Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2025
Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.
Vasudevan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Correction: A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration.
Vasudevan S et al.
Cell Death Discovery, 2025
A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration.
Vasudevan S et al.
Cell Death Discovery, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.
Massoudi D et al.
Investigative Ophthalmology & Visual Science, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 2023
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.
Vats A et al.
Jci Insight, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator.
Ortega JT et al.
Pharmaceutics, 2021
Structural aspects of rod opsin and their implication in genetic diseases.
Fanelli F et al.
Pflugers Archiv : European Journal of Physiology, 2021
ATF6 is required for efficient rhodopsin clearance and retinal homeostasis in the P23H rho retinitis pigmentosa mouse model.
Lee EJ et al.
Scientific Reports, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.
Behnen P et al.
Iscience, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
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
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
Yoon CK et al.
Bmc Genomics, 2015
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
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Fernandez-San Jose P et al.
Acta Ophthalmologica, 2015
The effects of IRE1, ATF6, and PERK signaling on adRP-linked rhodopsins.
Jerry Chiang WC et al.
Advances in Experimental Medicine and Biology, 2014
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
Yang G et al.
Molecular Vision, 2014
Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation.
Chiang WC et al.
Investigative Ophthalmology & Visual Science, 2012
IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.
Chiang WC et al.
Molecular Biology of the Cell, 2012
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision, 2012
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.
Kim KJ et al.
Molecular Vision, 2011
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010