Takeshima Y - Search Results

1

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue.

Horibe T, Shimomura H, Tokunaga S, Taniguchi N, Lee T, Kimura S, Takeshima Y. Horibe T, et al. Among authors: takeshima y. Children (Basel). 2023 Apr 24;10(5):769. doi: 10.3390/children10050769. Children (Basel). 2023. PMID: 37238317 Free PMC article.

2

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: takeshima y. 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

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. Malueka RG, et al. Among authors: takeshima y. 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

4

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M. Yagi M, et al. Among authors: takeshima y. Mol Genet Metab. 2011 Dec;104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28. Mol Genet Metab. 2011. PMID: 22000755

5

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: takeshima y. BMC Genet. 2012 Mar 31;13:23. doi: 10.1186/1471-2156-13-23. BMC Genet. 2012. PMID: 22462762 Free PMC article.

6

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K. Lee T, et al. Among authors: takeshima y. Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2. Gene. 2013. PMID: 23124041 Clinical Trial.

7

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: takeshima y. 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

8

Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.

Yamamoto T, Tanaka H, Matsumoto K, Lee T, Awano H, Yagi M, Imanishi T, Hayashi N, Takeshima Y, Kawai H, Kawano S, Hirata K. Yamamoto T, et al. Among authors: takeshima y. Am J Cardiol. 2013 Mar 15;111(6):902-7. doi: 10.1016/j.amjcard.2012.11.049. Epub 2012 Dec 27. Am J Cardiol. 2013. PMID: 23273717

9

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: takeshima y. 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

10

Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene.

Awano H, Lee T, Yagi M, Masamune A, Kume K, Takeshima Y, Iijima K. Awano H, et al. Among authors: takeshima y. Pediatr Int. 2013 Oct;55(5):646-9. doi: 10.1111/ped.12152. Pediatr Int. 2013. PMID: 24134754

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