• 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

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

作者信息

Chandrasekaran Prabha, Zimmerman Ofer, Paulson Michelle, Sampaio Elizabeth P, Freeman Alexandra F, Sowerwine Kathryn J, Hurt Darell, Alcántara-Montiel Julio C, Hsu Amy P, Holland Steven M

机构信息

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, Md.

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

出版信息

J Allergy Clin Immunol. 2016 Oct;138(4):1222-1224.e2. doi: 10.1016/j.jaci.2016.05.007. Epub 2016 May 24.

DOI:10.1016/j.jaci.2016.05.007
PMID:27345172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5056811/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56a4/5056811/d2ac38266695/nihms798284f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56a4/5056811/d2ac38266695/nihms798284f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56a4/5056811/d2ac38266695/nihms798284f1.jpg

相似文献

1
Distinct mutations at the same positions of STAT3 cause either loss or gain of function.信号转导和转录激活因子3(STAT3)相同位置的不同突变会导致功能丧失或功能获得。
J Allergy Clin Immunol. 2016 Oct;138(4):1222-1224.e2. doi: 10.1016/j.jaci.2016.05.007. Epub 2016 May 24.
2
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome.阐明致病突变对常染色体显性高免疫球蛋白E综合征中STAT3功能的影响。
J Allergy Clin Immunol. 2016 Oct;138(4):1210-1213.e5. doi: 10.1016/j.jaci.2016.04.020. Epub 2016 May 13.
3
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.STAT3 中的 SH2 结构域突变导致高免疫球蛋白 E 综合征患者的 IL-10 功能受损。
Eur J Immunol. 2011 Oct;41(10):3075-84. doi: 10.1002/eji.201141721. Epub 2011 Sep 6.
4
Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome.STAT3 缺陷性高免疫球蛋白 E 综合征患者存在狼疮样自身免疫和干扰素反应增强。
J Allergy Clin Immunol. 2021 Feb;147(2):746-749.e9. doi: 10.1016/j.jaci.2020.07.024. Epub 2020 Aug 5.
5
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.STAT3 突变与高 IgE 综合征相关,导致 IL-6/STAT3 信号通路受阻。
J Biosci. 2012 Jun;37(2):243-57. doi: 10.1007/s12038-012-9202-x.
6
[STAT3 mutation in a child with hyper-IgE syndrome and incomplete clinical features].[一名具有不完全临床特征的高IgE综合征患儿的STAT3突变]
Przegl Lek. 2015;72(12):787-90.
7
Hyper-IgE syndrome update.高免疫球蛋白 E 综合征更新。
Ann N Y Acad Sci. 2012 Feb;1250:25-32. doi: 10.1111/j.1749-6632.2011.06387.x. Epub 2012 Jan 23.
8
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.胚系 STAT3 功能获得性突变导致的早发性淋巴组织增生和自身免疫。
Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.
9
The Ying and Yang of STAT3 in Human Disease.信号转导与转录激活因子3(STAT3)在人类疾病中的阴阳特性
J Clin Immunol. 2015 Oct;35(7):615-23. doi: 10.1007/s10875-015-0187-8. Epub 2015 Aug 18.
10
Somatic mutations activating STAT3 in human inflammatory hepatocellular adenomas.人类炎症性肝细胞腺瘤中激活 STAT3 的体细胞突变。
J Exp Med. 2011 Jul 4;208(7):1359-66. doi: 10.1084/jem.20110283. Epub 2011 Jun 20.

