Associated Papers
The dark and bright sides of retinal G protein-coupled receptor (RGR) in vision and disease.
Ruddin G et al.
Progress in Retinal and Eye Research, 2025
Identification and functional assays of single-nucleotide variants of opsins genes in melanocytic tumors.
Zhang W et al.
Pigment Cell & Melanoma Research, 2022
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
Mermeklieva E et al.
Ophthalmic Genetics, 2021
Retinoids in the visual cycle: role of the retinal G protein-coupled receptor.
Choi EH et al.
Journal of Lipid Research, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti M et al.
Scientific Reports, 2018
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.
Schuerch K et al.
Retina (philadelphia, Pa.), 2016
RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.
Li J et al.
Molecular Medicine Reports, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2016
Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations.
Daiger SP
Investigative Ophthalmology & Visual Science, 2016
Targeting of exon VI-skipping human RGR-opsin to the plasma membrane of pigment epithelium and co-localization with terminal complement complex C5b-9.
Kochounian H et al.
Molecular Vision, 2016
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
Sujirakul T et al.
American Journal of Ophthalmology, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW et al.
Investigative Ophthalmology & Visual Science, 2011
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
Ksantini M et al.
Ophthalmic Genetics, 2010
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
Saiki S et al.
Neurology, 2003
Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina.
McBee JK et al.
Progress in Retinal and Eye Research, 2001
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
Morimura H et al.
Nature Genetics, 1999
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP et al.
Ophthalmic Genetics, 0