Associated Papers
Elevating Jak-STAT signaling via SOCS3 deletion sustains photoreceptor viability and visual function in mouse models of retinitis pigmentosa.
Wang Y et al.
Research Square, 2025
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A et al.
Genes, 2021
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ et al.
Human Mutation, 2020
Impacts of ciliary neurotrophic factor on the retinal transcriptome in a mouse model of photoreceptor degeneration.
Wang Y et al.
Scientific Reports, 2020
The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
Tebbe L et al.
Cells, 2020
Novel molecular mechanisms for Prph2-associated pattern dystrophy.
Chakraborty D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1.
Ma CJ et al.
Cold Spring Harbor Molecular Case Studies, 2019
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Zulliger R et al.
Human Molecular Genetics, 2018
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
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD et al.
Molecular Vision, 2017
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
Chakraborty D et al.
Human Molecular Genetics, 2016
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
Becirovic E et al.
Plos Genetics, 2016
Gene therapy for PRPH2-associated ocular disease: challenges and prospects.
Conley SM et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Chakraborty D et al.
The Febs Journal, 2013
Gene therapy in animal models of autosomal dominant retinitis pigmentosa.
Rossmiller B et al.
Molecular Vision, 2012
Expression and structural characterization of peripherin/RDS, a membrane protein implicated in photoreceptor outer segment morphology.
Vos WL et al.
European Biophysics Journal : Ebj, 2010
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.
Cai X et al.
Advances in Experimental Medicine and Biology, 2010
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.
Nystuen AM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa.
Nour M et al.
Advances in Experimental Medicine and Biology, 2008
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
[Subretinal transplantation of human fetal lung fibroblasts expressed ciliary neurotrophic factor gene prevent photoreceptor degeneration in RCS rats].
Huang Q et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2006
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2006
Role of subunit assembly in autosomal dominant retinitis pigmentosa linked to mutations in peripherin 2.
Molday RS et al.
Novartis Foundation Symposium, 2004
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
Schatz P et al.
Acta Ophthalmologica Scandinavica, 2003
The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.
Loewen CJ et al.
Molecular Biology of the Cell, 2003
Topological analysis of peripherin/rds and abnormal glycosylation of the pathogenic Pro216-->Leu mutation.
Wrigley JD et al.
The Biochemical Journal, 2002
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.
McNally N et al.
Human Molecular Genetics, 2002
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
Kedzierski W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001
Pathways to photoreceptor cell death in inherited retinal degenerations.
Pierce EA
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies.
Wrigley JD et al.
The Journal of Biological Chemistry, 2000
[The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa].
Yang H et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2000
Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype.
Kedzierski W et al.
Journal of Neurochemistry, 1999
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ekström U et al.
Ophthalmic Genetics, 1998
Characterization of antibody against the N-terminus of RDS/peripherin.
Kim RY et al.
Ophthalmic Genetics, 1998
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ekström U et al.
Ophthalmic Genetics, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.
Nakazawa M et al.
Current Eye Research, 1997