Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G51V
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RHO

NM_000539.3:p.G51V

Associated Papers

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.

Loewen AD et al.

Investigative Ophthalmology & Visual Science, 2025

Active and inactive pathways in the kinetic mechanism of the G51V retinitis pigmentosa mutant photoreaction.

Szundi I et al.

Biophysical Journal, 2025

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Lynn J et al.

Genes, 2024

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_S1_LOVD.xlsx › LOVD_2022-04-19

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

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

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

Differential light-induced responses in sectorial inherited retinal degeneration.

Ramon E et al.

The Journal of Biological Chemistry, 2014

Constitutively active mutant gives novel insights into the mechanism of bitter taste receptor activation.

Pydi SP et al.

Journal of Neurochemistry, 2012

Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa.

Bosch-Presegué L et al.

The Febs Journal, 2011

Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment.

Talcott KE et al.

Investigative Ophthalmology & Visual Science, 2011

Examining rhodopsin retention in endoplasmic reticulum and intracellular localization in vitro and in vivo by using truncated rhodopsin fragments.

Chen YF et al.

Journal of Cellular Biochemistry, 2011

Structural insights into retinitis pigmentosa from unfolding simulations of rhodopsin mutants.

Fanelli F et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

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

Krebs MP et al.

Journal of Molecular Biology, 2010

Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.

Tsui I et al.

Current Eye Research, 2008

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

Duncan JL et al.

Investigative Ophthalmology & Visual Science, 2007

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 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 spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD et al.

Gene, 2004

Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain.

Bosch L et al.

The Journal of Biological Chemistry, 2003

Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.

Ueyama H et al.

Biochemical and Biophysical Research Communications, 2002

Rhodopsin trafficking and its role in retinal dystrophies.

Sung CH et al.

International Review of Cytology, 2000

Molecular biology of light transduction by the Mammalian photoreceptor, rhodopsin.

Khorana HG

Journal of Biomolecular Structure & Dynamics, 2000

Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

Hwa J et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.

Kaushal S et al.

Biochemistry, 1994

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.

Sung CH et al.

The Journal of Biological Chemistry, 1993

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.

Dryja TP

Eye (london, England), 1992

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Dryja TP et al.

Proceedings of the National Academy of Sciences of the United States of America, 1991

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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."