• 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

一个家族中存在单一中心型和特发性多中心型血管滤泡性淋巴结增生症的具有可变外显率的新型突变。

A novel mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.

机构信息

Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY.

Division of Rheumatology, Department of Medicine.

出版信息

Blood Adv. 2018 Nov 13;2(21):2959-2963. doi: 10.1182/bloodadvances.2018023911.

DOI:10.1182/bloodadvances.2018023911
PMID:30404775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6234382/
Abstract

can be mutated in individuals diagnosed with unicentric and idiopathic multicentric Castleman disease. Defective lymphocyte apoptosis may be a pathological mechanism shared between Castleman disease and autoimmune lymphoproliferative syndrome.

摘要

可发生于诊断为局灶型和特发性多中心 Castleman 病的个体中。淋巴细胞凋亡缺陷可能是 Castleman 病和自身免疫性淋巴组织增生综合征之间共有的病理机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdf2/6234382/593df686e72a/advances023911absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdf2/6234382/593df686e72a/advances023911absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdf2/6234382/593df686e72a/advances023911absf1.jpg

相似文献

1
A novel mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.一个家族中存在单一中心型和特发性多中心型血管滤泡性淋巴结增生症的具有可变外显率的新型突变。
Blood Adv. 2018 Nov 13;2(21):2959-2963. doi: 10.1182/bloodadvances.2018023911.
2
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.由于信号转导死亡域之外的 FAS 突变导致的自身免疫性淋巴组织增生综合征:分子机制和临床外显率。
Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7.
3
Signal transduction. FasL binds preassembled Fas.信号转导。FasL与预先组装好的Fas结合。
Science. 2000 Jun 30;288(5475):2328-9. doi: 10.1126/science.288.5475.2328.
4
A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface.剪切力响应基因产物 PP1201 通过降低细胞表面 Fas 的表达来防止 Fas 介导的细胞凋亡。
Apoptosis. 2011 Feb;16(2):162-73. doi: 10.1007/s10495-010-0556-y.
5
When expression is not enough: the evolving thoughts on Fas/FasL and epithelial cell apoptosis.当表达不足时:关于Fas/FasL与上皮细胞凋亡的演变观点
Inflamm Bowel Dis. 2010 Jun;16(6):1061-2. doi: 10.1002/ibd.21197.
6
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.凋亡信号传导和致病性突变导致的显性抑制所需的Fas预结合。
Science. 2000 Jun 30;288(5475):2354-7. doi: 10.1126/science.288.5475.2354.
7
Indolent T-Lymphoblastic Proliferation in Idiopathic Multicentric Castleman Disease.特发性多中心 Castleman 病中的惰性 T 淋巴细胞增殖。
Acta Haematol. 2022;145(2):214-220. doi: 10.1159/000520240. Epub 2021 Nov 24.
8
Castleman disease and TAFRO syndrome.卡斯尔曼病和 TAFRO 综合征。
Ann Hematol. 2022 Mar;101(3):485-490. doi: 10.1007/s00277-022-04762-6. Epub 2022 Jan 19.
9
Fas/FasL of pacific cod mediated apoptosis.太平洋鳕鱼的Fas/FasL介导细胞凋亡。
Dev Comp Immunol. 2021 Jun;119:104022. doi: 10.1016/j.dci.2021.104022. Epub 2021 Jan 19.
10
Diagnosis and Management of Castleman Disease.《卡斯特曼病的诊断与治疗》。
J Natl Compr Canc Netw. 2019 Nov;17(11.5):1417-1419. doi: 10.6004/jnccn.2019.5037.

引用本文的文献

1
TAFRO Syndrome and COVID-19.TAFRO综合征与新型冠状病毒肺炎
Biomedicines. 2024 Jun 11;12(6):1287. doi: 10.3390/biomedicines12061287.
2
Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature.孤立性舌骨浆细胞瘤合并单中心Castleman病:一例报告及文献复习
World J Clin Cases. 2022 Dec 26;10(36):13364-13372. doi: 10.12998/wjcc.v10.i36.13364.
3
Clinical characteristics and outcomes of Castleman disease: a multicenter Consortium study of 428 patients with 15-year follow-up.Castleman病的临床特征与预后:一项对428例患者进行15年随访的多中心联合研究

