Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C110Y
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RHO

NM_000539.3:p.C110Y

Associated Papers

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

Pashandi Z et al.

International Journal of Molecular Sciences, 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_S1_LOVD.xlsx › LOVD_2022-04-19

Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.

Vats A et al.

Jci Insight, 2022

Structural aspects of rod opsin and their implication in genetic diseases.

Fanelli F et al.

Pflugers Archiv : European Journal of Physiology, 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

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S3_AD

Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.

Felline A et al.

Computational and Structural Biotechnology Journal, 2021

34849206 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Pharmacological clearance of misfolded rhodopsin for the treatment of RHO-associated retinitis pigmentosa.

Liu X et al.

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

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM et al.

Genetics, 2019

A Rhodopsin Transport Assay by High-Content Imaging Analysis.

Feng B et al.

Journal of Visualized Experiments : Jove, 2019

A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.

Behnen P et al.

Iscience, 2018

A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration.

Chen Y et al.

Nature Communications, 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

Mouse models of human ocular disease for translational research.

Krebs MP et al.

Plos One, 2017

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Athanasiou D et al.

Human Molecular Genetics, 2014

Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.

Liu MY et al.

The Journal of Biological Chemistry, 2013

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

Rakoczy EP et al.

Journal of Molecular Biology, 2011

Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.

Budzynski E et al.

The Journal of Biological Chemistry, 2010

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

Krebs MP et al.

Journal of Molecular Biology, 2010

Severe retinal degeneration caused by a novel rhodopsin mutation.

Liu H et al.

Investigative Ophthalmology & Visual Science, 2010

Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal.

Noorwez SM et al.

The Journal of Biological Chemistry, 2009

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

Rivolta C et al.

Molecular Vision, 2006

Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.

Hagemann IS et al.

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

Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.

Padrón-García JA et al.

Proteins, 2004

Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.

Hwa J et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Millá E et al.

Ophthalmic Genetics, 1998

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

Millá E et al.

Klinische Monatsblatter Fur Augenheilkunde, 1998

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

Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.

Pinto LH et al.

Visual Neuroscience, 0

[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."