• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation.

作者信息

Tanimura Muneyoshi, Dohi Kaoru, Hirayama Masahiro, Sato Yuichi, Sugiura Emiyo, Nakajima Hiroshi, Kanemitsu Shinji, Toyoda Hidemi, Yamada Norikazu, Masuya Masahiro, Imanaka-Yoshida Kyoko, Shimpo Hideto, Azuma Eiichi, Ito Masaaki

机构信息

Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Japan.

Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Japan.

出版信息

Int J Cardiol. 2015 Oct 1;196:88-90. doi: 10.1016/j.ijcard.2015.05.183. Epub 2015 Jun 4.

DOI:10.1016/j.ijcard.2015.05.183
PMID:26080282
Abstract
摘要

相似文献

1
Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation.慢性黏膜皮肤念珠菌病伴功能获得性 STAT1 突变的复发性炎性主动脉瘤
Int J Cardiol. 2015 Oct 1;196:88-90. doi: 10.1016/j.ijcard.2015.05.183. Epub 2015 Jun 4.
2
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.一种新型的功能获得性 STAT1 突变，导致 STAT1 基础磷酸化，并增加慢性黏膜皮肤念珠菌病中远端 IFN-γ 介导的反应。
Mol Immunol. 2015 Dec;68(2 Pt C):597-605. doi: 10.1016/j.molimm.2015.09.014.
3
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.常染色体显性遗传慢性黏膜皮肤念珠菌病中的 STAT1 突变。
N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29.
4
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.由于 STAT1 功能获得性突变引起的慢性黏膜皮肤念珠菌病。
Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8.
5
Gain-of-function STAT1 mutations are associated with intracranial aneurysms.功能获得性 STAT1 突变与颅内动脉瘤相关。
Clin Immunol. 2017 May;178:79-85. doi: 10.1016/j.clim.2017.01.012. Epub 2017 Feb 2.
6
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.慢性黏膜皮肤念珠菌病与一种增强STAT1磷酸化的SH2结构域功能获得性突变相关。
J Allergy Clin Immunol. 2016 Jul;138(1):297-299. doi: 10.1016/j.jaci.2015.12.1320. Epub 2016 Mar 2.
7
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.来自东欧和中欧的慢性黏膜皮肤念珠菌病患者中新发和复发的功能获得性 STAT1 突变。
J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24.
8
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel Gain-of-Function Mutation.复发性、严重阿弗他口炎和黏膜溃疡为新型功能获得性突变的主要表现。
Front Immunol. 2020 May 28;11:967. doi: 10.3389/fimmu.2020.00967. eCollection 2020.
9
Treatment options for chronic mucocutaneous candidiasis.慢性黏膜皮肤念珠菌病的治疗选择。
J Infect. 2016 Jul 5;72 Suppl:S56-60. doi: 10.1016/j.jinf.2016.04.023. Epub 2016 May 6.
10
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.鲁索替尼可逆转失调的辅助性T细胞反应，并控制由一种新型信号转导及转录激活因子1（STAT1）功能获得性突变引起的自身免疫。
J Allergy Clin Immunol. 2017 May;139(5):1629-1640.e2. doi: 10.1016/j.jaci.2016.11.022. Epub 2017 Jan 27.

引用本文的文献

1
Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis.伪装成非孟德尔自身免疫性疾病的干扰素病：早期诊断的模式识别
Front Pediatr. 2023 Aug 9;11:1169638. doi: 10.3389/fped.2023.1169638. eCollection 2023.
2
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.人类 Stat1 功能获得性 T385M 突变导致激活的滤泡辅助性 T 细胞/T 辅助 1 样 CD4 T 细胞扩增，并在无特定病原体小鼠中导致性别偏向性自身免疫。
Front Immunol. 2023 May 19;14:1183273. doi: 10.3389/fimmu.2023.1183273. eCollection 2023.
3
Integrating Bulk Transcriptome and Single-Cell RNA Sequencing Data Reveals the Landscape of the Immune Microenvironment in Thoracic Aortic Aneurysms.
整合批量转录组和单细胞RNA测序数据揭示胸主动脉瘤免疫微环境全景
Front Cardiovasc Med. 2022 Apr 7;9:846421. doi: 10.3389/fcvm.2022.846421. eCollection 2022.
4
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.人类 STAT1 功能获得性杂合突变：慢性黏膜皮肤念珠菌病和 I 型干扰素病。
J Clin Immunol. 2020 Nov;40(8):1065-1081. doi: 10.1007/s10875-020-00847-x. Epub 2020 Aug 27.
5
Identification of key genes and pathways in abdominal aortic aneurysm by integrated bioinformatics analysis.通过综合生物信息学分析鉴定腹主动脉瘤的关键基因和通路。
J Int Med Res. 2020 Apr;48(4):300060519894437. doi: 10.1177/0300060519894437. Epub 2019 Dec 29.
6
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.全外显子组测序在儿童发病的狼疮中常能检测到单基因病因。
Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y.
7
Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.2010 - 2017年新发现的原发性免疫缺陷病中的卡介苗并发症
Front Immunol. 2018 Jun 22;9:1423. doi: 10.3389/fimmu.2018.01423. eCollection 2018.
8
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.对人类信号转导及转录激活因子1进行丙氨酸扫描诱变以评估功能丧失或功能获得性变体。
J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20.
9
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.因遗传性白细胞介素-17受体（IL-17RA）缺乏导致细菌和真菌感染患者的遗传学、免疫学及临床特征
Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7.
10
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.杂合性信号转导和转录激活因子1（STAT1）功能获得性突变是一种临床表型出人意料广泛的疾病的基础。
Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.