Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R69H
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RHO

NM_000539.3:p.R69H

Associated Papers

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

Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.

Wang Y et al.

Bmc Ophthalmology, 2021

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

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

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.

Datta R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Molecular interaction of a potent nonpeptide agonist with the chemokine receptor CCR8.

Jensen PC et al.

Molecular Pharmacology, 2007

Point mutations in bovine opsin can be classified in four groups with respect to their effect on the biosynthetic pathway of opsin.

DeCaluwé GL et al.

The Biochemical Journal, 1996

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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."