Nagao K - Search Results

1

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.

Ikemoto Y, Takayama Y, Fujii K, Masuda M, Kato C, Hatsuse H, Fujitani K, Nagao K, Kameyama K, Ikehara H, Toyoda M, Umezawa A, Miyashita T. Ikemoto Y, et al. Among authors: nagao k. J Med Genet. 2017 Aug;54(8):579-584. doi: 10.1136/jmedgenet-2016-104490. Epub 2017 Mar 31. J Med Genet. 2017. PMID: 28363938

2

Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase.

Okamura-Oho Y, Miyashita T, Nagao K, Shima S, Ogata Y, Katada T, Nishina H, Yamada M. Okamura-Oho Y, et al. Among authors: nagao k. Hum Mol Genet. 2003 Jul 1;12(13):1535-42. doi: 10.1093/hmg/ddg168. Hum Mol Genet. 2003. PMID: 12812981

3

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. 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

4

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. Genomics. 2005 Apr;85(4):462-71. doi: 10.1016/j.ygeno.2004.11.014. Genomics. 2005. PMID: 15780749

5

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: nagao k. 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

6

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. 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

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: nagao k. 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

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: nagao k. 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

9

EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.

Abe Y, Oka A, Mizuguchi M, Igarashi T, Ishikawa S, Aburatani H, Yokoyama S, Asahara H, Nagao K, Yamada M, Miyashita T. Abe Y, et al. Among authors: nagao k. Hum Mutat. 2009 Oct;30(10):E946-55. doi: 10.1002/humu.21094. Hum Mutat. 2009. PMID: 19606496

10

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.

Nagao K, Fujii K, Saito K, Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T. Nagao K, et al. Clin Genet. 2011 Feb;79(2):196-8. doi: 10.1111/j.1399-0004.2010.01527.x. Clin Genet. 2011. PMID: 21210781 No abstract available.

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