Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T4K
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RHO

NM_000539.3:p.T4K

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

Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.

Guarascio R et al.

Cell Death Discovery, 2025

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

Pashandi Z et al.

International Journal of Molecular Sciences, 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

Synchronized Photoactivation of T4K Rhodopsin Causes a Chromophore-Dependent Retinal Degeneration That Is Moderated by Interaction with Phototransduction Cascade Components.

Tam BM et al.

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

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

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

Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.

Narasimhan I et al.

European Journal of Ophthalmology, 2021

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

Kobal N et al.

International Journal of Molecular Sciences, 2021

Myriocin Effect on Tvrm4 Retina, an Autosomal Dominant Pattern of Retinitis Pigmentosa.

Piano I et al.

Frontiers in Neuroscience, 2020

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

Wan A et al.

Human Mutation, 2019

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

Scott BM et al.

Genetics, 2019

Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.

Cideciyan AV et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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

Behnen P et al.

Iscience, 2018

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

Targeted disruption of the endogenous zebrafish rhodopsin locus as models of rapid rod photoreceptor degeneration.

Zelinka CP et al.

Molecular Vision, 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

Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa.

Vent-Schmidt RYJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog.

Iwabe S et al.

Experimental Eye Research, 2016

A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.

Shah SP et al.

Ophthalmic Genetics, 2014

Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Endoplasmic reticulum microenvironment and conserved histidines govern ELOVL4 fatty acid elongase activity.

Logan S et al.

Journal of Lipid Research, 2014

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

McKeone R et al.

Molecular Vision, 2014

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Katagiri S et al.

Journal of Ophthalmology, 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

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

Rakoczy EP et al.

Journal of Molecular Biology, 2011

The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Naturally occurring animal models with outer retina phenotypes.

Baehr W et al.

Vision Research, 2009

Rhodopsin: the functional significance of asn-linked glycosylation and other post-translational modifications.

Murray AR et al.

Ophthalmic Genetics, 2009

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Light and inherited retinal degeneration.

Paskowitz DM et al.

The British Journal of Ophthalmology, 2006

Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.

Tang CM et al.

Expert Opinion on Therapeutic Targets, 2005

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and stability of the G protein-coupled receptor.

Zhu L et al.

The Journal of Biological Chemistry, 2004

Role of asparagine-linked oligosaccharides in rhodopsin maturation and association with its molecular chaperone, NinaA.

Webel R et al.

The Journal of Biological Chemistry, 2000

Structure and function in rhodopsin. Requirements of a specific structure for the intradiscal domain.

Anukanth A et al.

The Journal of Biological Chemistry, 1994

Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.

van den Born LI et al.

Ophthalmic Genetics, 1994

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

Kaushal S et al.

Biochemistry, 1994

Structure and function in rhodopsin: the role of asparagine-linked glycosylation.

Kaushal S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1994

Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

Bunge S et al.

Genomics, 1993

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