Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P23A
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RHO

NM_000539.3:p.P23A

Associated Papers

Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.

Ortega JT et al.

Plos Biology, 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

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_S4_guideRNAs.xlsx › Sheet1

Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.

Patrizi C et al.

American Journal of Human Genetics, 2021

33508235 (PubMed )
Supplement: mmc3.xlsx › 57_variants_of_RHO_asso_to_RP4

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

Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Xiao T et al.

Eye (london, England), 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

Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.

McKeone R et al.

Molecular Vision, 2014

Retinitis pigmentosa mutants provide insight into the role of the N-terminal cap in rhodopsin folding, structure, and function.

Opefi CA et al.

The Journal of Biological Chemistry, 2013

Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.

Krebs MP et al.

Journal of Molecular Biology, 2010

Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa.

Galy A et al.

Human Molecular Genetics, 2005

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.

Oh KT et al.

The British Journal of Ophthalmology, 2004

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.

Oh KT et al.

American Journal of Ophthalmology, 2003

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.

Oh KT et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2000

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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."