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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA, Khan M, Rooijakkers AAMB, Mulders T, Haer-Wigman L, Boon CJF, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM, den Hollander AI, Dhaenens CM, Collin RWJ. Peeters MHCA, et al. Hum Mutat. 2021 Dec;42(12):1521-1547. doi: 10.1002/humu.24275. Epub 2021 Sep 20. Hum Mutat. 2021. PMID: 34411390 Free PMC article.
Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). ...
Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs) …
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Integrative study of gene expression datasets in retinal samples of Diabetic Retinopathy.
Rajendran S, Seetharaman S, Vetrivel U, Kuppan K. Rajendran S, et al. Exp Eye Res. 2022 Oct;223:109194. doi: 10.1016/j.exer.2022.109194. Epub 2022 Jul 20. Exp Eye Res. 2022. PMID: 35868364
STRING database PPI network identified Retinol Binding Protein 3, Neural Retina Leucine Zipper, S-Antigen Visual Arrestin, Peripherin 2, and Aryl Hydrocarbon Receptor Interacting Protein Like-1 to be the most highly ranked hub genes. ...
STRING database PPI network identified Retinol Binding Protein 3, Neural Retina Leucine Zipper, S-Antigen Visual Arrestin, Peripherin …
Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
Sanlialp A, Escher P, Schaller A, Todorova M. Sanlialp A, et al. Klin Monbl Augenheilkd. 2023 Apr;240(4):536-543. doi: 10.1055/a-2034-6250. Epub 2023 Apr 25. Klin Monbl Augenheilkd. 2023. PMID: 37164409 English.
(Asp157Asn) heterozygous pathogenic variant in PRPH2 associated with autosomal dominant cone-rod dystrophy and rod-cone dystrophy. PRPH2 codes for peripherin-2, a membrane protein that consists of 346 amino acids. CONCLUSIONS: Our findings confirm a heterogeneity in clinic …
(Asp157Asn) heterozygous pathogenic variant in PRPH2 associated with autosomal dominant cone-rod dystrophy and rod-cone dystrophy. PRPH2 cod …
A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.
Cavanaugh BL, Milstein ML, Boucher RC, Tan SX, Hanna MW, Seidel A, Frederiksen R, Saunders TL, Sampath AP, Mitton KP, Zhang DQ, Goldberg AFX. Cavanaugh BL, et al. Hum Mol Genet. 2024 Nov 5;33(21):1916-1928. doi: 10.1093/hmg/ddae128. Hum Mol Genet. 2024. PMID: 39231530 Free PMC article.
Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a photoreceptor-specific tetraspanin protein that structures the disk rim membranes of rod and cone outer segment (OS) organelles, and is requi …
Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a p …
Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.
Rutan Woods CT, Makia MS, Lewis TR, Crane R, Zeibak S, Yu P, Kakakhel M, Castillo CM, Arshavsky VY, Naash MI, Al-Ubaidi MR. Rutan Woods CT, et al. Nat Commun. 2024 Jun 4;15(1):4756. doi: 10.1038/s41467-024-48846-5. Nat Commun. 2024. PMID: 38834544 Free PMC article.
Given the absence of approved treatments for pathogenic variants in Peripherin-2 (PRPH2), it is imperative to identify a universally effective therapeutic target for PRPH2 pathogenic variants. ...
Given the absence of approved treatments for pathogenic variants in Peripherin-2 (PRPH2), it is imperative to identify a universally …
Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation.
Caruso SM, Tsai YT, da Costa BL, Kolesnikova M, Jenny LA, Tsang SH, Quinn PMJ. Caruso SM, et al. Adv Exp Med Biol. 2023;1415:97-102. doi: 10.1007/978-3-031-27681-1_15. Adv Exp Med Biol. 2023. PMID: 37440020
Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular degeneration. ...
Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa …
The Role of Peripherin-2/ROM1 Complexes in Photoreceptor Outer Segment Disc Morphogenesis.
Lewis TR, Al-Ubaidi MR, Naash MI, Arshavsky VY. Lewis TR, et al. Adv Exp Med Biol. 2023;1415:277-281. doi: 10.1007/978-3-031-27681-1_40. Adv Exp Med Biol. 2023. PMID: 37440045
The vast majority of these mutations occur within a large, intradiscal loop of peripherin-2, known as the D2 loop. The D2 loop mediates well-established intermolecular interactions of peripherin-2 molecules among themselves and a homologous protein ROM1. ...In this …
The vast majority of these mutations occur within a large, intradiscal loop of peripherin-2, known as the D2 loop. The D2 loop mediat …
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Conley SM, McClard CK, Mwoyosvi ML, Alkadhem N, Radojevic B, Klein M, Birch D, Ellis A, Icks SW, Guddanti T, Bennett LD. Conley SM, et al. Invest Ophthalmol Vis Sci. 2022 Jul 8;63(8):19. doi: 10.1167/iovs.63.8.19. Invest Ophthalmol Vis Sci. 2022. PMID: 35861669 Free PMC article.
PURPOSE: More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. ...
PURPOSE: More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal disease …
20 results