Associated Papers
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.
Hang C et al.
American Journal of Ophthalmology, 2025
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
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
Small-Molecule Ligands of Rhodopsin and Their Therapeutic Potential in Retina Degeneration.
Pashandi Z et al.
International Journal of Molecular Sciences, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 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
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies.
Azam M et al.
Cells, 2025
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.
Scott BM et al.
Journal of Molecular Evolution, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
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
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.
Leong YC et al.
Advances in Experimental Medicine and Biology, 2023
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
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
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
Dimeric Rhodopsin R135L Mutant-Transducin-like Complex Sheds Light on Retinitis Pigmentosa Misfunctions.
Guérin DMA et al.
The Journal of Physical Chemistry. B, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Structural aspects of rod opsin and their implication in genetic diseases.
Fanelli F et al.
Pflugers Archiv : European Journal of Physiology, 2021
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z et al.
Bmc Medical Genomics, 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
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Pluripotent Stem Cells for the Treatment of Retinal Degeneration: Current Strategies and Future Directions.
Ikelle L et al.
Frontiers in Cell and Developmental Biology, 2020
SRD005825 Acts as a Pharmacologic Chaperone of Opsin and Promotes Survival of Photoreceptors in an Animal Model of Autosomal Dominant Retinitis Pigmentosa.
Ahmed CM et al.
Translational Vision Science & Technology, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019