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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Lührmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid SN, Johnson CA, Mozaffari-Jovin S, Lako M. Atkinson R, et al. Among authors: mckibbin m. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium. Taylor RL, et al. Among authors: mckibbin m. Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21. Ophthalmology. 2019. PMID: 30905644 Free PMC article.
The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.
Stuart KV, Biradar MI, Luben RN, Dhaun N, Wagner SK, Warwick AN, Sun Z, Madjedi KM, Pasquale LR, Wiggs JL, Kang JH, Lentjes MAH, Aschard H, Kim J, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2024 May 7:S2589-4196(24)00074-7. doi: 10.1016/j.ogla.2024.04.010. Online ahead of print. Ophthalmol Glaucoma. 2024. PMID: 38723778 Free article.
Impact of treat and extend criteria on proportions that can be extended after loading phase of 2 mg aflibercept therapy for neovascular age related macular degeneration: PRECISE Report 5.
Thottarath S, Gurudas S, Chandak S, Patel PJ, Kotagiri A, Pearce I, McKibbin M, Menon G, Burton BJL, Talks J, Grabowska A, Ghanchi F, Gale R, Karatsai E, Chandra S, Sivaprasad S. Thottarath S, et al. Among authors: mckibbin m. Eye (Lond). 2024 May 6. doi: 10.1038/s41433-024-03110-4. Online ahead of print. Eye (Lond). 2024. PMID: 38710939
Subretinal transient hyporeflectivity in neovascular age-related macular degeneration and its response to a loading phase of aflibercept: PRECISE report 4.
Montesel A, Pakeer Muhammed R, Chandak S, Kazantzis D, Thottarath S, Chandra S, Chong V, Burton BJL, Menon G, Pearce I, McKibbin M, Kotagiri A, Talks J, Grabowska A, Ghanchi F, Gale R, Giani A, Yamaguchi TCN, Sivaprasad S. Montesel A, et al. Among authors: mckibbin m. Eye (Lond). 2024 Apr 23. doi: 10.1038/s41433-024-03087-0. Online ahead of print. Eye (Lond). 2024. PMID: 38653751
Periodontitis and Outer Retinal Thickness: a Cross-Sectional Analysis of the United Kingdom Biobank Cohort.
Wagner SK, Patel PJ, Huemer J, Khalid H, Stuart KV, Chu CJ, Williamson DJ, Struyven RR, Romero-Bascones D, Foster PJ, Khawaja AP, Petzold A, Balaskas K, Cortina-Borja M, Chapple I, Dietrich T, Rahi JS, Denniston AK, Keane PA; UK Biobank Eye & Vision Consortium. Wagner SK, et al. Ophthalmol Sci. 2024 Jan 20;4(4):100472. doi: 10.1016/j.xops.2024.100472. eCollection 2024 Jul-Aug. Ophthalmol Sci. 2024. PMID: 38560277 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
Improved Structure and Function in Early-Detected Second-Eye Neovascular Age-Related Macular Degeneration: FASBAT/Early Detection of Neovascular Age-Related Macular Degeneration Report 1.
Gale RP, Airody A, Sivaprasad S, Hanson RLW, Allgar V, McKibbin M, Morland AB, Peto T, Porteous M, Chakravarthy U; FASBAT Study Group. Gale RP, et al. Among authors: mckibbin m. Ophthalmol Retina. 2024 Jan 1:S2468-6530(23)00674-7. doi: 10.1016/j.oret.2023.12.012. Online ahead of print. Ophthalmol Retina. 2024. PMID: 38171416 Free article.
219 results