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ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Nakamura Y, Hata A. Onouchi Y, et al. Among authors: fukushima y. Nat Genet. 2008 Jan;40(1):35-42. doi: 10.1038/ng.2007.59. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084290 Free PMC article.
CD40 ligand gene and Kawasaki disease.
Onouchi Y, Onoue S, Tamari M, Wakui K, Fukushima Y, Yashiro M, Nakamura Y, Yanagawa H, Kishi F, Ouchi K, Terai M, Hamamoto K, Kudo F, Aotsuka H, Sato Y, Nariai A, Kaburagi Y, Miura M, Saji T, Kawasaki T, Nakamura Y, Hata A. Onouchi Y, et al. Among authors: fukushima y. Eur J Hum Genet. 2004 Dec;12(12):1062-8. doi: 10.1038/sj.ejhg.5201266. Eur J Hum Genet. 2004. PMID: 15367912
Common variants in CASP3 confer susceptibility to Kawasaki disease.
Onouchi Y, Ozaki K, Buns JC, Shimizu C, Hamada H, Honda T, Terai M, Honda A, Takeuchi T, Shibuta S, Suenaga T, Suzuki H, Higashi K, Yasukawa K, Suzuki Y, Sasago K, Kemmotsu Y, Takatsuki S, Saji T, Yoshikawa T, Nagai T, Hamamoto K, Kishi F, Ouchi K, Sato Y, Newburger JW, Baker AL, Shulman ST, Rowley AH, Yashiro M, Nakamura Y, Wakui K, Fukushima Y, Fujino A, Tsunoda T, Kawasaki T, Hata A, Nakamura Y, Tanaka T. Onouchi Y, et al. Among authors: fukushima y. Hum Mol Genet. 2010 Jul 15;19(14):2898-906. doi: 10.1093/hmg/ddq176. Epub 2010 Apr 27. Hum Mol Genet. 2010. PMID: 20423928 Free PMC article.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: fukushima y. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: fukushima y. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.
1,631 results