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2016 5
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Page 1
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.
Sachdev A, Gill K, Sckaff M, Birk AM, Aladesuyi Arogundade O, Brown KA, Chouhan RS, Issagholian-Lewin PO, Patel E, Watry HL, Bernardi MT, Keough KC, Tsai YC, Smith AST, Conklin BR, Clelland CD. Sachdev A, et al. Proc Natl Acad Sci U S A. 2024 Apr 23;121(17):e2307814121. doi: 10.1073/pnas.2307814121. Epub 2024 Apr 15. Proc Natl Acad Sci U S A. 2024. PMID: 38621131 Free PMC article.
Validated assays for the quantification of C9orf72 human pathology.
Salomonsson SE, Maltos AM, Gill K, Aladesuyi Arogundade O, Brown KA, Sachdev A, Sckaff M, Lam KJK, Fisher IJ, Chouhan RS, Van Laar VS, Marley CB, McLaughlin I, Bankiewicz KS, Tsai YC, Conklin BR, Clelland CD. Salomonsson SE, et al. Sci Rep. 2024 Jan 8;14(1):828. doi: 10.1038/s41598-023-50667-3. Sci Rep. 2024. PMID: 38191789 Free PMC article.
Improved Sendai viral system for reprogramming to naive pluripotency.
Kunitomi A, Hirohata R, Arreola V, Osawa M, Kato TM, Nomura M, Kawaguchi J, Hara H, Kusano K, Takashima Y, Takahashi K, Fukuda K, Takasu N, Yamanaka S. Kunitomi A, et al. Cell Rep Methods. 2022 Oct 17;2(11):100317. doi: 10.1016/j.crmeth.2022.100317. eCollection 2022 Nov 21. Cell Rep Methods. 2022. PMID: 36447645 Free PMC article.
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Fenix AM, Miyaoka Y, Bertero A, Blue SM, Spindler MJ, Tan KKB, Perez-Bermejo JA, Chan AH, Mayerl SJ, Nguyen TD, Russell CR, Lizarraga PP, Truong A, So PL, Kulkarni A, Chetal K, Sathe S, Sniadecki NJ, Yeo GW, Murry CE, Conklin BR, Salomonis N. Fenix AM, et al. Nat Commun. 2021 Nov 3;12(1):6324. doi: 10.1038/s41467-021-26623-y. Nat Commun. 2021. PMID: 34732726 Free PMC article.
SARS-CoV-2 infection of human iPSC-derived cardiac cells reflects cytopathic features in hearts of patients with COVID-19.
Perez-Bermejo JA, Kang S, Rockwood SJ, Simoneau CR, Joy DA, Silva AC, Ramadoss GN, Flanigan WR, Fozouni P, Li H, Chen PY, Nakamura K, Whitman JD, Hanson PJ, McManus BM, Ott M, Conklin BR, McDevitt TC. Perez-Bermejo JA, et al. Sci Transl Med. 2021 Apr 21;13(590):eabf7872. doi: 10.1126/scitranslmed.abf7872. Epub 2021 Mar 15. Sci Transl Med. 2021. PMID: 33723017 Free PMC article.
SARS-CoV-2 infection of human iPSC-derived cardiac cells predicts novel cytopathic features in hearts of COVID-19 patients.
Pérez-Bermejo JA, Kang S, Rockwood SJ, Simoneau CR, Joy DA, Ramadoss GN, Silva AC, Flanigan WR, Li H, Nakamura K, Whitman JD, Ott M, Conklin BR, McDevitt TC. Pérez-Bermejo JA, et al. bioRxiv [Preprint]. 2020 Sep 12:2020.08.25.265561. doi: 10.1101/2020.08.25.265561. bioRxiv. 2020. PMID: 32935097 Free PMC article. Updated. Preprint.
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