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Page 1
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M. Buskin A, et al. Among authors: grellscheid sn. Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y. Nat Commun. 2018. PMID: 30315276 Free PMC article.
Alternative RNA splicing regulation in the testis.
Elliott DJ, Grellscheid SN. Elliott DJ, et al. Among authors: grellscheid sn. Reproduction. 2006 Dec;132(6):811-9. doi: 10.1530/REP-06-0147. Reproduction. 2006. PMID: 17127741 Review.
Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.
Grellscheid S, Dalgliesh C, Storbeck M, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ. Grellscheid S, et al. PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15. PLoS Genet. 2011. PMID: 22194695 Free PMC article.
The splicing landscape is globally reprogrammed during male meiosis.
Schmid R, Grellscheid SN, Ehrmann I, Dalgliesh C, Danilenko M, Paronetto MP, Pedrotti S, Grellscheid D, Dixon RJ, Sette C, Eperon IC, Elliott DJ. Schmid R, et al. Among authors: grellscheid sn, grellscheid d. Nucleic Acids Res. 2013 Dec;41(22):10170-84. doi: 10.1093/nar/gkt811. Epub 2013 Sep 12. Nucleic Acids Res. 2013. PMID: 24038356 Free PMC article.
An integrated transcriptional analysis of the developing human retina.
Mellough CB, Bauer R, Collin J, Dorgau B, Zerti D, Dolan DWP, Jones CM, Izuogu OG, Yu M, Hallam D, Steyn JS, White K, Steel DH, Santibanez-Koref M, Elliott DJ, Jackson MS, Lindsay S, Grellscheid S, Lako M. Mellough CB, et al. Development. 2019 Jan 29;146(2):dev169474. doi: 10.1242/dev.169474. Development. 2019. PMID: 30696714 Free PMC article.
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: grellscheid sn. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
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