• 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

出版商更正:散发性原发性免疫缺陷队列的全基因组测序

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

作者信息

Thaventhiran James E D, Lango Allen Hana, Burren Oliver S, Rae William, Greene Daniel, Staples Emily, Zhang Zinan, Farmery James H R, Simeoni Ilenia, Rivers Elizabeth, Maimaris Jesmeen, Penkett Christopher J, Stephens Jonathan, Deevi Sri V V, Sanchis-Juan Alba, Gleadall Nicholas S, Thomas Moira J, Sargur Ravishankar B, Gordins Pavels, Baxendale Helen E, Brown Matthew, Tuijnenburg Paul, Worth Austen, Hanson Steven, Linger Rachel J, Buckland Matthew S, Rayner-Matthews Paula J, Gilmour Kimberly C, Samarghitean Crina, Seneviratne Suranjith L, Sansom David M, Lynch Andy G, Megy Karyn, Ellinghaus Eva, Ellinghaus David, Jorgensen Silje F, Karlsen Tom H, Stirrups Kathleen E, Cutler Antony J, Kumararatne Dinakantha S, Chandra Anita, Edgar J David M, Herwadkar Archana, Cooper Nichola, Grigoriadou Sofia, Huissoon Aarnoud P, Goddard Sarah, Jolles Stephen, Schuetz Catharina, Boschann Felix, Lyons Paul A, Hurles Matthew E, Savic Sinisa, Burns Siobhan O, Kuijpers Taco W, Turro Ernest, Ouwehand Willem H, Thrasher Adrian J, Smith Kenneth G C

机构信息

Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.

Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.

出版信息

Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6.

DOI:10.1038/s41586-020-2556-6
PMID:32678341
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

摘要

本文的一个修订版本已发表,可通过本文顶部的链接获取。

相似文献

1
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.出版商更正:散发性原发性免疫缺陷队列的全基因组测序
Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6.
2
Publisher Correction: Amplification-free single-cell whole-genome sequencing gets a makeover.出版商更正:无扩增单细胞全基因组测序焕然一新。
Nat Methods. 2020 Feb;17(2):242. doi: 10.1038/s41592-020-0739-6.
3
Publisher Correction: Inferring whole-genome histories in large population datasets.出版商更正:推断大型人群数据集中的全基因组历史。
Nat Genet. 2019 Nov;51(11):1660. doi: 10.1038/s41588-019-0523-7.
4
Publisher Correction: Exome sequencing highlights the role of wild-relative introgression in shaping the adaptive landscape of the wheat genome.出版商更正:外显子组测序凸显了野生近缘种渗入在塑造小麦基因组适应性景观中的作用。
Nat Genet. 2019 Jul;51(7):1194. doi: 10.1038/s41588-019-0463-2.
5
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.出版商更正:欧洲和非洲血统个体的深度覆盖全基因组序列与血浆脂蛋白(a)
Nat Commun. 2020 Apr 1;11(1):1715. doi: 10.1038/s41467-020-15236-6.
6
Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.出版商更正:人类DEF6缺陷是一种伴有系统性自身免疫和异常CTLA-4稳态的免疫缺陷综合征的基础。
Nat Commun. 2019 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.
7
Publisher Correction: Integrated exome and RNA sequencing of dedifferentiated liposarcoma.出版商更正:去分化脂肪肉瘤的外显子组与RNA测序整合分析
Nat Commun. 2020 Feb 19;11(1):1024. doi: 10.1038/s41467-020-14680-8.
8
Publisher Correction: Sequencing cell-type-specific transcriptomes with SLAM-ITseq.出版商更正:使用SLAM-ITseq对细胞类型特异性转录组进行测序。
Nat Protoc. 2019 Aug;14(8):2597. doi: 10.1038/s41596-019-0224-9.
9
Publisher Correction: The tuatara genome reveals ancient features of amniote evolution.出版商更正:楔齿蜥基因组揭示了羊膜动物进化的古老特征。
Nature. 2020 Sep;585(7823):E3. doi: 10.1038/s41586-020-2661-6.
10
Publisher Correction: MEMOTE for standardized genome-scale metabolic model testing.出版商更正:用于标准化基因组规模代谢模型测试的MEMOTE
Nat Biotechnol. 2020 Apr;38(4):504. doi: 10.1038/s41587-020-0477-4.

引用本文的文献

1
Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency.病例报告:JAK抑制剂治疗PTPN2缺乏症患者免疫失调症状
Front Immunol. 2025 Jan 31;15:1523256. doi: 10.3389/fimmu.2024.1523256. eCollection 2024.
2
IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.IKAROS 功能获得性疾病:异基因造血细胞移植的经验和扩展的临床表型。
Clin Immunol. 2024 Mar;260:109922. doi: 10.1016/j.clim.2024.109922. Epub 2024 Feb 5.
3
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
人类 IKAROS 的先天性错误:与原发性免疫缺陷相关的 LO F 和 GOF 变体。
Clin Exp Immunol. 2023 Apr 25;212(2):129-136. doi: 10.1093/cei/uxac109.
4
Germline mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.胚系突变及其对免疫的影响:IKAROS 相关疾病及其病理生理学。
Expert Rev Clin Immunol. 2021 Apr;17(4):407-416. doi: 10.1080/1744666X.2021.1901582. Epub 2021 Mar 19.