SM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2001
Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).
Sokal I et al.
Biochimica Et Biophysica Acta, 2000
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0
The coexistence of age-related macular degeneration and retinitis pigmentosa in three unrelated families.
Sarraf D et al.
Seminars in Ophthalmology, 0