Associated Papers
Dynamic Inner Blood Retina Barrier Disruption in Retinitis Pigmentosa.
Byrne K et al.
Investigative Ophthalmology & Visual Science, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 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
The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
Aísa-Marín I et al.
International Journal of Molecular Sciences, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches.
Schöneberg T et al.
Pharmacological Reviews, 2021
Multi-scale simulation reveals that an amino acid substitution increases photosensitizing reaction inputs in Rhodopsins.
Hernández-Rodríguez EW et al.
Journal of Computational Chemistry, 2020
Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site.
Riedmayr LM et al.
Human Molecular Genetics, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
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
Understanding rhodopsin mutations linked to the retinitis pigmentosa disease: a QM/MM and DFT/MRCI study.
Hernández-Rodríguez EW et al.
The Journal of Physical Chemistry. B, 2012
Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
Maubaret C 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
An unusual retinal phenotype associated with a novel mutation in RHO.
Audo I et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I et al.
Investigative Ophthalmology & Visual Science, 2010
Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.
Hagemann IS et al.
Vision Research, 2006
[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
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Strategems in vitro for gene therapies directed to dominant mutations.
Millington-Ward S et al.
Human Molecular Genetics, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Structural coupling of 11-cis-7-methyl-retinal and amino acids at the ligand binding pocket of rhodopsin.
Aguilà M et al.
Photochemistry and Photobiology, 0