Study of molecular pathology in which STAT1 gain-of-function mutations cause autoimmune endocrine disorders

STAT1功能获得性突变导致自身免疫内分泌紊乱的分子病理学研究

• 批准号: 19K17301
• 负责人: Kagawa Reiko
• 金额: $ 2.75万
• 依托单位: Hiroshima University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Early-Career Scientists
• 财政年份: 2019
• 资助国家: 日本
• 起止时间: 2019-04-01 至 2022-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-19K17301/
• 关键词: STAT1-GOF; CMCD; 複合型免疫不全症; 脱リン酸化酵素; ISG; STAT1; 脱リン酸化障害; STAT1 GOF変異; T385M; R274Q; STAT1GOF変異; 慢性皮膚粘膜カンジダ症(CMCD); 機能獲得型変異

项目成果

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

复合杂合内含子突变引起的常染色体隐性遗传完全 STAT1 缺陷

• DOI: 10.1093/intimm/dxaa043
• 发表时间: 2020
• 影响因子: 4.4
• 作者: Sakata Sonoko;Tsumura Miyuki;Matsubayashi Tadashi;Karakawa Shuhei;Kimura Shunsuke;Tamaura Moe;Okano Tsubasa;Naruto Takuya;Mizoguchi Yoko;Kagawa Reiko;Nishimura Shiho;Imai Kohsuke;Le Voyer Tom;Casanova Jean;Bustamante Jacinta;Morio Tomohiro;Ohara O
• 通讯作者: Ohara O

Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ

由于对 IFN-γ 的反应受损，MSMD 患者的破骨细胞生成增强

• DOI: 10.1016/j.jaci.2021.05.018
• 发表时间: 2022
• 影响因子: 14.2
• 作者: Tsumura Miyuki;Miki Mizuka;Mizoguchi Yoko;Hirata Osamu;Nishimura Shiho;Tamaura Moe;Kagawa Reiko;Hayakawa Seiichi;Kobayashi Masao;Okada Satoshi
• 通讯作者: Okada Satoshi

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

新生儿腺苷钴胺合成途径缺陷引起的甲基丙二酸血症和同型半胱氨酸再甲基化缺陷引起的同型半胱氨酸尿症的初步研究

• DOI: 10.3390/ijns7030039
• 发表时间: 2021
• 影响因子: 3.5
• 作者: Kagawa Reiko;Tajima Go;Maeda Takako;Sakura Fumiaki;Nakamura;Hara Keiichi;Nishimura Yutaka;Yuasa Miori;Shigematsu Yosuke;Tanaka Hiromi;Fujihara Saki;Yoshii Chiyoko;Okada Satoshi
• 通讯作者: Okada Satoshi

Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings

一名患有外口皮炎侵袭性疾病的儿童和两个年长但无症状的兄弟姐妹患有遗传性 CARD9 缺陷

• DOI: 10.1007/s10875-021-00988-7
• 发表时间: 2021
• 影响因子: 9.1
• 作者: Imanaka Yusuke;Taniguchi Maki;Doi Takehiko;Tsumura Miyuki;Nagaoka Rie;Shimomura Maiko;Asano Takaki;Kagawa Reiko;Mizoguchi Yoko;Karakawa Shuhei;Arihiro Koji;Imai Kohsuke;Morio Tomohiro;Casanova Jean;Puel Anne;Ohara Osamu;Kamei Katsuhiko;Kobayashi M
• 通讯作者: Kobayashi M

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant

日本新生儿丙酸血症筛查现状：常见 PCCB 变体引起的轻度疾病患者发病率出乎意料地高

• DOI: 10.3390/ijns7030035
• 发表时间: 2021
• 影响因子: 3.5
• 作者: Tajima Go;Kagawa Reiko;Sakura Fumiaki;Nakamura;Hara Keiichi;Yuasa Miori;Hasegawa Yuki;Sasai Hideo;Okada Satoshi
• 通讯作者: Okada Satoshi