Associated Papers
Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Fan X et al.
Scientific Reports, 2025
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.
Ikelle L et al.
Advances in Experimental Medicine and Biology, 2025
A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.
Cavanaugh BL et al.
Human Molecular Genetics, 2024
Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Ikelle L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
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
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Conley SM et al.
Investigative Ophthalmology & Visual Science, 2022
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
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Strayve D et al.
Human Molecular Genetics, 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
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Zulliger R et al.
Human Molecular Genetics, 2018
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
Katagiri S et al.
Ophthalmic Genetics, 2018
Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.
Böhm S et al.
Scientific Reports, 2017
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Conley SM et al.
Human Molecular Genetics, 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
RDS Functional Domains and Dysfunction in Disease.
Stuck MW et al.
Advances in Experimental Medicine and Biology, 2016
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.
Stuck MW et al.
The Journal of Biological Chemistry, 2015
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Stuck MW et al.
Human Molecular Genetics, 2014
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
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome.
Chakraborty D et al.
Plos One, 2013
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.
Conley SM et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Conley SM et al.
Biochemistry, 2010
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.
Cai X et al.
Advances in Experimental Medicine and Biology, 2010
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.
Chakraborty D et al.
Human Molecular Genetics, 2009
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
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Conley S et al.
Investigative Ophthalmology & Visual Science, 2007
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ et al.
Molecular Vision, 2007
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2006
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Wiszniewski W et al.
Human Molecular Genetics, 2005
The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice.
Stricker HM et al.
The Biochemical Journal, 2005
Role of subunit assembly in autosomal dominant retinitis pigmentosa linked to mutations in peripherin 2.
Molday RS et al.
Novartis Foundation Symposium, 2004
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
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.
Loewen CJ et al.
The Journal of Biological Chemistry, 2001
Expression and characterization of peripherin/rds-rom-1 complexes and mutants implicated in retinal degenerative diseases.
Goldberg AF et al.
Methods in Enzymology, 2000
[Connexin gene mutation and disease].
Huo ZH et al.
Sheng Li Ke Xue Jin Zhan [progress in Physiology], 1999
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
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996