Associated Papers
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_S3_gnomAD.xlsx › gnomAD_2022-04-19
Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.
Vats A et al.
Jci Insight, 2022
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
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
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 and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
Ando Y et al.
Molecular Vision, 2007
[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
[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region].
Khidiiatova IM et al.
Molekuliarnaia Biologiia, 0
[The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan].
Grinberg ER et al.
Molekuliarnaia Biologiia, 0
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