Lee T - Search Results

1

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y. Lee T, et al. Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018. Hum Genome Var. 2018. PMID: 30131866 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: lee t. 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: lee t. 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: lee t. 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: lee t. 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. 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: lee t. 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

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: lee t. 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

9

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: lee t. Pediatr Int. 2013 Oct;55(5):646-9. doi: 10.1111/ped.12152. Pediatr Int. 2013. PMID: 24134754

10

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.

Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, Iijima K. Lee T, et al. J Hum Genet. 2014 Jan;59(1):46-50. doi: 10.1038/jhg.2013.119. Epub 2013 Nov 14. J Hum Genet. 2014. PMID: 24225992 Free PMC article.

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