Niba ETE - Search Results

1

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.

Harahap NIF, Niba ETE, Ar Rochmah M, Wijaya YOS, Saito T, Saito K, Awano H, Morioka I, Iijima K, Lai PS, Matsuo M, Nishio H, Shinohara M. Harahap NIF, et al. Among authors: niba ete. Brain Dev. 2018 Sep;40(8):670-677. doi: 10.1016/j.braindev.2018.03.001. Epub 2018 Mar 23. Brain Dev. 2018. PMID: 29580671

2

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene.

Niba ET, Tran VK, Tuan-Pham le A, Vu DC, Nguyen NK, Ta VT, Tran TH, Lee T, Takeshima Y, Matsuo M. Niba ET, et al. Clin Chim Acta. 2014 Sep 25;436:155-9. doi: 10.1016/j.cca.2014.05.018. Epub 2014 Jun 2. Clin Chim Acta. 2014. PMID: 24892813

3

Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.

Nishida A, Minegishi M, Takeuchi A, Niba ET, Awano H, Lee T, Iijima K, Takeshima Y, Matsuo M. Nishida A, et al. J Hum Genet. 2015 Jun;60(6):327-33. doi: 10.1038/jhg.2015.24. Epub 2015 Apr 2. J Hum Genet. 2015. PMID: 25833469

4

Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.

Nishida A, Minegishi M, Takeuchi A, Awano H, Niba ET, Matsuo M. Nishida A, et al. Hum Genet. 2015 Sep;134(9):993-1001. doi: 10.1007/s00439-015-1581-2. Epub 2015 Jul 8. Hum Genet. 2015. PMID: 26152642

5

HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.

Nishida A, Yasuno S, Takeuchi A, Awano H, Lee T, Niba ET, Fujimoto T, Itoh K, Takeshima Y, Nishio H, Matsuo M. Nishida A, et al. Histochem Cell Biol. 2016 Sep;146(3):301-9. doi: 10.1007/s00418-016-1439-2. Epub 2016 Apr 25. Histochem Cell Biol. 2016. PMID: 27109495

6

Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

Niba ETE, Nishida A, Tran VK, Vu DC, Matsumoto M, Awano H, Lee T, Takeshima Y, Nishio H, Matsuo M. Niba ETE, et al. J Hum Genet. 2017 Apr;62(5):531-537. doi: 10.1038/jhg.2016.162. Epub 2017 Jan 19. J Hum Genet. 2017. PMID: 28100912

7

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA.

Ar Rochmah M, Harahap NIF, Niba ETE, Nakanishi K, Awano H, Morioka I, Iijima K, Saito T, Saito K, Lai PS, Takeshima Y, Takeuchi A, Bouike Y, Okamoto M, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: niba ete. Brain Dev. 2017 Oct;39(9):774-782. doi: 10.1016/j.braindev.2017.04.015. Epub 2017 May 15. Brain Dev. 2017. PMID: 28522225

8

DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.

Niba ETE, Yamanaka R, Rani AQM, Awano H, Matsumoto M, Nishio H, Matsuo M. Niba ETE, et al. Cancer Cell Int. 2017 May 23;17:58. doi: 10.1186/s12935-017-0428-4. eCollection 2017. Cancer Cell Int. 2017. PMID: 28546788 Free PMC article.

9

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

Shinohara M, Ar Rochmah M, Nakanishi K, Harahap NIF, Niba ETE, Saito T, Saito K, Takeuchi A, Bouike Y, Nishio H. Shinohara M, et al. Among authors: niba ete. Kobe J Med Sci. 2017 Sep 7;63(2):E37-E40. Kobe J Med Sci. 2017. PMID: 29434172 Free PMC article.

10

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

Ar Rochmah M, Shima A, Harahap NIF, Niba ETE, Morisada N, Yanagisawa S, Saito T, Kaneko K, Saito K, Morioka I, Iijima K, Lai PS, Bouike Y, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: niba ete. Kobe J Med Sci. 2017 Oct 16;63(2):E41-E44. Kobe J Med Sci. 2017. PMID: 29434173 Free PMC article.

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