Associated Papers
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
Inpp5e is crucial for photoreceptor outer segment maintenance.
Gupta M et al.
Journal of Cell Science, 2025
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.
Ikelle L et al.
Advances in Experimental Medicine and Biology, 2025
Inpp5e Is Critical for Photoreceptor Outer Segment Maintenance.
Gupta M et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.
Rutan Woods CT et al.
Nature Communications, 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
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
The Neuroprotective Role of Retbindin, a Metabolic Regulator in the Neural Retina.
Zhao X et al.
Frontiers in Pharmacology, 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
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A et al.
Genes, 2021
Modulation of SOD3 Levels Is Detrimental to Retinal Homeostasis.
Ikelle L et al.
Antioxidants (basel, Switzerland), 2021
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Buhler VMM et al.
Genes, 2021
Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
Lewis TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.
Genc AM et al.
International Journal of Molecular Sciences, 2020
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Strayve D et al.
Human Molecular Genetics, 2020
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ et al.
Human Mutation, 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
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB et al.
Cells, 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
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Zulliger R et al.
Human Molecular Genetics, 2018
Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
Ebran JM et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 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
RDS Functional Domains and Dysfunction in Disease.
Stuck MW et al.
Advances in Experimental Medicine and Biology, 2016
Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Matsui R et al.
Investigative Ophthalmology & Visual Science, 2015
SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting.
Zulliger R et al.
Plos One, 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
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Vaclavik V et al.
Retina (philadelphia, Pa.), 2012
Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.
Keilhauer CN et al.
Ophthalmic Genetics, 2006