Kohno Y - 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: kohno y. 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

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: kohno y. 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

3

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: kohno y. Hum Genet. 2007 Dec;122(5):459-66. doi: 10.1007/s00439-007-0419-y. Epub 2007 Aug 17. Hum Genet. 2007. PMID: 17703323

4

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: kohno y. 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

5

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: kohno y. Hum Mutat. 2003 Apr;21(4):451-2. doi: 10.1002/humu.9132. Hum Mutat. 2003. PMID: 12655573

6

[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].

Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y. Endo M, et al. Among authors: kohno y. No To Hattatsu. 2009 Jul;41(4):259-63. No To Hattatsu. 2009. PMID: 19618880 Japanese.

7

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.

Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T. Endo M, et al. Among authors: kohno y. Am J Med Genet A. 2012 Feb;158A(2):351-7. doi: 10.1002/ajmg.a.34421. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246785

8

Gorlin syndrome with ulcerative colitis in a Japanese girl.

Fujii K, Miyashita T, Omata T, Kobayashi K, Takanashi J, Kouchi K, Yamada M, Kohno Y. Fujii K, et al. Among authors: kohno y. Am J Med Genet A. 2003 Aug 15;121A(1):65-8. doi: 10.1002/ajmg.a.20082. Am J Med Genet A. 2003. PMID: 12900905

9

Gamma-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinoma syndrome-derived cells.

Fujii K, Miyashita T, Takanashi J, Sugita K, Kohno Y, Nishie H, Yasumoto S, Furue M, Yamada M. Fujii K, et al. Among authors: kohno y. Jpn J Cancer Res. 1999 Dec;90(12):1351-7. doi: 10.1111/j.1349-7006.1999.tb00719.x. Jpn J Cancer Res. 1999. PMID: 10665653 Free PMC article.

10

Detection of 14-3-3 protein in the cerebrospinal fluid in mitochondrial encephalopathy with lactic acidosis and stroke-like episodes.

Fujii K, Tanabe Y, Kobayashi K, Uchikawa H, Kohno Y. Fujii K, et al. Among authors: kohno y. J Neurol Sci. 2005 Dec 15;239(1):115-8. doi: 10.1016/j.jns.2005.08.007. Epub 2005 Oct 5. J Neurol Sci. 2005. PMID: 16213527

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