Tsuchiya S - Search Results

1

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.

Kobayashi N, Agematsu K, Sugita K, Sako M, Nonoyama S, Yachie A, Kumaki S, Tsuchiya S, Ochs HD, Sugita K, Fukushima Y, Komiyama A. Kobayashi N, et al. Among authors: tsuchiya s. Hum Genet. 2003 Apr;112(4):348-52. doi: 10.1007/s00439-002-0897-x. Epub 2003 Feb 19. Hum Genet. 2003. PMID: 12592555

2

Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency.

Jo EK, Kook H, Uchiyama T, Hakozaki I, Kim YO, Song CH, Park JK, Kanegane H, Tsuchiya S, Kumaki S. Jo EK, et al. Among authors: tsuchiya s. Int J Hematol. 2004 Nov;80(4):332-5. doi: 10.1532/ijh97.04026. Int J Hematol. 2004. PMID: 15615257

3

B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID.

Kumaki S, Sasahara Y, Kamachi Y, Muramatsu H, Morio T, Goi K, Sugita K, Urabe T, Takada H, Kojima S, Tsuchiya S, Hara T. Kumaki S, et al. Among authors: tsuchiya s. Int J Hematol. 2013 Sep;98(3):355-60. doi: 10.1007/s12185-013-1408-7. Epub 2013 Aug 17. Int J Hematol. 2013. PMID: 23955111

4

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: tsuchiya s. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484

5

A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency.

Uchiyama T, Kumaki S, Fujiwara M, Nishida Y, Hakozaki I, Imai K, Du W, Yoshinari M, Sasahara Y, Tsuchiya S. Uchiyama T, et al. Among authors: tsuchiya s. Pediatr Int. 2005 Oct;47(5):575-8. doi: 10.1111/j.1442-200x.2005.02103.x. Pediatr Int. 2005. PMID: 16190968 No abstract available.

6

A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, Kawai S, Minegishi M, Ramesh N, Geha RS, Sasahara Y, Tsuchiya S. Du W, et al. Among authors: tsuchiya s. Hum Mutat. 2006 Apr;27(4):370-5. doi: 10.1002/humu.20308. Hum Mutat. 2006. PMID: 16511828

7

X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.

Jo EK, Kumaki S, Wei D, Tsuchiya S, Kanegane H, Song CH, Noh HY, Kim YO, Kim SY, Chung HY, Kim YH, Kook H. Jo EK, et al. Among authors: tsuchiya s. J Korean Med Sci. 2004 Feb;19(1):123-6. doi: 10.3346/jkms.2004.19.1.123. J Korean Med Sci. 2004. PMID: 14966353 Free PMC article.

8

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S. Sakamoto O, et al. Among authors: tsuchiya s. J Hum Genet. 2007;52(1):48-55. doi: 10.1007/s10038-006-0077-2. Epub 2006 Oct 31. J Hum Genet. 2007. PMID: 17075691

9

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.

Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H. Minegishi Y, et al. Among authors: tsuchiya s. Immunity. 2006 Nov;25(5):745-55. doi: 10.1016/j.immuni.2006.09.009. Immunity. 2006. PMID: 17088085 Free article.

10

Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells.

Saito M, Nagasawa M, Takada H, Hara T, Tsuchiya S, Agematsu K, Yamada M, Kawamura N, Ariga T, Tsuge I, Nonoyama S, Karasuyama H, Minegishi Y. Saito M, et al. Among authors: tsuchiya s. J Exp Med. 2011 Feb 14;208(2):235-49. doi: 10.1084/jem.20100799. Epub 2011 Feb 7. J Exp Med. 2011. PMID: 21300911 Free PMC article.

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