本文引用的文献

1
Clinical characteristics and outcomes of Castleman disease: A multicenter study of 185 Chinese patients.Castleman病的临床特征与预后:185例中国患者的多中心研究
Cancer Sci. 2018 Jan;109(1):199-206. doi: 10.1111/cas.13439. Epub 2017 Dec 28.
2
International, evidence-based consensus diagnostic criteria for HHV-8-negative/idiopathic multicentric Castleman disease.HHV-8阴性/特发性多中心Castleman病的国际循证共识诊断标准。
Blood. 2017 Mar 23;129(12):1646-1657. doi: 10.1182/blood-2016-10-746933. Epub 2017 Jan 13.
3
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Cancer Res. 2022 Sep 15;12(9):4227-4240. eCollection 2022.
4
Castleman disease.卡斯尔曼病。
Nat Rev Dis Primers. 2021 Nov 25;7(1):84. doi: 10.1038/s41572-021-00317-7.
5
Transcriptome and unique cytokine microenvironment of Castleman disease.Castleman 病的转录组和独特的细胞因子微环境。
Mod Pathol. 2022 Apr;35(4):451-461. doi: 10.1038/s41379-021-00950-3. Epub 2021 Oct 22.
6
Novel somatic alterations in unicentric and idiopathic multicentric Castleman disease.局灶型和特发性多中心 Castleman 病中的新型体细胞改变。
Eur J Haematol. 2021 Dec;107(6):642-649. doi: 10.1111/ejh.13702. Epub 2021 Sep 21.
7
DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells.DNMT3A单倍体不足在成熟人类免疫细胞的增强子处导致二分法DNA甲基化缺陷。
J Exp Med. 2021 Jul 5;218(7). doi: 10.1084/jem.20202733. Epub 2021 May 10.
8
A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease.单中心型和多中心型Castleman病的基因异常综述
Biology (Basel). 2021 Mar 24;10(4):251. doi: 10.3390/biology10040251.
9
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.一种用于罕见孟德尔变异优先级排序的改进型表型驱动工具:在真实患者全外显子数据上对Exomiser进行基准测试。
Genes (Basel). 2020 Apr 23;11(4):460. doi: 10.3390/genes11040460.
10
Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population.儿童症状性和无症状性 Castleman 病的组织学和实验室特征。
Am J Clin Pathol. 2020 May 5;153(6):821-832. doi: 10.1093/ajcp/aqaa011.
一种用于有效识别孟德尔疾病中致病调控变异的全基因组分析框架。
Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25.
4
Multicentric Castleman's disease with impaired lymphocytic apoptosis.伴有淋巴细胞凋亡受损的多中心性Castleman病
Allergol Int. 2015 Jan;64(1):112-4. doi: 10.1016/j.alit.2014.08.009. Epub 2014 Dec 18.
5
Clinical features and outcomes in patients with human immunodeficiency virus-negative, multicentric Castleman's disease: a single medical center experience.人类免疫缺陷病毒阴性的多中心Castleman病患者的临床特征及预后:单中心经验
Blood Res. 2014 Dec;49(4):253-8. doi: 10.5045/br.2014.49.4.253. Epub 2014 Dec 23.
6
HHV-8-negative, idiopathic multicentric Castleman disease: novel insights into biology, pathogenesis, and therapy.HHV-8 阴性、特发性多中心 Castleman 病:生物学、发病机制和治疗的新见解。
Blood. 2014 May 8;123(19):2924-33. doi: 10.1182/blood-2013-12-545087. Epub 2014 Mar 12.
7
The clinical spectrum of Castleman's disease.卡斯特曼病的临床谱。
Am J Hematol. 2012 Nov;87(11):997-1002. doi: 10.1002/ajh.23291. Epub 2012 Jul 13.
8
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.由于信号转导死亡域之外的 FAS 突变导致的自身免疫性淋巴组织增生综合征:分子机制和临床外显率。
Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7.
9
New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.自身免疫性淋巴组织增生综合征的诊治新进展。
Curr Opin Pediatr. 2012 Feb;24(1):1-8. doi: 10.1097/MOP.0b013e32834ea739.
10
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.FAS 部分功能不足是人类自身免疫性淋巴组织增生综合征的一种常见疾病机制。
J Immunol. 2011 May 15;186(10):6035-43. doi: 10.4049/jimmunol.1100021. Epub 2011 Apr 13.