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Results: 6

1.

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.

J Hum Genet. 2014 Aug;59(8):423-9. doi: 10.1038/jhg.2014.36. Epub 2014 May 29.

PMID:
24871807
[PubMed - in process]
2.

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.

BMC Genet. 2012 Mar 31;13:23. doi: 10.1186/1471-2156-13-23.

PMID:
22462762
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

Nucleic Acid Ther. 2011 Oct;21(5):347-53. doi: 10.1089/nat.2011.0310. Epub 2011 Oct 3.

PMID:
21967521
[PubMed - indexed for MEDLINE]
4.

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

Rani AQ, Malueka RG, Sasongko TH, Awano H, Lee T, Yagi M, Zilfalil BA, Salmi AB, Takeshima Y, Zabidi-Hussin ZA, Matsuo M.

Mol Genet Metab. 2011 Jul;103(3):303-4. doi: 10.1016/j.ymgme.2011.04.002. Epub 2011 Apr 8.

PMID:
21514860
[PubMed - indexed for MEDLINE]
5.

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.

Awano H, Malueka RG, Yagi M, Okizuka Y, Takeshima Y, Matsuo M.

J Hum Genet. 2010 Dec;55(12):785-90. doi: 10.1038/jhg.2010.111. Epub 2010 Sep 9.

PMID:
20827276
[PubMed - indexed for MEDLINE]
6.

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.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):233-7. doi: 10.1016/j.ymgme.2010.06.016. Epub 2010 Jul 1.

PMID:
20638880
[PubMed - indexed for MEDLINE]

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