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532 results

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Page 1
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.
Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report.
Nagasaka T, Uchiyama K, Hama EY, Kojima D, Kaneko K, Yoshimoto N, Yasuda I, Yamada M, Miya F, Suzuki H, Tajima T, Yamaguchi S, Hayashi K, Kanda T, Hashiguchi A, Kosaki K, Itoh H. Nagasaka T, et al. Among authors: kosaki k. CEN Case Rep. 2024 Sep 30. doi: 10.1007/s13730-024-00935-6. Online ahead of print. CEN Case Rep. 2024. PMID: 39349897 Free article.
Clonal Hematopoiesis in Chronic Thromboembolic Pulmonary Hypertension.
Momoi M, Katsumata Y, Kunimoto H, Inami T, Miya F, Anzai A, Goto S, Miura A, Shinya Y, Hiraide T, Shirakawa K, Endo J, Fukuda K, Ieda M, Kosaki K, Nakajima H, Kataoka M. Momoi M, et al. Among authors: kosaki k. J Am Heart Assoc. 2024 Dec 3;13(23):e035498. doi: 10.1161/JAHA.124.035498. Epub 2024 Nov 27. J Am Heart Assoc. 2024. PMID: 39604025 Free 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.
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.
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
532 results