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Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, Adachi M, Ikeda R, Nomura Y, Takayama J, Kawashima J, Katsuoka F, Fujishima F, Yamaguchi T, Ito A, Hanita T, Kanno J, Aizawa T, Nakazawa T, Kawase T, Tamiya G, Yamamoto M, Fujiwara I, Kure S. Saito-Hakoda A, et al. Among authors: fujiwara i. J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w. Epub 2022 Dec 15. J Bone Miner Metab. 2023. PMID: 36520195 Review.
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
Kakisaka Y, Haginoya K, Takahashi Y, Ochiai T, Fujiwara I, Kikuchi A, Wakusawa K, Kobayashi S, Kikuchi H, Ichihara Y, Takahashi S, Nishino I. Kakisaka Y, et al. Among authors: fujiwara i. Am J Med Genet A. 2013 Jan;161A(1):234-5. doi: 10.1002/ajmg.a.35678. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239586 No abstract available.
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H, Kitaoka T, Kubota T, Kanno J, Mochizuki H, Michigami T, Hasegawa K, Fujiwara I, Hamajima T, Harada D, Seki Y, Nagasaki K, Dateki S, Namba N, Tokuoka H, Pimenta JM, Cohen S, Ozono K. Saitou H, et al. Among authors: fujiwara i. Am J Med Genet A. 2024 Mar 30:e63612. doi: 10.1002/ajmg.a.63612. Online ahead of print. Am J Med Genet A. 2024. PMID: 38554024
Phase separation of an actin nucleator by junctional microtubules regulates epithelial function.
Tsukita K, Kitamata M, Kashihara H, Yano T, Fujiwara I, Day TF, Katsuno T, Kim J, Takenaga F, Tanaka H, Park S, Miyata M, Watanabe H, Kondoh G, Takahashi R, Tamura A, Tsukita S. Tsukita K, et al. Among authors: fujiwara i. Sci Adv. 2023 Feb 15;9(7):eadf6358. doi: 10.1126/sciadv.adf6358. Epub 2023 Feb 15. Sci Adv. 2023. PMID: 36791197 Free PMC article.
190 results