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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: 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.
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.
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.
Cellular senescence drives age-dependent hepatic steatosis.
Ogrodnik M, Miwa S, Tchkonia T, Tiniakos D, Wilson CL, Lahat A, Day CP, Burt A, Palmer A, Anstee QM, Grellscheid SN, Hoeijmakers JHJ, Barnhoorn S, Mann DA, Bird TG, Vermeij WP, Kirkland JL, Passos JF, von Zglinicki T, Jurk D. Ogrodnik M, et al. Among authors: grellscheid sn. Nat Commun. 2017 Jun 13;8:15691. doi: 10.1038/ncomms15691. Nat Commun. 2017. PMID: 28608850 Free PMC article.
Identification of novel androgen-regulated pathways and mRNA isoforms through genome-wide exon-specific profiling of the LNCaP transcriptome.
Rajan P, Dalgliesh C, Carling PJ, Buist T, Zhang C, Grellscheid SN, Armstrong K, Stockley J, Simillion C, Gaughan L, Kalna G, Zhang MQ, Robson CN, Leung HY, Elliott DJ. Rajan P, et al. Among authors: grellscheid sn. PLoS One. 2011;6(12):e29088. doi: 10.1371/journal.pone.0029088. Epub 2011 Dec 14. PLoS One. 2011. PMID: 22194994 Free PMC article.
29 results