Associated Papers
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
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
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.
Scott BM et al.
Genetics, 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
Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.
Froebel BR et al.
Investigative Ophthalmology & Visual Science, 2017
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Athanasiou D et al.
Human Molecular Genetics, 2014
Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.
Liu MY et al.
The Journal of Biological Chemistry, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].
Wang DY et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Gene mutations in retinitis pigmentosa and their clinical implications.
Wang DY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.
Padrón-García JA et al.
Proteins, 2004
The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.
Briscoe AD et al.
Gene, 2004
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.
Dikshit M et al.
Journal of Genetics, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.
Hwa J et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
Millá E et al.
Ophthalmic Genetics, 1998
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.
Kremmer S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 1997
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
Fuchs S et al.
Human Molecular Genetics, 1994