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收藏Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome ― Insights Into Splice Error Correction ―Brugada综合征相关SCN5A剪接改变变异体的表征——剪接错误纠正的见解——
Jinzai, Hideyuki; Kato, Koichi; Sawayama, Yuichi; Makiyama, Takeru; Kurosawa, Ryo; Kida, Ryotaro; Ohno, Seiko; Nakagawa, Yoshihisa; Ajiro, Masahiko; Hagiwara, Masatoshi; Horie, Minoru 分享 收藏 分享 收藏 Substitutions of nucleotides at the 3′ ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategiesCOL6A1/2/3外显子3′末端的核苷酸替换会诱导外显子跳读，这与VI型胶原相关肌营养不良症及治疗策略相关。Lee, Seung-Ah; Ogawa, Megumu; Saito, Yoshihiko; Shimazaki, Rui; Awaya, Tomonari; Hosokawa, Motoyasu; Kurosawa, Ryo; Ohara, Hiroaki; Takeuchi, Akihide; Hayashi, Shinichiro; Goto, Yu-ichi; Hagiwara, Masatoshi; Nishino, Ichizo; Noguchi, Satoru 分享 收藏 The novel compound PICCS improves cell viability during cold storage and reduces pulmonary ischemia-reperfusion injury in a rat model新型化合物PICCS在冷储存期间提高细胞活力，并降低大鼠模型中的肺缺血再灌注损伤。Yokoyama, Yuhei; Toyomoto, Masayasu; Tanaka, Nobuo; Tanaka, Satona; Nishikawa, Shigeto; Kayawake, Hidenao; Morimura, Yuki; Oda, Hiromi; Yamauchi, Momono; Yamamoto, Makoto; Chen-Yoshikawa, Toyofumi F.; Hagiwara, Masatoshi; Date, Hiroshi 分享 收藏 Profiling of pathogenic variants in Japanese patients with sarcoglycanopathyShimazaki, Rui; Saito, Yoshihiko; Awaya, Tomonari; Minami, Narihiro; Kurosawa, Ryo; Hosokawa, Motoyasu; Ohara, Hiroaki; Hayashi, Shinichiro; Takeuchi, Akihide; Hagiwara, Masatoshi; Hayashi, Yukiko K.; Noguchi, Satoru; Nishino, Ichizo 分享 收藏 分享 收藏 Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndromeYano, Naoko; Chong, Pin Fee; Kojima, Kenji K.; Miyoshi, Tomoichiro; Luqmen-Fatah, Ahmad; Kimura, Yu; Kora, Kengo; Kayaki, Taisei; Maizuru, Kanako; Hayashi, Takahiro; Yokoyama, Atsushi; Ajiro, Masahiko; Hagiwara, Masatoshi; Kondo, Teruyuki; Kira, Ryutaro; Takita, Junko; Yoshida, Takeshi 分享 收藏 分享 收藏 Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegenerationYamada, Mamiko; Maeta, Kazuhiro; Suzuki, Hisato; Kurosawa, Ryo; Takenouchi, Toshiki; Awaya, Tomonari; Ajiro, Masahiko; Takeuchi, Atsuko; Nishio, Hisahide; Hagiwara, Masatoshi; Miya, Fuyuki; Matsuo, Masafumi; Kosaki, Kenjiro 分享 收藏 Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams SyndromeHirai, Masahiro; Ikeda, Ayaka; Kato, Takeo; Ikeda, Takahiro; Asada, Kosuke; Hakuno, Yoko; Matsushima, Kanae; Awaya, Tomonari; Okazaki, Shin; Kato, Toshihiro; Heike, Toshio; Hagiwara, Masatoshi; Yamagata, Takanori; Tomiwa, Kiyotaka; Kimura, Ryo 分享 收藏 分享 收藏 Branchpoints as potential targets of exon-skipping therapies for genetic disordersOhara, Hiroaki; Hosokawa, Motoyasu; Awaya, Tomonari; Hagiwara, Atsuko; Kurosawa, Ryo; Sako, Yukiya; Ogawa, Megumu; Ogasawara, Masashi; Noguchi, Satoru; Goto, Yuichi; Takahashi, Ryosuke; Nishino, Ichizo; Hagiwara, Masatoshi 分享 收藏 分享 收藏 Antagonist of sphingosine 1-phosphate receptor 3 reduces cold injury of rat donor hearts for transplantation1-磷酸鞘氨醇受体3拮抗剂减轻大鼠供体心脏移植冷损伤Kanemitsu, Eisho; Zhao, Xiangdong; Iwaisako, Keiko; Inoue, Asuka; Takeuchi, Akihide; Yagi, Shintaro; Masumoto, Hidetoshi; Ohara, Hiroaki; Hosokawa, Motoyasu; Awaya, Tomonari; Aoki, Junken; Hatano, Etsuro; Uemoto, Shinji; Hagiwara, Masatoshi 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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