Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P347R
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RHO

NM_000539.3:p.P347R

Associated Papers

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.

Pennesi ME et al.

American Journal of Ophthalmology, 2026

Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.

Bhardwaj A et al.

Japanese 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

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.

Sather R et al.

International Journal of Molecular Sciences, 2023

37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Liu W et al.

Bmc Ophthalmology, 2021

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

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

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2016

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Bonilha VL et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015

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

Rakoczy EP et al.

Journal of Molecular Biology, 2011

In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.

Mokarzel-Falcón L et al.

Proteins, 2008

Transport of truncated rhodopsin and its effects on rod function and degeneration.

Lee ES et al.

Investigative Ophthalmology & Visual Science, 2007

A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity.

Deretic D

Vision Research, 2006

[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

The carboxyl-terminal domain is essential for rhodopsin transport in rod photoreceptors.

Concepcion F et al.

Vision Research, 2002

Rhodopsin trafficking and its role in retinal dystrophies.

Sung CH et al.

International Review of Cytology, 2000

Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

Deretic D et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment.

Sung CH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1994

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.

Dryja TP

Eye (london, England), 1992

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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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."