Associated Papers
Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Amaral RAS et al.
Experimental Biology and Medicine (maywood, N.j.), 2026
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice.
Du SW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 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
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
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.
Stanwyck LK et al.
American Journal of Ophthalmology Case Reports, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.
Wu Y et al.
Bioscience Reports, 2019
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D et al.
Progress in Retinal and Eye Research, 2018
Structural and molecular bases of rod photoreceptor morphogenesis and disease.
Wensel TG et al.
Progress in Retinal and Eye Research, 2016
Dominant and recessive mutations in rhodopsin activate different cell death pathways.
Comitato A et al.
Human Molecular Genetics, 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
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
Van Schil K et al.
Scientific Reports, 2016
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
Hernan I et al.
Investigative Ophthalmology & Visual Science, 2011
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M et al.
Molecular Vision, 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
[Retinitis pigmentosa: results of rhodopsin gene analysis in the Galician population].
Blanco MJ et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2000
A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.
Sánchez B et al.
Human Mutation, 1996
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
Borrego S et al.
Human Mutation, 1996
Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
Rosenfeld PJ et al.
Investigative Ophthalmology & Visual Science, 1995
Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.
Atkinson J et al.
Nucleic Acids Research, 1994
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
Rosenfeld PJ et al.
Nature Genetics, 1992
160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.
Capeans C et al.
Human Heredity, 0