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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: koseki h. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 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: koseki h. Nat Med. 2007 Nov;13(11):1363-7. doi: 10.1038/nm1655. Epub 2007 Oct 21. Nat Med. 2007. PMID: 17952091
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: koseki h. PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5. PLoS One. 2008. PMID: 18985159 Free PMC article.
FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.
Harada M, Murakami H, Okawa A, Okimoto N, Hiraoka S, Nakahara T, Akasaka R, Shiraishi Y, Futatsugi N, Mizutani-Koseki Y, Kuroiwa A, Shirouzu M, Yokoyama S, Taiji M, Iseki S, Ornitz DM, Koseki H. Harada M, et al. Among authors: koseki h. Nat Genet. 2009 Mar;41(3):289-98. doi: 10.1038/ng.316. Epub 2009 Feb 15. Nat Genet. 2009. PMID: 19219044 Free PMC article.
A novel gene essential for the development of single positive thymocytes.
Kakugawa K, Yasuda T, Miura I, Kobayashi A, Fukiage H, Satoh R, Matsuda M, Koseki H, Wakana S, Kawamoto H, Yoshida H. Kakugawa K, et al. Among authors: koseki h. Mol Cell Biol. 2009 Sep;29(18):5128-35. doi: 10.1128/MCB.00793-09. Epub 2009 Jul 20. Mol Cell Biol. 2009. PMID: 19620281 Free PMC article.
KDEL receptor 1 regulates T-cell homeostasis via PP1 that is a key phosphatase for ISR.
Kamimura D, Katsunuma K, Arima Y, Atsumi T, Jiang JJ, Bando H, Meng J, Sabharwal L, Stofkova A, Nishikawa N, Suzuki H, Ogura H, Ueda N, Tsuruoka M, Harada M, Kobayashi J, Hasegawa T, Yoshida H, Koseki H, Miura I, Wakana S, Nishida K, Kitamura H, Fukada T, Hirano T, Murakami M. Kamimura D, et al. Among authors: koseki h. Nat Commun. 2015 Jun 17;6:7474. doi: 10.1038/ncomms8474. Nat Commun. 2015. PMID: 26081938 Free PMC article.
552 results