Associated Papers
A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.
Wang P et al.
Genome 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
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.
de Freitas Cenachi SP et al.
Molecular Vision, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E et al.
Genes, 2024
Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.
Sechrest ER et al.
Jci Insight, 2024
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
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
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
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
Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy.
Deng WT et al.
Investigative Ophthalmology & Visual Science, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.
Behnen P et al.
Iscience, 2018
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 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
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2016
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Athanasiou D et al.
Human Molecular Genetics, 2014
Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
McKeone R et al.
Molecular Vision, 2014
Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.
Liu MY et al.
The Journal of Biological Chemistry, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.
Carroll J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.
Felline A et al.
Journal of Chemical Theory and Computation, 2009
[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
Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.
Padrón-García JA et al.
Proteins, 2004
Hammerhead ribozymes designed to cleave all human rod opsin mRNAs which cause autosomal dominant retinitis pigmentosa.
Sullivan JM et al.
Molecular Vision, 2002
Development of stable cell lines expressing high levels of point mutants of human opsin for biochemical and biophysical studies.
Sullivan JM et al.
Methods in Enzymology, 2000
Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.
Hwa J et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
Bessant DA et al.
Human Mutation, 1999
Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
Millá E et al.
Ophthalmic Genetics, 1998
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Molecular Architecture of G Protein-Coupled Receptors.
van Rhee AM et al.
Drug Development Research, 1996
Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
Richards JE et al.
Ophthalmology, 1995
Retinal degeneration caused by dominant rhodopsin mutations in Drosophila.
Kurada P et al.
Neuron, 1995
Structure and function in rhodopsin. Requirements of a specific structure for the intradiscal domain.
Anukanth A et al.
The Journal of Biological Chemistry, 1994
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Sung CH et al.
Proceedings of the National Academy of Sciences of the United States of America, 1991