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A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
Oishi T, Iida A, Otsubo S, Kamatani Y, Usami M, Takei T, Uchida K, Tsuchiya K, Saito S, Ohnisi Y, Tokunaga K, Nitta K, Kawaguchi Y, Kamatani N, Kochi Y, Shimane K, Yamamoto K, Nakamura Y, Yumura W, Matsuda K. Oishi T, et al. Among authors: iida a. J Hum Genet. 2008;53(2):151-162. doi: 10.1007/s10038-007-0233-3. Epub 2008 Jan 25. J Hum Genet. 2008. PMID: 18219441
A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.
Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, Tanaka T, Tsunoda T, Oshima S, Sano M, Kamei T, Tokuda T, Aoki M, Hasegawa K, Mizoguchi K, Morita M, Takahashi Y, Katsuno M, Atsuta N, Watanabe H, Tanaka F, Kaji R, Nakano I, Kamatani N, Tsuji S, Sobue G, Nakamura Y, Ikegawa S. Iida A, et al. Hum Mol Genet. 2011 Sep 15;20(18):3684-92. doi: 10.1093/hmg/ddr268. Epub 2011 Jun 10. Hum Mol Genet. 2011. PMID: 21665992
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
Ogura Y, Kou I, Miura S, Takahashi A, Xu L, Takeda K, Takahashi Y, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yonezawa I, Yanagida H, Taneichi H, Zhu Z, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Hosogane N, Okada E, Iida A, Nakajima M, Sudo A, Chiba K, Hiraki Y, Toyama Y, Qiu Y, Shukunami C, Kamatani Y, Kubo M, Matsumoto M, Ikegawa S. Ogura Y, et al. Among authors: iida a. Am J Hum Genet. 2015 Aug 6;97(2):337-42. doi: 10.1016/j.ajhg.2015.06.012. Epub 2015 Jul 23. Am J Hum Genet. 2015. PMID: 26211971 Free PMC article.
671 results