• 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

相似文献

1
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.脑视网膜血管病变中肿瘤样病变的演变与TREX1突变
Neurology. 2010 Sep 28;75(13):1211-3. doi: 10.1212/WNL.0b013e3181f4d7ac.
2
A Case of TREX1-Associated Retinal Vasculopathy with Cerebral Leukodystrophy.一例伴脑白质营养不良的TREX1相关性视网膜血管病变
Ophthalmol Retina. 2020 Jan;4(1):115-117. doi: 10.1016/j.oret.2019.07.014. Epub 2019 Jul 30.
3
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy.伴有TREX1脑视网膜血管病变患者脑病变的演变
Neurology. 2015 Nov 3;85(18):1633-4. doi: 10.1212/WNL.0000000000002092.
4
New roles for the major human 3'-5' exonuclease TREX1 in human disease.人类主要的3'-5'核酸外切酶TREX1在人类疾病中的新作用。
Cell Cycle. 2008 Jun 15;7(12):1718-25. doi: 10.4161/cc.7.12.6162. Epub 2008 Jun 16.
5
A 31-Year-Old Man With a Ring-Enhancing Brain Lesion.一名患有脑环形强化病变的31岁男性。
J Neuroophthalmol. 2017 Jun;37(2):172-175. doi: 10.1097/WNO.0000000000000469.
6
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.人类3'-5' DNA核酸外切酶TREX1的C末端截短会导致伴有脑白质营养不良的常染色体显性视网膜血管病变。
Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29.
7
Retinal vasculopathy with cerebral leukoencephalopathy due to TREX-1 mutation: An important mimicker of CNS inflammatory disease.因TREX-1突变导致的伴有脑白质病的视网膜血管病变:中枢神经系统炎症性疾病的重要模仿者。
Mult Scler Relat Disord. 2021 Jan;47:102639. doi: 10.1016/j.msard.2020.102639. Epub 2020 Nov 22.
8
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.一个患有视网膜血管病变伴脑白质营养不良和TREX1基因p.V235Gfs*6突变的墨西哥混血家族中的表型变异性。
Rev Invest Clin. 2018;70(2):68-75. doi: 10.24875/RIC.18002492.
9
Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.伴有脑白质营养不良的视网膜血管病:一例经尸检证实的 TREX1 杂合突变患者的临床病理特征。
J Neuropathol Exp Neurol. 2019 Feb 1;78(2):181-186. doi: 10.1093/jnen/nly115.
10
Human disease phenotypes associated with mutations in TREX1.与TREX1基因突变相关的人类疾病表型。
J Clin Immunol. 2015 Apr;35(3):235-43. doi: 10.1007/s10875-015-0147-3. Epub 2015 Mar 4.

引用本文的文献

1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?视网膜血管病变伴脑白质病和全身表现合并系统性红斑狼疮:漏诊还是误诊?
Immun Inflamm Dis. 2024 Aug;12(8):e1367. doi: 10.1002/iid3.1367.
2
The Dawn and Advancement of the Knowledge of the Genetics of Migraine.偏头痛遗传学知识的曙光与进展
J Clin Med. 2024 May 4;13(9):2701. doi: 10.3390/jcm13092701.
3
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.伴有脑白质脑病及全身表现的视网膜血管病变(RVCL-S):基础科学与临床观点的最新进展
Cereb Circ Cogn Behav. 2022 Feb 14;3:100046. doi: 10.1016/j.cccb.2022.100046. eCollection 2022.
4
Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report.与既往研究相比,具有意义未明变异的类肿瘤性脑病变:一例报告
Cureus. 2022 Jul 14;14(7):e26844. doi: 10.7759/cureus.26844. eCollection 2022 Jul.
5
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.免疫调节相关基因罕见变异与儿童自身免疫性中枢神经系统疾病的关联。
J Neurol. 2022 Dec;269(12):6512-6529. doi: 10.1007/s00415-022-11325-2. Epub 2022 Aug 12.
6
Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.伴有脑白质病和全身表现的视网膜血管病的神经影像学表现。
AJNR Am J Neuroradiol. 2021 Sep;42(9):1604-1609. doi: 10.3174/ajnr.A7194. Epub 2021 Jun 24.
7
A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.1例罕见的闭塞性近黄斑中心凹视网膜毛细血管扩张症合并中枢神经系统病变:一种类似脑视网膜血管病变的表型,TREX1基因无突变
Am J Ophthalmol Case Rep. 2020 Oct 27;20:100985. doi: 10.1016/j.ajoc.2020.100985. eCollection 2020 Dec.
8
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.RVCL-S 中的病变演变和神经退行性变:一种单基因微血管病。
Neurology. 2020 Oct 6;95(14):e1918-e1931. doi: 10.1212/WNL.0000000000010659. Epub 2020 Sep 4.
9
TREX1 - Apex predator of cytosolic DNA metabolism.TREX1 - 细胞质 DNA 代谢的顶级掠食者。
DNA Repair (Amst). 2020 Oct;94:102894. doi: 10.1016/j.dnarep.2020.102894. Epub 2020 Jun 12.
10
Intracerebral pseudotumors in a family with cerebroretinal vasculopathy.患有脑视网膜血管病变的家族中的脑内假瘤
Neurol Clin Pract. 2012 Sep;2(3):251-254. doi: 10.1212/CPJ.0b013e31826af165.

本文引用的文献

1
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.Trex1核酸外切酶降解单链DNA以防止慢性检查点激活和自身免疫性疾病。
Cell. 2007 Nov 30;131(5):873-86. doi: 10.1016/j.cell.2007.10.017.
2
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.人类3'-5' DNA核酸外切酶TREX1的C末端截短会导致伴有脑白质营养不良的常染色体显性视网膜血管病变。
Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29.
3
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.编码3'-5' DNA核酸外切酶TREX1的基因突变在AGS1位点导致Aicardi-Goutières综合征。
Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16.
4
The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.核酸外切酶TREX1存在于SET复合物中,并与NM23-H1协同作用,在颗粒酶A介导的细胞死亡过程中降解DNA。
Mol Cell. 2006 Jul 7;23(1):133-42. doi: 10.1016/j.molcel.2006.06.005.
5
Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.编码哺乳动物3'→5'核酸外切酶的TREX1和TREX2 cDNA序列的鉴定与表达。
J Biol Chem. 1999 Jul 9;274(28):19655-60. doi: 10.1074/jbc.274.28.19655.
6
Cerebroretinal vasculopathy. A new hereditary syndrome.脑视网膜血管病变。一种新的遗传性综合征。
Ophthalmology. 1988 May;95(5):649-59. doi: 10.1016/s0161-6420(88)33131-3.

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

作者信息

Mateen F J, Krecke K, Younge B R, Ford A L, Shaikh A, Kothari P H, Atkinson J P

机构信息

Department of Neurology, The Johns Hopkins University, Baltimore, MD, USA.

出版信息

Neurology. 2010 Sep 28;75(13):1211-3. doi: 10.1212/WNL.0b013e3181f4d7ac.

DOI:10.1212/WNL.0b013e3181f4d7ac
PMID:20876473
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3013489/
Abstract
摘要