Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1
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
35850308 (PubMed )
Supplement: mmc1.pdf
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1
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
28715844 (PubMed )
Supplement: iovs-58-05-25_s02.pdf
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
Yang G et al.
Molecular Vision, 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 spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.
Li S et al.
Biochemical and Biophysical Research Communications, 2010
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
Ando Y et al.
Molecular Vision, 2007
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Pang CP et al.
Human Mutation, 2002
Rhodopsin mutations in Chinese patients with retinitis pigmentosa.
Chan WM et al.
The British Journal of Ophthalmology, 2001
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
Macke JP et al.
American Journal of Human Genetics, 1993
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