Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T4R
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RHO

NM_000539.3:p.T4R

Associated Papers

Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa.

Takita S et al.

Human Molecular Genetics, 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

Metabolic stress and early cell death in photoreceptor precursor cells following retinal transplantation.

Sudharsan R et al.

Stem Cell Research & Therapy, 2025

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Canine models of inherited retinal diseases: from neglect to well-recognized translational value.

Dufour VL et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025

Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa.

Takita S et al.

Biorxiv : the Preprint Server for Biology, 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

Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock-in mouse model.

Takita S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Binocular benefit following monocular subretinal AAV injection in a mouse model of autosomal dominant retinitis pigmentosa (adRP).

Ahmed CM et al.

Vision Research, 2023

Mechanism of Cone Degeneration in Retinitis Pigmentosa.

Song DJ et al.

Cellular and Molecular Neurobiology, 2023

Neural and Müller glial adaptation of the retina to photoreceptor degeneration.

Leinonen HO et al.

Neural Regeneration Research, 2023

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

Zhen F et al.

Frontiers in Neuroscience, 2023

Gene Therapy for Rhodopsin Mutations.

Lewin AS et al.

Cold Spring Harbor Perspectives in Medicine, 2022

Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.

Massengill MT et al.

International Ophthalmology Clinics, 2021

Response to Comment on: Sector retinitis pigmentosa caused by mutations of the RHO gene.

Xiao T et al.

Eye (london, England), 2020

Comment on: 'Sector retinitis pigmentosa caused by mutations of the RHO gene'.

Orlans HO et al.

Eye (london, England), 2020

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

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.

Cideciyan AV et al.

Scientific Reports, 2020

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.

Ramachandra Rao S et al.

Iscience, 2020

Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation.

Orlans HO et al.

Investigative Ophthalmology & Visual Science, 2019

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Bunel M et al.

Human Genetics, 2019

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

Progress in Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa.

Sudharsan R et al.

Advances in Experimental Medicine and Biology, 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 novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration.

Chen Y et al.

Nature Communications, 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

Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse.

Gargini C et al.

Scientific Reports, 2017

Mouse models of human ocular disease for translational research.

Krebs MP et al.

Plos One, 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

South American Weakly Electric Fish (Gymnotiformes) Are Long-Wavelength-Sensitive Cone Monochromats.

Liu DW et al.

Brain, Behavior and Evolution, 2016

Glycosylation of rhodopsin is necessary for its stability and incorporation into photoreceptor outer segment discs.

Murray AR et al.

Human Molecular Genetics, 2015

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

Gene augmentation for adRP mutations in RHO.

Lewin AS et al.

Cold Spring Harbor Perspectives in Medicine, 2014

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

McKeone R et al.

Molecular Vision, 2014

The genetics of eye disorders in the dog.

Mellersh CS

Canine Genetics and Epidemiology, 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

Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.

Zhang N et al.

The Journal of Clinical Investigation, 2013

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Miyadera K et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012

ER stress in retinal degeneration: a target for rational therapy?

Griciuc A et al.

Trends in Molecular Medicine, 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

Recent insights into the mechanisms underlying light-dependent retinal degeneration from X. laevis models of retinitis pigmentosa.

Moritz OL et al.

Advances in Experimental Medicine and Biology, 2010

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

Progressive retinal atrophy in the Border Collie: a new XLPRA.

Vilboux T et al.

Bmc Veterinary Research, 2008

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.

Iannaccone A et al.

Vision Research, 2006

Light and inherited retinal degeneration.

Paskowitz DM et al.

The British Journal of Ophthalmology, 2006

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