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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: fairbrother wg. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG. Soemedi R, et al. Among authors: fairbrother wg. Nat Genet. 2017 Jun;49(6):848-855. doi: 10.1038/ng.3837. Epub 2017 Apr 17. Nat Genet. 2017. PMID: 28416821 Free PMC article.
The effects of structure on pre-mRNA processing and stability.
Soemedi R, Cygan KJ, Rhine CL, Glidden DT, Taggart AJ, Lin CL, Fredericks AM, Fairbrother WG. Soemedi R, et al. Among authors: fairbrother wg. Methods. 2017 Aug 1;125:36-44. doi: 10.1016/j.ymeth.2017.06.001. Epub 2017 Jun 6. Methods. 2017. PMID: 28595983 Free PMC article. Review.
Hereditary cancer genes are highly susceptible to splicing mutations.
Rhine CL, Cygan KJ, Soemedi R, Maguire S, Murray MF, Monaghan SF, Fairbrother WG. Rhine CL, et al. Among authors: fairbrother wg. PLoS Genet. 2018 Mar 5;14(3):e1007231. doi: 10.1371/journal.pgen.1007231. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29505604 Free PMC article.
The debranching enzyme Dbr1 regulates lariat turnover and intron splicing.
Buerer L, Clark NE, Welch A, Duan C, Taggart AJ, Townley BA, Wang J, Soemedi R, Rong S, Lin CL, Zeng Y, Katolik A, Staley JP, Damha MJ, Mosammaparast N, Fairbrother WG. Buerer L, et al. Among authors: fairbrother wg. Res Sq [Preprint]. 2023 Jun 13:rs.3.rs-2931976. doi: 10.21203/rs.3.rs-2931976/v1. Res Sq. 2023. PMID: 37398028 Free PMC article. Preprint.
The importance of p53 pathway genetics in inherited and somatic cancer genomes.
Stracquadanio G, Wang X, Wallace MD, Grawenda AM, Zhang P, Hewitt J, Zeron-Medina J, Castro-Giner F, Tomlinson IP, Goding CR, Cygan KJ, Fairbrother WG, Thomas LF, Sætrom P, Gemignani F, Landi S, Schuster-Böckler B, Bell DA, Bond GL. Stracquadanio G, et al. Among authors: fairbrother wg. Nat Rev Cancer. 2016 Apr;16(4):251-65. doi: 10.1038/nrc.2016.15. Nat Rev Cancer. 2016. PMID: 27009395 Free PMC article. Review.
RNA-Binding Proteins: Splicing Factors and Disease.
Fredericks AM, Cygan KJ, Brown BA, Fairbrother WG. Fredericks AM, et al. Among authors: fairbrother wg. Biomolecules. 2015 May 13;5(2):893-909. doi: 10.3390/biom5020893. Biomolecules. 2015. PMID: 25985083 Free PMC article. Review.
56 results