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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.
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.
735 results