Associated Papers
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.
Hang C et al.
American Journal of Ophthalmology, 2025
Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.
Vasudevan S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
Hu S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.
Vasudevan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
Chai Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.
Roushar FJ et al.
The Journal of Biological Chemistry, 2022
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N et al.
International Journal of Molecular Sciences, 2021
Disruption of Hydrogen-Bond Network in Rhodopsin Mutations Cause Night Blindness.
Katayama K et al.
Journal of Molecular Biology, 2020
A Conserved Proline Hinge Mediates Helix Dynamics and Activation of Rhodopsin.
Pope AL et al.
Structure (london, England : 1993), 2020
Light Dynamics of the Retinal-Disease-Relevant G90D Bovine Rhodopsin Mutant.
Kubatova N et al.
Angewandte Chemie (international Ed. in English), 2020
Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
Colozo AT et al.
Human Molecular Genetics, 2020
Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.
Penn WD et al.
Science Advances, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.
Wu Y et al.
Bioscience Reports, 2019
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D et al.
Progress in Retinal and Eye Research, 2018
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff C et al.
Scientific Reports, 2016
Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.
Singhal A et al.
Embo Reports, 2016
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.
Nash BM et al.
Translational Pediatrics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
Veleri S et al.
Disease Models & Mechanisms, 2015
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Constitutively active rhodopsin and retinal disease.
Park PS
Advances in Pharmacology (san Diego, Calif.), 2014
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal A et al.
Embo Reports, 2013
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.
Budzynski E et al.
The Journal of Biological Chemistry, 2010
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
1 rhodopsin mutations in congenital night blindness.
McAlear SD et al.
Advances in Experimental Medicine and Biology, 2010
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2008