Associated Papers
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
Tsutsui S et al.
Japanese Journal of Ophthalmology, 2024
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
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
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
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
Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.
Pan Z et al.
Molecular Vision, 2012
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa.
Galy A et al.
Human Molecular Genetics, 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
Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country.
Alvarez AI et al.
Clinical Genetics, 1999
Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.
Alvarez AI et al.
Journal of Medical Genetics, 1998
Strategems in vitro for gene therapies directed to dominant mutations.
Millington-Ward S et al.
Human Molecular Genetics, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.
Kaushal S et al.
Biochemistry, 1994
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.
Sung CH et al.
The Journal of Biological Chemistry, 1993
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Dryja TP
Eye (london, England), 1992