Below are the most recent publications written about "RNA Splicing" by people in Profiles.
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Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M. Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Hum Mutat. 2022 12; 43(12):1837-1843.
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Woess K, Sun Y, Morio H, Stierschneider A, Kaufmann A, Hainzl S, Trattner L, Kocher T, Tockner B, Leb-Reichl V, Steiner M, Brachtl G, South AP, Bauer JW, Reichelt J, Furihata T, Wally V, Koller U, Piñón Hofbauer J, Guttmann-Gruber C. Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer. Int J Mol Sci. 2022 Jan 05; 23(1).
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Li D, Liu Y, Yi P, Zhu Z, Li W, Zhang QC, Li JB, Ou G. RNA editing restricts hyperactive ciliary kinases. Science. 2021 08 27; 373(6558):984-991.
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Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279.
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Ray D, Yun YC, Idris M, Cheng S, Boot A, Iain TBH, Rozen SG, Tan P, Epstein DM. A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation. Proc Natl Acad Sci U S A. 2020 07 14; 117(28):16391-16400.
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Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA. 2019 09; 25(9):1130-1149.
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Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. J Med Genet. 2018 12; 55(12):824-830.
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Piao M, Sun L, Zhang QC. RNA Regulations and Functions Decoded by Transcriptome-wide RNA Structure Probing. Genomics Proteomics Bioinformatics. 2017 10; 15(5):267-278.
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Meyer SE. Splicing together the origins of MDS-RS. Blood. 2017 08 17; 130(7):841-842.
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Zhang Y, O'Leary MN, Peri S, Wang M, Zha J, Melov S, Kappes DJ, Feng Q, Rhodes J, Amieux PS, Morris DR, Kennedy BK, Wiest DL. Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. Cell Rep. 2017 01 10; 18(2):545-556.