Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 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
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 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
Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.
Vats A et al.
Jci Insight, 2022
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
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.
Felline A et al.
Computational and Structural Biotechnology Journal, 2021
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Sector Retinitis Pigmentosa caused by mutations of the RHO gene.
Xiao T et al.
Eye (london, England), 2019
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
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Fernandez-San Jose P et al.
Acta Ophthalmologica, 2015
Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.
Napier ML et al.
Ophthalmic Genetics, 2015
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C et al.
Bmc Genetics, 2014
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Shah SP et al.
Ophthalmic Genetics, 2014
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO et al.
Genetics and Molecular Research : Gmr, 2014
Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
McKeone R et al.
Molecular Vision, 2014
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision, 2012
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
Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.
Felline A et al.
Journal of Chemical Theory and Computation, 2009
[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
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.
Colley NJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.
Sung CH et al.
The Journal of Biological Chemistry, 1993
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Dryja TP
Eye (london, England), 1992