• 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

Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis.

作者信息

Kriegel Martin A, Hüffmeier Ulrike, Scherb Elisabeth, Scheidig Christina, Geiler Thomas, Kalden Joachim R, Reis André, Lorenz Hanns-Martin

机构信息

University of Erlangen-Nuremberg, Erlangen, Germany.

出版信息

Arthritis Rheum. 2003 Aug;48(8):2386-8. doi: 10.1002/art.11169.

DOI:10.1002/art.11169
PMID:12905494
Abstract
摘要

相似文献

1
Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis.
Arthritis Rheum. 2003 Aug;48(8):2386-8. doi: 10.1002/art.11169.
2
[A Dutch family with the hereditary periodic fever or tumour necrosis factor receptor-associated periodic syndrome (TRAPS)].
Ned Tijdschr Geneeskd. 2007 Apr 7;151(14):836-7; author reply 837.
3
Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.一种与肿瘤坏死因子受体相关周期性发热综合征（TRAPS）、心血管并发症以及对依那西普治疗有良好反应相关的新型TNFRSF1A基因c.605T>A/V173D裂解位点突变的临床和功能特征
Ann Rheum Dis. 2008 Sep;67(9):1292-8. doi: 10.1136/ard.2007.079376. Epub 2008 Jan 7.
4
A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.一名日本肿瘤坏死因子受体相关周期性综合征（TRAPS）合并系统性红斑狼疮患者中，编码肿瘤坏死因子受体超家族1A（TNFRSF1A）的基因出现一种新型突变（T61I）。
Rheumatology (Oxford). 2004 Oct;43(10):1292-9. doi: 10.1093/rheumatology/keh320. Epub 2004 Jul 27.
5
[From gene to disease; tumor necrosis factor receptor and familial periodic fever syndrome].
Ned Tijdschr Geneeskd. 2001 Mar 31;145(13):658.
6
[A Dutch family with the hereditary periodic fever or tumour necrosis factor receptor-associated periodic syndrome (TRAPS)].一个患有遗传性周期性发热或肿瘤坏死因子受体相关周期性综合征（TRAPS）的荷兰家庭。
Ned Tijdschr Geneeskd. 2006 Dec 9;150(49):2711-4.
7
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.一名患有新发TNFRSF1A突变导致肿瘤坏死因子受体相关周期性综合征的以色列阿拉伯患者。
Arthritis Rheum. 2002 Jan;46(1):245-9. doi: 10.1002/1529-0131(200201)46:1<245::AID-ART10038>3.0.CO;2-6.
8
Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.伴有AA型淀粉样变性的常染色体显性遗传性周期性发热：一个土耳其家族中的肿瘤坏死因子受体相关周期性综合征（TRAPS）
J Nephrol. 2005 Sep-Oct;18(5):626-9.
9
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.
J Pediatr. 2003 Feb;142(2):191-3. doi: 10.1067/mpd.2003.15.
10
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.肿瘤坏死因子受体相关周期性综合征表型患者之间的异质性。
Arthritis Rheum. 2003 Sep;48(9):2632-44. doi: 10.1002/art.11215.

引用本文的文献

1
Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.非炎性小体介导的自身炎症性疾病的皮肤表现
JID Innov. 2022 Dec 16;3(2):100176. doi: 10.1016/j.xjidi.2022.100176. eCollection 2023 Mar.
2
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.新型 TNFRSF1A 基因 G87V 突变与 TNF 受体相关周期性综合征的功能分析。
Clin Exp Immunol. 2019 Dec;198(3):416-429. doi: 10.1111/cei.13365. Epub 2019 Sep 4.
3
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.
成人Still 病与遗传性周期性发热综合征之间存在遗传重叠的证据。
Rheumatol Int. 2018 Jan;38(1):111-120. doi: 10.1007/s00296-017-3885-0. Epub 2017 Nov 20.
4
Tumour necrosis factor receptor trafficking dysfunction opens the TRAPS door to pro-inflammatory cytokine secretion.肿瘤坏死因子受体运输功能障碍为促炎细胞因子分泌打开了 TRAPS 之门。
Biosci Rep. 2012 Apr 1;32(2):105-12. doi: 10.1042/BSR20110089.
5
Coexistent tumor necrosis factor receptor-associated periodic fever syndrome and Ehlers-Danlos syndrome.共存的肿瘤坏死因子受体相关周期性发热综合征和埃勒斯-当洛斯综合征。
Rheumatol Int. 2012 Jul;32(7):2223-5. doi: 10.1007/s00296-011-2015-7. Epub 2011 Jul 23.
6
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.罕见肿瘤坏死因子受体相关周期性综合征相关突变 I170N 影响 TNFR1A 切割位点，其在家族内表达具有可变性。
Mod Rheumatol. 2010 Jun;20(3):311-5. doi: 10.1007/s10165-010-0273-y. Epub 2010 Feb 19.
7
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).自身炎症恐怖症：自身炎症性疾病的分子病理生理学（*）
Annu Rev Immunol. 2009;27:621-68. doi: 10.1146/annurev.immunol.25.022106.141627.
8
Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome.陷入陷阱——肿瘤坏死因子受体1相关周期性发热综合征中的受体错误折叠
Arthritis Res Ther. 2007;9(4):217. doi: 10.1186/ar2197.
9
Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour.在肿瘤坏死因子受体相关周期性综合征中出现的肿瘤坏死因子受体I突变形式保留了信号传导功能，但表现出异常行为。
Immunology. 2004 Sep;113(1):65-79. doi: 10.1111/j.1365-2567.2004.01942.x.
10
Tumor necrosis factor (TNF) receptor shedding controls thresholds of innate immune activation that balance opposing TNF functions in infectious and inflammatory diseases.肿瘤坏死因子（TNF）受体脱落控制先天免疫激活阈值，该阈值平衡了TNF在感染性疾病和炎症性疾病中的相反功能。
J Exp Med. 2004 Aug 2;200(3):367-76. doi: 10.1084/jem.20040435.