Associated Papers
PARP Activity Is Essential for Retinal Photoreceptor Survival in the Human Homologous RhoI255del Mouse Model for Autosomal Dominant Retinitis Pigmentosa.
Zhu Y et al.
Journal of Neurochemistry, 2025
Protein kinase G inhibition preserves photoreceptor viability and function in a new mouse model for autosomal dominant retinitis pigmentosa.
Zhu Y et al.
Cell Death & Disease, 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
40736177 (PubMed )
Supplement: iovs-66-9-69_s010.xlsx › Sheet1
Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.
Park Y et al.
Current Issues in Molecular Biology, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
33508235 (PubMed )
Supplement: mmc3.xlsx › 57_variants_of_RHO_asso_to_RP4
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C et al.
Plos One, 2017
Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
Maubaret C et al.
Molecular Vision, 2012
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
Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.
Li S et al.
Biochemical and Biophysical Research Communications, 2010
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