引用本文的文献

1
Gallium Resistance in : Polymorphisms and Morphology Impacting Growth in Metals, Antibiotics and Polyfluorinated Compounds.镓抗性:多态性与形态学对金属、抗生素及多氟化合物生长的影响
Appl Microbiol (Basel). 2025 Mar;5(1). doi: 10.3390/applmicrobiol5010032. Epub 2025 Mar 20.
2
Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.利用系统免疫学优化免疫缺陷病的诊断与治疗
Front Syst Biol. 2022;2. doi: 10.3389/fsysb.2022.910243. Epub 2022 Jul 18.
3
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.从临床角度看 JAKs 和 STATs:功能丧失突变、功能获得性突变及其多维后果。
J Clin Immunol. 2023 Aug;43(6):1326-1359. doi: 10.1007/s10875-023-01483-x. Epub 2023 May 4.
4
STAT3 gain-of-function is not responsible for low total IgE levels in patients with autoimmune chronic spontaneous urticaria.STAT3 获得性功能异常并非自身免疫性慢性自发性荨麻疹患者总 IgE 水平降低的原因。
Front Immunol. 2022 Jul 19;13:902652. doi: 10.3389/fimmu.2022.902652. eCollection 2022.
5
Tailored therapies for primary immunodeficiencies.原发性免疫缺陷病的个体化治疗。
Acta Biomed. 2021 Nov 29;92(S7):e2021520. doi: 10.23750/abm.v92iS7.12406.
6
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.儿童免疫失调、多内分泌腺病、肠病的分子诊断及其对临床管理的影响。
J Allergy Clin Immunol. 2022 Jan;149(1):327-339. doi: 10.1016/j.jaci.2021.04.005. Epub 2021 Apr 20.
7
A Framework to Ethically Approach Incidental Findings in Genetic Research.一种在基因研究中从伦理角度处理偶发发现的框架。
EJIFCC. 2020 Nov 20;31(4):302-309. eCollection 2020 Nov.
8
STAT3 Activation and Oncogenesis in Lymphoma.淋巴瘤中的信号转导和转录激活因子3(STAT3)激活与肿瘤发生
Cancers (Basel). 2019 Dec 19;12(1):19. doi: 10.3390/cancers12010019.
9
Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.信号转导和转录激活因子3(STAT3)及信号转导和转录激活因子5(STAT5)的Src同源2(SH2)结构域突变的结构影响
Cancers (Basel). 2019 Nov 8;11(11):1757. doi: 10.3390/cancers11111757.
10
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.在STAT1功能获得性缺陷中,STAT1量的增加与磷酸化STAT1水平相关。
J Clin Immunol. 2018 Oct;38(7):745-747. doi: 10.1007/s10875-018-0557-0. Epub 2018 Oct 9.

本文引用的文献

1
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.胚系 STAT3 功能获得性突变导致的早发性淋巴组织增生和自身免疫。
Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.
2
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.STAT3 激活突变患者的自身免疫、低丙种球蛋白血症、淋巴组织增生和分枝杆菌病。
Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04-570101. Epub 2014 Oct 27.
3
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.信号转导及转录激活因子3(STAT3)的种系激活突变会导致早发性多器官自身免疫性疾病。
Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20.
4
STAT3 mutations are frequent in CD30+ T-cell lymphomas and T-cell large granular lymphocytic leukemia.信号转导和转录激活因子3(STAT3)突变在CD30+ T细胞淋巴瘤和T细胞大颗粒淋巴细胞白血病中很常见。
Leukemia. 2013 Nov;27(11):2244-7. doi: 10.1038/leu.2013.104. Epub 2013 Apr 8.
5
STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia.STAT3 突变使 NK 细胞慢性淋巴增殖性疾病和 T 细胞大颗粒淋巴细胞白血病的发病机制趋于统一。
Blood. 2012 Oct 11;120(15):3048-57. doi: 10.1182/blood-2012-06-435297. Epub 2012 Aug 2.
6
Somatic STAT3 mutations in large granular lymphocytic leukemia.大颗粒淋巴细胞白血病中的体细胞 STAT3 突变。
N Engl J Med. 2012 May 17;366(20):1905-13. doi: 10.1056/NEJMoa1114885.
7
Crystal structure of unphosphorylated STAT3 core fragment.未磷酸化的STAT3核心片段的晶体结构
Biochem Biophys Res Commun. 2008 Sep 12;374(1):1-5. doi: 10.1016/j.bbrc.2008.04.049. Epub 2008 Apr 21.
8
STAT3 mutations in the hyper-IgE syndrome.高免疫球蛋白E综合征中的信号转导和转录激活因子3(STAT3)突变
N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19.
9
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.信号转导和转录激活因子3(STAT3)DNA结合域中的显性负性突变会导致高免疫球蛋白E综合征。
Nature. 2007 Aug 30;448(7157):1058-62. doi: 10.1038/nature06096. Epub 2007 Aug 5.