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Page 1
Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.
Tomomasa D, Takagi M, Watanabe R, Wakatsuki R, Miyamoto S, Hoshino A, Kamiya T, Isoda T, Kobayashi A, Kosaki K, Sakura F, Asano T, Uchiyama T, Okada S, Morio T, Kanegane H. Tomomasa D, et al. Among authors: kosaki k. Clin Immunol. 2025 Jan;270:110405. doi: 10.1016/j.clim.2024.110405. Epub 2024 Nov 26. Clin Immunol. 2025. PMID: 39592026
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.
Kaneko S, Sakura F, Tanita K, Shimbo A, Nambu R, Yoshida M, Umetsu S, Inui A, Okada C, Tsumura M, Yamada M, Suzuki H, Kosaki K, Ohara O, Shimizu M, Morio T, Okada S, Kanegane H. Kaneko S, et al. Among authors: kosaki k. Immunother Adv. 2023 Nov 24;3(1):ltad027. doi: 10.1093/immadv/ltad027. eCollection 2023. Immunother Adv. 2023. PMID: 38549698 Free PMC article.
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H. Yamaguchi Y, et al. Among authors: kosaki k. Congenit Anom (Kyoto). 2025 Jan-Dec;65(1):e12587. doi: 10.1111/cga.12587. Congenit Anom (Kyoto). 2025. PMID: 39617394 Free PMC article.
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.
Sugeno N, Kumada S, Kashii H, Ikezawa J, Kawarai T, Nakamura T, Miyata A, Ishiyama S, Sato K, Yoshida S, Sekiguchi H, Hamanaka K, Miyatake S, Miyake N, Matsumoto N, Akagawa H, Kosaki K, Yoshihashi H, Hasegawa T, Aoki M. Sugeno N, et al. Among authors: kosaki k. Parkinsonism Relat Disord. 2024 Jul;124:107018. doi: 10.1016/j.parkreldis.2024.107018. Epub 2024 May 27. Parkinsonism Relat Disord. 2024. PMID: 38810319 Free article.
532 results