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Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G, Aisaki J, Hara K, Tsumura M, Kagawa R, Sakura F, Sasai H, Yuasa M, Shigematsu Y, Okada S. Tajima G, et al. Among authors: sasai h. Int J Neonatal Screen. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015. Int J Neonatal Screen. 2024. PMID: 38390979 Free PMC article.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Hijikata A, et al. Among authors: sasai h. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: sasai h. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment.
Tozaki N, Tawada C, Niwa H, Mizutani Y, Shu E, Kawase A, Miwa Y, Ohnishi H, Sasai H, Miyako K, Hosokawa J, Kato A, Kobayashi K, Miyazaki T, Shirakami Y, Shimizu M, Iwata H. Tozaki N, et al. Among authors: sasai h. Front Med (Lausanne). 2022 Dec 5;9:1046820. doi: 10.3389/fmed.2022.1046820. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36544501 Free PMC article.
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Osawa Y, Kobayashi H, Tajima G, Hara K, Yamada K, Fukuda S, Hasegawa Y, Aisaki J, Yuasa M, Hata I, Okada S, Shigematsu Y, Sasai H, Fukao T, Takizawa T, Yamaguchi S, Taketani T. Osawa Y, et al. Among authors: sasai h. Mol Genet Metab. 2022 May;136(1):74-79. doi: 10.1016/j.ymgme.2022.03.009. Epub 2022 Mar 25. Mol Genet Metab. 2022. PMID: 35400565
54 results