Associated Papers
Differential effects of HDAC inhibitors in the RhoI255d mouse model for autosomal dominant retinitis pigmentosa.
Zhu Y et al.
Cell Death Discovery, 2025
Lipid nanoparticle mediated base editing of the Q344X rhodopsin mutation associated with retinitis pigmentosa.
Palmgren VAC et al.
Gene Therapy, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Leung A et al.
Molecular Therapy. Nucleic Acids, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 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.
Human Molecular Genetics, 2025
Retinal photoreceptor cilia and ciliopathies: Molecular mechanisms and therapeutic strategies.
Li L et al.
Seminars in Cell & Developmental Biology, 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
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
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
Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies.
Azam M et al.
Cells, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 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
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.
Dorgau B et al.
Nature Communications, 2024
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
Zhuang J et al.
Ophthalmic Genetics, 2024
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
The role of motor proteins in photoreceptor protein transport and visual function.
Radhakrishnan R et al.
Ophthalmic Genetics, 2022
Loss of αA or αB-Crystallin Accelerates Photoreceptor Cell Death in a Mouse Model of P23H Autosomal Dominant Retinitis Pigmentosa.
Wang T et al.
International Journal of Molecular Sciences, 2021
Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator.
Ortega JT et al.
Pharmaceutics, 2021
Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Liu W et al.
Bmc Ophthalmology, 2021
Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa.
Hollingsworth TJ et al.
Biomolecules, 2021
Drug screening with zebrafish visual behavior identifies carvedilol as a potential treatment for an autosomal dominant form of retinitis pigmentosa.
Ganzen L 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
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy.
Hollingsworth TJ et al.
Cells, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Autosomal dominant retinitis pigmentosa rhodopsin mutant Q344X drives specific alterations in chromatin complex gene transcription.
Bales KL et al.
Molecular Vision, 2018
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2016
Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.
Roman-Sanchez R et al.
Experimental Eye Research, 2016
Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Matsui R et al.
Investigative Ophthalmology & Visual Science, 2015
Nucleotide bound to rab11a controls localization in rod cells but not interaction with rhodopsin.
Reish NJ 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
Abrupt onset of mutations in a developmentally regulated gene during terminal differentiation of post-mitotic photoreceptor neurons in mice.
Sandoval IM et al.
Plos One, 2014
The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.
Hollingsworth TJ et al.
The Journal of Biological Chemistry, 2013
The role of mislocalized phototransduction in photoreceptor cell death of retinitis pigmentosa.
Nakao T et al.
Plos One, 2012
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I et al.
Investigative Ophthalmology & Visual Science, 2010
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
Mokarzel-Falcón L et al.
Proteins, 2008
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.
Iannaccone A et al.
Vision Research, 2006
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Schuster A et al.
The British Journal of Ophthalmology, 2005
A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.
Zhang XL et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2005
[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
A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa.
Yong RY et al.
Annals of the Academy of Medicine, Singapore, 2005
The eye photoreceptor protein rhodopsin. Structural implications for retinal disease.
Garriga P et al.
Febs Letters, 2002