Miyashita T - Search Results

1

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.

Nagao K, Togawa N, Fujii K, Uchikawa H, Kohno Y, Yamada M, Miyashita T. Nagao K, et al. Among authors: miyashita t. Hum Mol Genet. 2005 Nov 15;14(22):3379-88. doi: 10.1093/hmg/ddi369. Epub 2005 Oct 3. Hum Mol Genet. 2005. PMID: 16203740

2

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, Furue M, Yamada M, Miyashita T. Fujii K, et al. Among authors: miyashita t. Hum Mutat. 2003 Apr;21(4):451-2. doi: 10.1002/humu.9132. Hum Mutat. 2003. PMID: 12655573

3

Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein.

Miyahara A, Okamura-Oho Y, Miyashita T, Hoshika A, Yamada M. Miyahara A, et al. Among authors: miyashita t. J Hum Genet. 2003;48(8):410-414. doi: 10.1007/s10038-003-0047-x. Epub 2003 Jul 16. J Hum Genet. 2003. PMID: 12884081

4

Identification of a novel polymorphism involving a CGG repeat in the PTCH gene and a genome-wide screening of CGG-containing genes.

Nagao K, Fujii K, Yamada M, Miyashita T. Nagao K, et al. Among authors: miyashita t. J Hum Genet. 2004;49(2):97-101. doi: 10.1007/s10038-003-0117-0. Epub 2004 Jan 21. J Hum Genet. 2004. PMID: 14735326

5

Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons.

Nagao K, Toyoda M, Takeuchi-Inoue K, Fujii K, Yamada M, Miyashita T. Nagao K, et al. Among authors: miyashita t. Genomics. 2005 Apr;85(4):462-71. doi: 10.1016/j.ygeno.2004.11.014. Genomics. 2005. PMID: 15780749

6

Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products.

Tadokoro K, Yamazaki-Inoue M, Tachibana M, Fujishiro M, Nagao K, Toyoda M, Ozaki M, Ono M, Miki N, Miyashita T, Yamada M. Tadokoro K, et al. Among authors: miyashita t. J Hum Genet. 2005;50(8):382-394. doi: 10.1007/s10038-005-0261-9. Epub 2005 Aug 10. J Hum Genet. 2005. PMID: 16091834

7

Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas.

Uchikawa H, Toyoda M, Nagao K, Miyauchi H, Nishikawa R, Fujii K, Kohno Y, Yamada M, Miyashita T. Uchikawa H, et al. Among authors: miyashita t. Biochem Biophys Res Commun. 2006 Oct 13;349(1):277-83. doi: 10.1016/j.bbrc.2006.08.046. Epub 2006 Aug 17. Biochem Biophys Res Commun. 2006. PMID: 16934747

8

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.

Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T. Fujii K, et al. Among authors: miyashita t. Hum Genet. 2007 Dec;122(5):459-66. doi: 10.1007/s00439-007-0419-y. Epub 2007 Aug 17. Hum Genet. 2007. PMID: 17703323

9

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.

Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T. Uchikawa H, et al. Among authors: miyashita t. J Hum Genet. 2007;52(11):891-897. doi: 10.1007/s10038-007-0192-8. Epub 2007 Sep 13. J Hum Genet. 2007. PMID: 17851636

10

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T. Sasaki R, et al. Among authors: miyashita t. J Hum Genet. 2009 Jul;54(7):398-402. doi: 10.1038/jhg.2009.51. Epub 2009 Jun 12. J Hum Genet. 2009. PMID: 19521425

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