Associated Papers
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
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
Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Liu W et al.
Bmc Ophthalmology, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials.
Sumaroka A et al.
International Journal of Molecular Sciences, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific 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
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2016
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
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
González-del Pozo M et al.
Plos One, 2011
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
Mokarzel-Falcón L et al.
Proteins, 2008
[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
Rhodopsin trafficking and its role in retinal dystrophies.
Sung CH et al.
International Review of Cytology, 2000
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997