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Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain.
Takeuchi A, Iida K, Tsubota T, Hosokawa M, Denawa M, Brown JB, Ninomiya K, Ito M, Kimura H, Abe T, Kiyonari H, Ohno K, Hagiwara M. Takeuchi A, et al. Among authors: hosokawa m. Cell Rep. 2018 May 1;23(5):1326-1341. doi: 10.1016/j.celrep.2018.03.141. Cell Rep. 2018. PMID: 29719248 Free article.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M, Hayashi S, Komaki H, Mori-Yoshimura M, Oya Y, Takahashi Y, Fukuyama T, Funato M, Hosokawa Y, Kinoshita S, Matsumura T, Nakamura S, Oshiro A, Terashima H, Nagasawa T, Sato T, Shimada Y, Tokita Y, Hagiwara M, Ogata K, Nishino I. Okubo M, et al. Among authors: hosokawa m, hosokawa y. Hum Genet. 2023 Jan;142(1):59-71. doi: 10.1007/s00439-022-02485-2. Epub 2022 Sep 1. Hum Genet. 2023. PMID: 36048237
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M. Ohara H, et al. Among authors: hosokawa m. Mol Ther Nucleic Acids. 2023 Jul 17;33:404-412. doi: 10.1016/j.omtn.2023.07.011. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547287 Free PMC article.
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R, Saito Y, Awaya T, Minami N, Kurosawa R, Hosokawa M, Ohara H, Hayashi S, Takeuchi A, Hagiwara M, Hayashi YK, Noguchi S, Nishino I. Shimazaki R, et al. Among authors: hosokawa m. Orphanet J Rare Dis. 2025 Jan 4;20(1):1. doi: 10.1186/s13023-024-03521-2. Orphanet J Rare Dis. 2025. PMID: 39755676 Free PMC article.
1,275 results