Associated Papers
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
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
Dimeric Rhodopsin R135L Mutant-Transducin-like Complex Sheds Light on Retinitis Pigmentosa Misfunctions.
Guérin DMA et al.
The Journal of Physical Chemistry. B, 2021
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
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 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
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I et al.
Investigative Ophthalmology & Visual Science, 2010
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy.
Abdelmaksoud HE et al.
Experimental Eye Research, 2009
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
A preliminary report on a DNA-based screening method for retinitis pigmentosa. A trial on a west Australian population.
Rakoczy P et al.
Australian and New Zealand Journal of Ophthalmology, 1995
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Souied E et al.
Human Molecular Genetics, 1994
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
Fuchs S et al.
Human Molecular Genetics, 1994