Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L46R
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RHO

NM_000539.3:p.L46R

Associated Papers

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.

Amaral RAS et al.

Experimental Biology and Medicine (maywood, N.j.), 2026

Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.

Hang C et al.

American Journal of Ophthalmology, 2025

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

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.

Sakai D et al.

Japanese Journal of Ophthalmology, 2023

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

Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.

Felline A et al.

Computational and Structural Biotechnology Journal, 2021

34849206 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.

Behnen P et al.

Iscience, 2018

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

Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

Rakoczy EP et al.

Journal of Molecular Biology, 2011

[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

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Abnormalities of the retinal cone system in retinitis pigmentosa.

Hood DC et al.

Vision Research, 1996

Phototransduction in human cones measured using the alpha-wave of the ERG.

Hood DC et al.

Vision Research, 1995

Metabolism of omega-3 fatty acids in patients with autosomal dominant retinitis pigmentosa.

Hoffman DR et al.

Experimental Eye Research, 1995

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.

Rodriguez JA et al.

Human Mutation, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."