Awano H - Search Results

1

Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.

Rochmah MA, Wijaya YOS, Harahap NIF, Tode C, Takeuchi A, Ohuchi K, Shimazawa M, Hara H, Funato M, Saito T, Saito K, Lai PS, Awano H, Shinohara M, Nishio H, Niba ETE. Rochmah MA, et al. Among authors: awano h. Kobe J Med Sci. 2020 Apr 1;66(1):E1-E11. Kobe J Med Sci. 2020. PMID: 32814752 Free PMC article.

2

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M. Takeshima Y, et al. Among authors: awano h. J Hum Genet. 2010 Jun;55(6):379-88. doi: 10.1038/jhg.2010.49. Epub 2010 May 20. J Hum Genet. 2010. PMID: 20485447

3

A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.

Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, Matsuo M. Nakagawa T, et al. Among authors: awano h. Clin Chim Acta. 2013 Aug 23;423:10-4. doi: 10.1016/j.cca.2013.03.031. Epub 2013 Apr 19. Clin Chim Acta. 2013. PMID: 23603101

4

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. Among authors: awano h. 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

5

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. Among authors: awano h. Hum Genet. 2015 Sep;134(9):993-1001. doi: 10.1007/s00439-015-1581-2. Epub 2015 Jul 8. Hum Genet. 2015. PMID: 26152642

6

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.

Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K. Taniguchi-Ikeda M, et al. Among authors: awano h. J Hum Genet. 2016 Apr;61(4):351-5. doi: 10.1038/jhg.2015.157. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740235

7

Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon.

Nishida A, Oda A, Takeuchi A, Lee T, Awano H, Hashimoto N, Takeshima Y, Matsuo M. Nishida A, et al. Among authors: awano h. Brain Dev. 2016 Sep;38(8):738-45. doi: 10.1016/j.braindev.2016.03.003. Epub 2016 Mar 25. Brain Dev. 2016. PMID: 27021413

8

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. Among authors: awano h. 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

9

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: awano h. 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.

10

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. Among authors: awano h. 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

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