Nishida A - Search Results

1

Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.

Sako Y, Ninomiya K, Okuno Y, Toyomoto M, Nishida A, Koike Y, Ohe K, Kii I, Yoshida S, Hashimoto N, Hosoya T, Matsuo M, Hagiwara M. Sako Y, et al. Among authors: nishida a. Sci Rep. 2017 May 30;7:46126. doi: 10.1038/srep46126. Sci Rep. 2017. PMID: 28555643 Free PMC article.

2

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: nishida a. Hum Genet. 2009 Oct;126(4):533-8. doi: 10.1007/s00439-009-0697-7. Epub 2009 Jun 10. Hum Genet. 2009. PMID: 19513753

3

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

Dwianingsih EK, Takeshima Y, Itoh K, Yamauchi Y, Awano H, Malueka RG, Nishida A, Ota M, Yagi M, Matsuo M. Dwianingsih EK, et al. Among authors: nishida a. Mol Genet Metab. 2010 Oct-Nov;101(2-3):233-7. doi: 10.1016/j.ymgme.2010.06.016. Epub 2010 Jul 1. Mol Genet Metab. 2010. PMID: 20638880

4

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.

Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M. Nishida A, et al. Nat Commun. 2011;2:308. doi: 10.1038/ncomms1306. Nat Commun. 2011. PMID: 21556062 Free PMC article.

5

A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.

Ota M, Takeshima Y, Nishida A, Awano H, Lee T, Yagi M, Matsuo M. Ota M, et al. Among authors: nishida a. Genet Test Mol Biomarkers. 2012 Jan;16(1):3-8. doi: 10.1089/gtmb.2010.0276. Epub 2011 Aug 19. Genet Test Mol Biomarkers. 2012. PMID: 21854195

6

Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system.

Malueka RG, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, Matsuo M. Malueka RG, et al. Among authors: nishida a. Nucleic Acid Ther. 2011 Oct;21(5):347-53. doi: 10.1089/nat.2011.0310. Epub 2011 Oct 3. Nucleic Acid Ther. 2011. PMID: 21967521

7

Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.

Malueka RG, Takaoka Y, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, Matsuo M. Malueka RG, et al. Among authors: nishida a. BMC Genet. 2012 Mar 31;13:23. doi: 10.1186/1471-2156-13-23. BMC Genet. 2012. PMID: 22462762 Free PMC article.

8

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.

Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M. Tran TH, et al. Among authors: nishida a. J Hum Genet. 2013 Jan;58(1):33-9. doi: 10.1038/jhg.2012.131. Epub 2012 Dec 6. J Hum Genet. 2013. PMID: 23223008

9

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.

Dwianingsih EK, Malueka RG, Nishida A, Itoh K, Lee T, Yagi M, Iijima K, Takeshima Y, Matsuo M. Dwianingsih EK, et al. Among authors: nishida a. J Hum Genet. 2014 Aug;59(8):423-9. doi: 10.1038/jhg.2014.36. Epub 2014 May 29. J Hum Genet. 2014. PMID: 24871807

10

Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts.

Takarada T, Nishida A, Takeuchi A, Lee T, Takeshima Y, Matsuo M. Takarada T, et al. Among authors: nishida a. Brain Dev. 2015 Aug;37(7):661-8. doi: 10.1016/j.braindev.2014.11.001. Epub 2014 Dec 1. Brain Dev. 2015. PMID: 25476247

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