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The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T. Fukada T, et al. Among authors: ikegawa s. PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5. PLoS One. 2008. PMID: 18985159 Free PMC article.
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.
Bin BH, Hojyo S, Hosaka T, Bhin J, Kano H, Miyai T, Ikeda M, Kimura-Someya T, Shirouzu M, Cho EG, Fukue K, Kambe T, Ohashi W, Kim KH, Seo J, Choi DH, Nam YJ, Hwang D, Fukunaka A, Fujitani Y, Yokoyama S, Superti-Furga A, Ikegawa S, Lee TR, Fukada T. Bin BH, et al. Among authors: ikegawa s. EMBO Mol Med. 2014 Aug;6(8):1028-42. doi: 10.15252/emmm.201303809. EMBO Mol Med. 2014. PMID: 25007800 Free PMC article.
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S. Hiraoka S, et al. Among authors: ikegawa s. Nat Med. 2007 Nov;13(11):1363-7. doi: 10.1038/nm1655. Epub 2007 Oct 21. Nat Med. 2007. PMID: 17952091
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S. Dai J, et al. Among authors: ikegawa s. J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. J Hum Genet. 2010. PMID: 20505684 Review.
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S. Furuichi T, et al. Among authors: ikegawa s. J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037275
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: ikegawa s. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: ikegawa s. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 Free PMC article.
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: ikegawa s. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
624 results