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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: sznajder lj. 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.
Intron retention induced by microsatellite expansions as a disease biomarker.
Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. Sznajder ŁJ, et al. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4234-4239. doi: 10.1073/pnas.1716617115. Epub 2018 Apr 2. Proc Natl Acad Sci U S A. 2018. PMID: 29610297 Free PMC article.
MBNL splicing activity depends on RNA binding site structural context.
Taylor K, Sznajder LJ, Cywoniuk P, Thomas JD, Swanson MS, Sobczak K. Taylor K, et al. Among authors: sznajder lj. Nucleic Acids Res. 2018 Sep 28;46(17):9119-9133. doi: 10.1093/nar/gky565. Nucleic Acids Res. 2018. PMID: 29955876 Free PMC article.
The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1.
Batra R, Nelles DA, Roth DM, Krach F, Nutter CA, Tadokoro T, Thomas JD, Sznajder ŁJ, Blue SM, Gutierrez HL, Liu P, Aigner S, Platoshyn O, Miyanohara A, Marsala M, Swanson MS, Yeo GW. Batra R, et al. Among authors: sznajder lj. Nat Biomed Eng. 2021 Feb;5(2):157-168. doi: 10.1038/s41551-020-00607-7. Epub 2020 Sep 14. Nat Biomed Eng. 2021. PMID: 32929188 Free PMC article.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS. Nutter CA, et al. Among authors: sznajder lj. Brain. 2023 Oct 3;146(10):4217-4232. doi: 10.1093/brain/awad148. Brain. 2023. PMID: 37143315 Free PMC article.
16 results