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Page 1
Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.
Noguchi Y, Onishi A, Nakamachi Y, Hayashi N, Harahap NI, Rochmah MA, Shima A, Yanagisawa S, Morisada N, Nakagawa T, Iijima K, Kasagi S, Saegusa J, Kawano S, Shinohara M, Tairaku S, Saito T, Kubo Y, Saito K, Nishio H. Noguchi Y, et al. Among authors: harahap ni. Pediatr Neurol. 2016 May;58:83-9. doi: 10.1016/j.pediatrneurol.2016.01.019. Epub 2016 Jan 30. Pediatr Neurol. 2016. PMID: 27268759
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Yamamoto T, et al. Among authors: harahap ni. Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17. Brain Dev. 2014. PMID: 24359787
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
Yoshimoto S, Harahap NI, Hamamura Y, Ar Rochmah M, Shima A, Morisada N, Shinohara M, Saito T, Saito K, Lai PS, Matsuo M, Awano H, Morioka I, Iijima K, Nishio H. Yoshimoto S, et al. Among authors: harahap ni. Hum Genome Var. 2016 Dec 1;3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016. Hum Genome Var. 2016. PMID: 27917293 Free PMC article.
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T, Ar Rochmah M, Harahap NIF, Shinohara M, Saito T, Saito K, Lai PS, Bouike Y, Takeshima Y, Awano H, Morioka I, Iijima K, Nishio H, Takeuchi A. Takarada T, et al. Brain Dev. 2017 Aug;39(7):606-612. doi: 10.1016/j.braindev.2017.03.002. Epub 2017 Mar 31. Brain Dev. 2017. PMID: 28366534
30 results