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

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

MMD2基因的单等位基因突变会导致常染色体显性遗传的侵袭性牙周炎

Iwata Tomoyuki, Mizoguchi Yoko, Yoshimoto Tetsuya, Tsumura Miyuki, Sakura Fumiaki, Johnson Jeffrey R, Matsuda Shinji, Ouhara Kazuhisa, Nagatani Yukiko, Asano Takaki, Ohnishi Hidenori, Kato Zenichiro, Mihara Keichiro, Kanegane Hirokazu, Ueda Tomoya, Sasaki Shinya, Taniguchi Yuri, Ninomiya Yurika, Ohno Yoshinori, Suzuki-Takedachi Kyoko, Sotomaru Yusuke, Sakuma Tetsushi, Yamamoto Takashi, Matsuda Yukiko, Kume Kodai, Sanui Terukazu, Nishimura Fusanori, Kajiya Mikihito, Ueki Yasuyoshi, Kurihara Hidemi, Morino Hiroyuki, Okada Satoshi, Kawakami Hideshi, Mizuno Noriyoshi

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

精细定位导致常染色体显性高IgE综合征的杂合IL6ST无义变异

Ashihara Kosuke, Asano Takaki, Takeuchi Kanako, Noma Kosuke, Tsumura Miyuki, Wang Wenjie, Lei Wei-Te, Higo Hisao, Kubo Toshio, Mizoguchi Yoko, Karakawa Shuhei, Cobat Aurélie, Conil Clément, Toyofuku Etsushi, Sekine Akimasa, Imai Kohsuke, Bogunovic Dusan, Casanova Jean-Laurent, Ku Cheng-Lung, Béziat Vivien, Okada Satoshi

Effectiveness of PK-Guided Personalized Recombinant FVIII Treatment in Patients with Hemophilia A: Clinical Case Experiences Based on an Observational Study

基于观察性研究的PK指导下个体化重组FVIII治疗A型血友病患者的疗效:临床病例经验

Mizoguchi, Yoko; Hino, Moeko; Ueda, Hitoshi; Miyaguchi, Yasuo; Kobayashi, Masao

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

常染色体显性遗传E47缺乏症中p.E555K显性负性变异的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

更正:p.E555K显性负性变异在常染色体显性E47缺乏症中的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Epilepsy and Other Neurological Complications in Pediatric Patients With Hemophilia Complicated With Intracranial Hemorrhage: A Retrospective Case Series

血友病合并颅内出血患儿的癫痫及其他神经系统并发症:回顾性病例系列研究

Eguchi, Yuta; Ishikawa, Nobutsune; Kobayashi, Yoshiyuki; Mizoguchi, Yoko; Okada, Satoshi

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

SRP19 和 SRPRA 基因的人类遗传缺陷会导致严重的先天性中性粒细胞减少症,并伴有独特的蛋白质组变化。

Linder, Monika I; Mizoguchi, Yoko; Hesse, Sebastian; Csaba, Gergely; Tatematsu, Megumi; Łyszkiewicz, Marcin; Ziȩtara, Natalia; Jeske, Tim; Hastreiter, Maximilian; Rohlfs, Meino; Liu, Yanshan; Grabowski, Piotr; Ahomaa, Kaarin; Maier-Begandt, Daniela; Schwestka, Marko; Pazhakh, Vahid; Isiaku, Abdulsalam I; Briones Miranda, Brenda; Blombery, Piers; Saito, Megumu K; Rusha, Ejona; Alizadeh, Zahra; Pourpak, Zahra; Kobayashi, Masao; Rezaei, Nima; Unal, Ekrem; Hauck, Fabian; Drukker, Micha; Walzog, Barbara; Rappsilber, Juri; Zimmer, Ralf; Lieschke, Graham J; Klein, Christoph

A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis

利用蛋白质基因组分析进行先天性免疫缺陷基因诊断的补充方法

Sakura, Fumiaki; Noma, Kosuke; Asano, Takaki; Tanita, Kay; Toyofuku, Etsushi; Kato, Kentaro; Tsumura, Miyuki; Nihira, Hiroshi; Izawa, Kazushi; Mitsui-Sekinaka, Kanako; Konno, Ryo; Kawashima, Yusuke; Mizoguchi, Yoko; Karakawa, Shuhei; Hayakawa, Seiichi; Kawaguchi, Hiroshi; Imai, Kohsuke; Nonoyama, Shigeaki; Yasumi, Takahiro; Ohnishi, Hidenori; Kanegane, Hirokazu; Ohara, Osamu; Okada, Satoshi

HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation

HAX1依赖的线粒体蛋白稳态调控中性粒细胞分化

Fan, Yanxin; Murgia, Marta; Linder, Monika I; Mizoguchi, Yoko; Wang, Cong; Łyszkiewicz, Marcin; Ziȩtara, Natalia; Liu, Yanshan; Frenz, Stephanie; Sciuccati, Gabriela; Partida-Gaytan, Armando; Alizadeh, Zahra; Rezaei, Nima; Rehling, Peter; Dennerlein, Sven; Mann, Matthias; Klein, Christoph

Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19

日本重症新冠肺炎患者体内I型干扰素自身抗体的中和作用

Eto, Shohei; Nukui, Yoko; Tsumura, Miyuki; Nakagama, Yu; Kashimada, Kenichi; Mizoguchi, Yoko; Utsumi, Takanori; Taniguchi, Maki; Sakura, Fumiaki; Noma, Kosuke; Yoshida, Yusuke; Ohshimo, Shinichiro; Nagashima, Shintaro; Okamoto, Keisuke; Endo, Akifumi; Imai, Kohsuke; Kanegane, Hirokazu; Ohnishi, Hidenori; Hirata, Shintaro; Sugiyama, Eiji; Shime, Nobuaki; Ito, Masanori; Ohge, Hiroki; Kido, Yasutoshi; Bastard, Paul; Casanova, Jean-Laurent; Ohara, Osamu; Tanaka, Junko; Morio, Tomohiro; Okada, Satoshi