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Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.
Franck S, Couvreu De Deckersberg E, Bubenik JL, Markouli C, Barbé L, Allemeersch J, Hilven P, Duqué G, Swanson MS, Gheldof A, Spits C, Sermon KD. Franck S, et al. Among authors: swanson ms. Biol Open. 2022 Jan 15;11(1):bio058978. doi: 10.1242/bio.058978. Epub 2022 Jan 12. Biol Open. 2022. PMID: 35019138 Free PMC article.
A muscleblind knockout model for myotonic dystrophy.
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS. Kanadia RN, et al. Among authors: swanson ms. Science. 2003 Dec 12;302(5652):1978-80. doi: 10.1126/science.1088583. Science. 2003. PMID: 14671308
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares M Jr, Darnell RB, Swanson MS. Charizanis K, et al. Among authors: swanson ms. Neuron. 2012 Aug 9;75(3):437-50. doi: 10.1016/j.neuron.2012.05.029. Neuron. 2012. PMID: 22884328 Free PMC article.
Compound loss of muscleblind-like function in myotonic dystrophy.
Lee KY, Li M, Manchanda M, Batra R, Charizanis K, Mohan A, Warren SA, Chamberlain CM, Finn D, Hong H, Ashraf H, Kasahara H, Ranum LP, Swanson MS. Lee KY, et al. Among authors: swanson ms. EMBO Mol Med. 2013 Dec;5(12):1887-900. doi: 10.1002/emmm.201303275. Epub 2013 Oct 8. EMBO Mol Med. 2013. PMID: 24293317 Free PMC article.
RNA mis-splicing in disease.
Scotti MM, Swanson MS. Scotti MM, et al. Among authors: swanson ms. Nat Rev Genet. 2016 Jan;17(1):19-32. doi: 10.1038/nrg.2015.3. Epub 2015 Nov 23. Nat Rev Genet. 2016. PMID: 26593421 Free PMC article. Review.
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Thomas JD, Sznajder ŁJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS. Thomas JD, et al. Among authors: swanson ms. Genes Dev. 2017 Jun 1;31(11):1122-1133. doi: 10.1101/gad.300590.117. Epub 2017 Jul 11. Genes Dev. 2017. PMID: 28698297 Free PMC article.
305 results