Associated Papers
Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
Al-Khuzaei S et al.
Genes, 2025
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.
Ikelle L et al.
Advances in Experimental Medicine and Biology, 2025
Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report.
Ayyagari R et al.
Translational Vision Science & Technology, 2024
[Role of endosomal pathway in the ciliary transport and the membrane organization of outer segment disc membrane in photoreceptors].
Otsu W
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 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
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B et al.
Genes, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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 disease mutations lead to structural and functional defects in the RPE.
Tebbe L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.
Lee CS et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 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
Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization.
Lewis TR et al.
Frontiers in Cellular Neuroscience, 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
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
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Stuck MW et al.
Human Molecular Genetics, 2014
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Duncan JL et al.
Investigative Ophthalmology & Visual Science, 2011
Fundus autofluorescence imaging of retinal dystrophies.
Boon CJ et al.
Vision Research, 2008
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
Boon CJ et al.
The British Journal of Ophthalmology, 2007
Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report.
Zhang K et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2002