Rchr
J-GLOBAL ID：201901003296267338
Update date: Nov. 08, 2024
Miyuki Tsumura
ツムラ ミユキ | Miyuki Tsumura
Affiliation and department：
Research field (1)：
Fetal medicine/Pediatrics
Research keywords (1)：
原発性免疫不全症 STAT1 メンデル遺伝型マイコバクテリア易感染症 慢性皮膚粘膜カンジダ症 重症先天性好中球減少症 遺伝子 ELANE 遺伝子 自然免疫
Research theme for competitive and other funds (14)：
- 2022 - 2025 Characterization of molecular pathogenesis of primary immunodeficiency focusing on host susceptibility to viruses
- 2020 - 2023 ユビキチン修飾異常による複合免疫不全症の病態解明
- 2019 - 2022 Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogens
- 2018 - 2021 Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiency
- 2018 - 2021 Gene editing for the study of severe congenital neutropenia
- 2017 - 2020 Molecular pathological analysis of infectious disease development using gain-of-function STAT1 knock-in mice.
- 2016 - 2019 Investigation of molecular mechanism and therapeutic target of Chronic Mucocutaneous Candidiasis
- 2016 - 2018 Development of the treatment by investigating the mechanism of disseminated BCG in patients with RORgT deficiency
- 2015 - 2017 Augmentation of osteoclast formation and its function in patients with IFN-g signaling abnormality
- 2014 - 2017 Evaluation of acute-onset risk of MCAD deficiency found by newborn screening
- 2013 - 2016 Gene editing of iPS cells derived from patients with congenital phagocytic disorders
- 2013 - 2015 Establishment of mouse model of chronic mucocutaneous candidiasis disease and use them to find therapeutic target
- 2013 - 2015 Analysis of bone remodeling using iPS cells derived from the patients with phagocyte signal transduction defects
- 2010 - 2012 Familial hyperleucinemia with normal branched-chain α-ketoacid dehydrogenase activity suggesting novel mechanism of thiamin-responsive maple syrup urine disease
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Papers (106)：
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Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V Parent, Alessandra Pescatore, Ezia Spinosa, et al. Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. The Journal of experimental medicine. 2024. 221. 11
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Ran Chen, Huilin Mu, Xuemei Chen, Miyuki Tsumura, Lina Zhou, Xinhui Jiang, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Yanjun Jia, et al. Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations. Journal of clinical immunology. 2024. 44. 5. 124-124
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Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada. 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. International Journal of Neonatal Screening. 2024
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Aidé Tamara Staines-Boone, Pandiarajan Vignesh, Miyuki Tsumura, Germán de la Garza Fernández, Reva Tyagi, Amit Rawat, Jhumki Das, Dan Tomomasa, Takaki Asano, Atsushi Hijikata, et al. Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function. Journal of clinical immunology. 2023. 44. 1. 20-20
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Shuya Kaneko, Fumiaki Sakura, Kay Tanita, Asami Shimbo, Ryusuke Nambu, Masashi Yoshida, Shuichiro Umetsu, Ayano Inui, Chizuru Okada, Miyuki Tsumura, et al. Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy Advances. 2023
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MISC (71)：
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江藤 昌平, 津村 弥来, 永島 慎太郎, Bastard Paul, 岡本 圭祐, 鹿島田 健一, 遠藤 明史, 溝口 洋子, 田中 純子, 中釜 悠, et al. 本邦におけるI型インターフェロンに対する自己抗体とCOVID-19重症化の関連性の検討. 日本臨床免疫学会総会プログラム・抄録集. 2022. 50回. 112-112
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岡田賢, 今中雄介, 津村弥来, 落合博, 中田慎一郎, 小原收, 山本卓, 小林正夫. ELANE変異アレル破壊による遺伝子治療の検討. 日本小児科学会雑誌. 2019. 123. 2. 212
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岡田賢, 浅野孝基, 津村弥来. PDS(activated PI3Kδ syndrome)の迅速診断の確立と病態解明. 母子健康協会小児医学助成研究報告書. 2017. 28th. 22-23
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岡田賢, 津村弥来, 小林正夫. ヘルパーT細胞の制御と代謝 RORγT機能欠損による原発性免疫不全症. 月刊臨床免疫・アレルギー科. 2017. 67. 2. 147-153
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香川 礼子, 岡田 賢, 藤木 亮次, 津村 弥来, 坂田 園子, 西村 志帆, 加藤 善一郎, 大西 秀典, 小原 收, 小林 正夫. 網羅的アラニンスキャニングを用いたSTAT1変異データベースの確立. 日本小児科学会雑誌. 2017. 121. 2. 497-497
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Professional career (1)：
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