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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, Monis S, Alvi SA, Genetti CA, Payrastre B, Beggs AH, Bonnemann CG, Muntoni F, Wilson MD, Weksberg R, Viaud J, Dowling JJ. Volpatti JR, et al. Among authors: yuki ke. Acta Neuropathol. 2022 Sep;144(3):537-563. doi: 10.1007/s00401-022-02468-7. Epub 2022 Jul 17. Acta Neuropathol. 2022. PMID: 35844027 Free PMC article.
Identification of TIA1 mRNA targets during human neuronal development.
Byres LP, Mufteev M, Yuki KE, Wei W, Piekna A, Wilson MD, Rodrigues DC, Ellis J. Byres LP, et al. Among authors: yuki ke. Mol Biol Rep. 2021 Sep;48(9):6349-6361. doi: 10.1007/s11033-021-06634-0. Epub 2021 Aug 19. Mol Biol Rep. 2021. PMID: 34410578 Free PMC article.
Alternative polyadenylation is a determinant of oncogenic Ras function.
Subramanian A, Hall M, Hou H, Mufteev M, Yu B, Yuki KE, Nishimura H, Sathaseevan A, Lant B, Zhai B, Ellis J, Wilson MD, Daugaard M, Derry WB. Subramanian A, et al. Among authors: yuki ke. Sci Adv. 2021 Dec 17;7(51):eabh0562. doi: 10.1126/sciadv.abh0562. Epub 2021 Dec 17. Sci Adv. 2021. PMID: 34919436 Free PMC article.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Oh RY, et al. Among authors: yuki ke. Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083289 Free article.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: yuki ke. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, Almail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: yuki ke. HGG Adv. 2024 Apr 23:100299. doi: 10.1016/j.xhgg.2024.100299. Online ahead of print. HGG Adv. 2024. PMID: 38659227 Free article.
Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival.
Anderson ND, Babichev Y, Fuligni F, Comitani F, Layeghifard M, Venier RE, Dentro SC, Maheshwari A, Guram S, Wunker C, Thompson JD, Yuki KE, Hou H, Zatzman M, Light N, Bernardini MQ, Wunder JS, Andrulis IL, Ferguson P, Razak ARA, Swallow CJ, Dowling JJ, Al-Awar RS, Marcellus R, Rouzbahman M, Gerstung M, Durocher D, Alexandrov LB, Dickson BC, Gladdy RA, Shlien A. Anderson ND, et al. Among authors: yuki ke. Nat Commun. 2021 Jul 23;12(1):4496. doi: 10.1038/s41467-021-24677-6. Nat Commun. 2021. PMID: 34301934 Free PMC article.
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