Associated Papers
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
Hanany M et al.
Journal of Medical Genetics, 2019
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
Peshenko IV et al.
The Journal of Biological Chemistry, 2019
Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina.
López-Begines S et al.
Scientific Reports, 2018
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity.
Hoyo NL et al.
Plos Genetics, 2014
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
Kitiratschky VB et al.
Ophthalmic Genetics, 2011
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Guanylate cyclase-activating proteins and retina disease.
Baehr W et al.
Sub-cellular Biochemistry, 2007
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
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
Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
Avesani A et al.
The Journal of Biological Chemistry, 0