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An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
Kimura T, Bosakova M, Nonaka Y, Hruba E, Yasuda K, Futakawa S, Kubota T, Fafilek B, Gregor T, Abraham SP, Gomolkova R, Belaskova S, Pesl M, Csukasi F, Duran I, Fujiwara M, Kavkova M, Zikmund T, Kaiser J, Buchtova M, Krakow D, Nakamura Y, Ozono K, Krejci P. Kimura T, et al. Sci Transl Med. 2021 May 5;13(592):eaba4226. doi: 10.1126/scitranslmed.aba4226. Sci Transl Med. 2021. PMID: 33952673
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, Okada M, Fujita K, Sawai H, Ikegawa S, Tsumaki N. Yamashita A, et al. Among authors: kimura t. Nature. 2014 Sep 25;513(7519):507-11. doi: 10.1038/nature13775. Epub 2014 Sep 17. Nature. 2014. PMID: 25231866
Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood.
Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T, Tachibana M, Bessho K, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa T, Ozono K. Onuma S, et al. Among authors: kimura t. Clin Pediatr Endocrinol. 2021;30(3):143-148. doi: 10.1297/cpe.30.143. Epub 2021 Jul 10. Clin Pediatr Endocrinol. 2021. PMID: 34285457 Free PMC article.
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