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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: collin j. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.
Kurzawa-Akanbi M, Whitfield P, Burté F, Bertelli PM, Pathak V, Doherty M, Hilgen B, Gliaudelytė L, Platt M, Queen R, Coxhead J, Porter A, Öberg M, Fabrikova D, Davey T, Beh CS, Georgiou M, Collin J, Boczonadi V, Härtlova A, Taggart M, Al-Aama J, Korolchuk VI, Morris CM, Guduric-Fuchs J, Steel DH, Medina RJ, Armstrong L, Lako M. Kurzawa-Akanbi M, et al. Among authors: collin j. J Extracell Vesicles. 2022 Dec;11(12):e12295. doi: 10.1002/jev2.12295. J Extracell Vesicles. 2022. PMID: 36544284 Free PMC article.
Incorporating microglia-like cells in human induced pluripotent stem cell-derived retinal organoids.
Chichagova V, Georgiou M, Carter M, Dorgau B, Hilgen G, Collin J, Queen R, Chung G, Ajeian J, Moya-Molina M, Kustermann S, Pognan F, Hewitt P, Schmitt M, Sernagor E, Armstrong L, Lako M. Chichagova V, et al. Among authors: collin j. J Cell Mol Med. 2023 Feb;27(3):435-445. doi: 10.1111/jcmm.17670. Epub 2023 Jan 16. J Cell Mol Med. 2023. PMID: 36644817 Free PMC article.
Single-cell RNA sequencing reveals transcriptional changes of human choroidal and retinal pigment epithelium cells during fetal development, in healthy adult and intermediate age-related macular degeneration.
Collin J, Hasoon MSR, Zerti D, Hammadi S, Dorgau B, Clarke L, Steel D, Hussain R, Coxhead J, Lisgo S, Queen R, Lako M. Collin J, et al. Hum Mol Genet. 2023 May 5;32(10):1698-1710. doi: 10.1093/hmg/ddad007. Hum Mol Genet. 2023. PMID: 36645183 Free PMC article.
Deciphering the spatiotemporal transcriptional and chromatin accessibility of human retinal organoid development at the single-cell level.
Dorgau B, Collin J, Rozanska A, Boczonadi V, Moya-Molina M, Unsworth A, Hussain R, Coxhead J, Dhanaseelan T, Armstrong L, Queen R, Lako M. Dorgau B, et al. Among authors: collin j. iScience. 2024 Mar 4;27(4):109397. doi: 10.1016/j.isci.2024.109397. eCollection 2024 Apr 19. iScience. 2024. PMID: 38510120 Free PMC article.
736 results