Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G90V
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RHO

NM_000539.3:p.G90V

Associated Papers

Molecular and functional characterization of the retinitis pigmentosa G90V mutation in a conformationally stabilized rhodopsin background.

Fernandez-Gonzalez P et al.

International Journal of Biological Macromolecules, 2025

Insights into rhodopsin molecular evolution from mice with "humanized" Phe-88 to Leu substitution.

Wang F et al.

Research Square, 2025

Small-Molecule Ligands of Rhodopsin and Their Therapeutic Potential in Retina Degeneration.

Pashandi Z et al.

International Journal of Molecular Sciences, 2025

Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.

Vasudevan S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.

Hu S et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.

Vasudevan S et al.

Biorxiv : the Preprint Server for Biology, 2025

Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.

Chai Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

Flavonoids improve the stability and function of P23H rhodopsin slowing down the progression of retinitis pigmentosa in mice.

Ortega JT et al.

Journal of Neuroscience Research, 2022

New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations.

Herrera-Hernández MG et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.

McKee AG et al.

The Journal of Biological Chemistry, 2021

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.

Kobal N et al.

International Journal of Molecular Sciences, 2021

Light Dynamics of the Retinal-Disease-Relevant G90D Bovine Rhodopsin Mutant.

Kubatova N et al.

Angewandte Chemie (international Ed. in English), 2020

Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.

Colozo AT et al.

Human Molecular Genetics, 2020

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

Docosahexaenoic acid phospholipid differentially modulates the conformation of G90V and N55K rhodopsin mutants associated with retinitis pigmentosa.

Dong X et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Phospholipid Bicelles Improve the Conformational Stability of Rhodopsin Mutants Associated with Retinitis Pigmentosa.

Dong X et al.

Biochemistry, 2015

Constitutively active rhodopsin and retinal disease.

Park PS

Advances in Pharmacology (san Diego, Calif.), 2014

Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.

Singhal A et al.

Embo Reports, 2013

Site-directed mutations and the polymorphic variant Ala160Thr in the human thromboxane receptor uncover a structural role for transmembrane helix 4.

Chakraborty R et al.

Plos One, 2012

Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.

Toledo D et al.

The Journal of Biological Chemistry, 2011

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

Bosch-Presegué L et al.

The Febs Journal, 2011

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

Rakoczy EP et al.

Journal of Molecular Biology, 2011

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J et al.

Investigative Ophthalmology & Visual Science, 2006

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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."