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De novo SOX11 mutations cause Coffin-Siris syndrome.
Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: kou i. Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. Nat Commun. 2014. PMID: 24886874 Free article.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD Collaboration; Kühl SJ, Kini U, McNeill A. Hempel A, et al. Among authors: kou i. J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5. J Med Genet. 2016. PMID: 26543203 Free PMC article.
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.
Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S. Ogura Y, et al. Among authors: kou i. PLoS One. 2015 Nov 6;10(11):e0142126. doi: 10.1371/journal.pone.0142126. eCollection 2015. PLoS One. 2015. PMID: 26545093 Free PMC article.
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.
Ogura Y, Yabuki S, Iida A, Kou I, Nakajima M, Kano H, Shiina M, Kikuchi S, Toyama Y, Ogata K, Nakamura M, Matsumoto M, Ikegawa S. Ogura Y, et al. Among authors: kou i. PLoS One. 2013 Nov 22;8(11):e80548. doi: 10.1371/journal.pone.0080548. eCollection 2013. PLoS One. 2013. PMID: 24278289 Free PMC article.
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group; Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Takeda K, et al. Among authors: kou i. Hum Mutat. 2017 Mar;38(3):317-323. doi: 10.1002/humu.23168. Epub 2017 Jan 18. Hum Mutat. 2017. PMID: 28054739
Expression and regulation of the osteoarthritis-associated protein asporin.
Kou I, Nakajima M, Ikegawa S. Kou I, et al. J Biol Chem. 2007 Nov 2;282(44):32193-9. doi: 10.1074/jbc.M706262200. Epub 2007 Sep 5. J Biol Chem. 2007. PMID: 17804408 Free article.
Previously, we showed that asporin can inhibit transforming growth factor-beta1 (TGF-beta1)-mediated expression of cartilage matrix genes and chondrogenesis in vitro (Kizawa, H., Kou, I., Iida, A., Sudo, A., Miyamoto, Y., Fukuda, A., Mabuchi, A., Kotani, A., Kawakam …
Previously, we showed that asporin can inhibit transforming growth factor-beta1 (TGF-beta1)-mediated expression of cartilage matrix genes an …
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. Wang Z, et al. Among authors: kou i. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016. PLoS One. 2016. PMID: 26974433 Free PMC article.
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.
Nakajima M, Kou I, Ohashi H; Genetic Study Group of the Investigation Committee on the Ossification of Spinal Ligaments; Ikegawa S. Nakajima M, et al. Among authors: kou i. Am J Hum Genet. 2016 Jul 7;99(1):202-7. doi: 10.1016/j.ajhg.2016.05.018. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374772 Free PMC article.
58 results