日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report

一例年轻女性患者,携带新型从头TRAF3移码突变,对乌司奴单抗治疗有反应,并患有炎症性肠病:病例报告

Takeuchi, Ichiro; Taniguchi, Kosuke; Arai, Katsuhiro; Uchiyama, Toru; Terao, Miho; Hori, Asuka; Kawai, Toshinao; Yoshioka, Takako; Kyodo, Reiko; Shimizu, Hirotaka; Fujita, Satoshi; Motomura, Kenichiro; Okazaki, Yuka; Ishikawa, Takashi; Ogura, Masao; Hayashi, Kentaro; Matsumoto, Kenji; Takada, Shuji; Onodera, Masafumi; Morita, Hideaki; Hata, Kenichiro

Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey

日本A20单倍体功能不全的临床特征和治疗策略:一项全国流行病学调查

Shiraki, Mayuka; Kadowaki, Saori; Miwa, Yuki; Nishimura, Kenichi; Maruyama, Yuta; Kishida, Dai; Imagawa, Kazuo; Kobayashi, Chie; Takada, Hidetoshi; Mitsunaga, Kanako; Inoue, Yuzaburo; Ebato, Takasuke; Miyamoto, Takayuki; Hiejima, Eitaro; Sato, Shuzo; Migita, Kiyoshi; Matsubayashi, Tadashi; Kobayashi, Daisuke; Hasegawa, Eriko; Kaneko, Utako; Ishikawa, Takashi; Onodera, Masafumi; Matsushita, Kohei; Koike, Yuhki; Umebayashi, Hiroaki; Kakuta, Fumihiko; Abukawa, Daiki; Funakoshi, Yasutomo; Ishimura, Masataka; Otani, Yusuke; Nishizawa, Takuya; Ishige, Takashi; Hatori, Reiko; Tanaka, Seiji; Kusunoki, Shouichirou; Nakamura, Kimitoshi; Shirai, Harumi; Hatai, Yoshiho; Miyaoka, Futaba; Kaneko, Shuya; Shimbo, Asami; Shimizu, Masaki; Kanegane, Hirokazu; Hashimoto, Motomu; Negoro, Nobuo; Yoshida, Taro; Wada, Yasunori; Usami, Masaaki; Wada, Taizo; Izawa, Kazushi; Yasumi, Takahiro; Nishikomori, Ryuta; Ohnishi, Hidenori

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity

用于先天性免疫缺陷的非靶向蛋白质组学新生儿筛查平台

Shibata, Hirofumi; Nakajima, Daisuke; Konno, Ryo; Hijikata, Atsushi; Higashiguchi, Motoko; Nihira, Hiroshi; Shimodera, Saeko; Miyamoto, Takayuki; Nishitani-Isa, Masahiko; Hiejima, Eitaro; Izawa, Kazushi; Takita, Junko; Heike, Toshio; Okamura, Ken; Ohnishi, Hidenori; Ishimura, Masataka; Okada, Satoshi; Yamashita, Motoi; Morio, Tomohiro; Kanegane, Hirokazu; Imai, Kohsuke; Nakamura, Yasuko; Nonoyama, Shigeaki; Uchiyama, Toru; Onodera, Masafumi; Nishikomori, Ryuta; Ohara, Osamu; Kawashima, Yusuke; Yasumi, Takahiro

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]

对“新型粘多糖贮积症 II 型小鼠模型中顶骨成骨细胞分化增强”的更正[分子遗传学和代谢报告,第 37 卷,2023 年 12 月,101021]

Yamazaki, Narutoshi; Ohira, Mari; Takada, Shuji; Ohtake, Akira; Onodera, Masafumi; Nakanishi, Mahito; Okuyama, Torayuki; Mashima, Ryuichi

Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD

在逆转录病毒基因治疗X-CGD中,APOBEC3介导的CYBB失活导致克隆性造血后骨髓增生异常综合征。

Uchiyama, Toru; Kawai, Toshinao; Nakabayashi, Kazuhiko; Nakazawa, Yumiko; Goto, Fumihiro; Okamura, Kohji; Nishimura, Toyoki; Kato, Koji; Watanabe, Nobuyuki; Miura, Akane; Yasuda, Toru; Ando, Yukiko; Minegishi, Tomoko; Edasawa, Kaori; Shimura, Marika; Akiba, Yumi; Sato-Otsubo, Aiko; Mizukami, Tomoyuki; Kato, Motohiro; Akashi, Koichi; Nunoi, Hiroyuki; Onodera, Masafumi

Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study

elapegademase治疗腺苷脱氨酶缺乏症患者的安全性和有效性:一项多中心、开放标签、单臂、3期及上市后临床研究

Onodera, Masafumi; Uchiyama, Toru; Ariga, Tadashi; Yamada, Masafumi; Miyamura, Takako; Arizono, Hironori; Morio, Tomohiro

Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones

非条件性ADA-SCID基因治疗揭示了造血系统中ADA的需求以及载体标记克隆的克隆优势

Uchiyama, Toru; Takahashi, Sirirat; Nakabayashi, Kazuhiko; Okamura, Kohji; Edasawa, Kaori; Yamada, Masafumi; Watanabe, Nobuyuki; Mochizuki, Emi; Yasuda, Toru; Miura, Akane; Kato, Motohiro; Tomizawa, Daisuke; Otsu, Makoto; Ariga, Tadashi; Onodera, Masafumi

Aspects of Gene Therapy Products Using Current Genome-Editing Technology in Japan

日本利用现有基因组编辑技术开发的基因治疗产品概况

Yamaguchi, Teruhide; Uchida, Eriko; Okada, Takashi; Ozawa, Keiya; Onodera, Masafumi; Kume, Akihiro; Shimada, Takashi; Takahashi, Satoru; Tani, Kenzaburo; Nasu, Yasutomo; Mashimo, Tomoji; Mizuguchi, Hiroyuki; Mitani, Kohnosuke; Maki, Kazushige

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease

由TNFAIP3基因的新型无义变异或完全缺失引起的A20单倍体功能不全,其临床表现与白塞病截然不同。

Tsuchida, Naomi; Kirino, Yohei; Soejima, Yutaro; Onodera, Masafumi; Arai, Katsuhiro; Tamura, Eiichiro; Ishikawa, Takashi; Kawai, Toshinao; Uchiyama, Toru; Nomura, Shigeru; Kobayashi, Daisuke; Taguri, Masataka; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Nakajima, Hideaki; Miyatake, Satoko; Matsumoto, Naomichi

Foxo in T Cells Regulates Thermogenic Program through Ccr4/Ccl22 Axis

T细胞中的Foxo通过Ccr4/Ccl22轴调节产热程序

Kikuchi, Tetsuhiro; Nakae, Jun; Kawano, Yoshinaga; Watanabe, Nobuyuki; Onodera, Masafumi; Itoh, Hiroshi