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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K. Zarate YA, et al. Among authors: oginuma m. Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495529 Free article.
The Lin28/let-7 Pathway Regulates the Mammalian Caudal Body Axis Elongation Program.
Robinton DA, Chal J, Lummertz da Rocha E, Han A, Yermalovich AV, Oginuma M, Schlaeger TM, Sousa P, Rodriguez A, Urbach A, Pourquié O, Daley GQ. Robinton DA, et al. Among authors: oginuma m. Dev Cell. 2019 Feb 11;48(3):396-405.e3. doi: 10.1016/j.devcel.2018.12.016. Epub 2019 Jan 17. Dev Cell. 2019. PMID: 30661985 Free article.
Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy.
Chal J, Oginuma M, Al Tanoury Z, Gobert B, Sumara O, Hick A, Bousson F, Zidouni Y, Mursch C, Moncuquet P, Tassy O, Vincent S, Miyanari A, Bera A, Garnier JM, Guevara G, Hestin M, Kennedy L, Hayashi S, Drayton B, Cherrier T, Gayraud-Morel B, Gussoni E, Relaix F, Tajbakhsh S, Pourquié O. Chal J, et al. Among authors: oginuma m. Nat Biotechnol. 2015 Sep;33(9):962-9. doi: 10.1038/nbt.3297. Epub 2015 Aug 3. Nat Biotechnol. 2015. PMID: 26237517 Free article.
21 results