• 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
Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018).对以下文章的评论：马索利等人。451,424名欧洲血统社区志愿者中与CADASIL相关的NOTCH3突变的临床结果。（《转化性卒中研究》2018年10月）
Transl Stroke Res. 2019 Oct;10(5):458-459. doi: 10.1007/s12975-018-0681-4. Epub 2018 Dec 18.
2
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers.451424名欧洲血统社区志愿者中与CADASIL相关的NOTCH3突变的临床结果
Transl Stroke Res. 2019 Aug;10(4):339-341. doi: 10.1007/s12975-018-0671-6. Epub 2018 Oct 18.
3
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.NOTCH3 突变在 CADASIL 诊断中的解读。
Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880.
4
Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.三名中国香港患者的大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的基因诊断：NOTCH3细胞内结构域内的一种新突变
J Clin Neurosci. 2018 Oct;56:95-100. doi: 10.1016/j.jocn.2018.06.050. Epub 2018 Jul 3.
5
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.伴有NOTCH3基因新型C82R突变的大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）
J Alzheimers Dis. 2015;43(2):363-7. doi: 10.3233/JAD-141218.
6
CADASIL with a novel NOTCH3 mutation (Cys478Tyr).伴有新型NOTCH3突变（Cys478Tyr）的大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）
J Stroke Cerebrovasc Dis. 2015 Mar;24(3):e61-2. doi: 10.1016/j.jstrokecerebrovasdis.2014.11.022. Epub 2015 Jan 13.
7
New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）患者Notch3基因的新突变
J Neurol Sci. 2015 Feb 15;349(1-2):196-201. doi: 10.1016/j.jns.2015.01.018. Epub 2015 Jan 17.
8
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.一个大型伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）家系中NOTCH3基因纯合或杂合突变个体的表型比较
J Neurol Sci. 2016 Aug 15;367:239-43. doi: 10.1016/j.jns.2016.05.061. Epub 2016 Jun 1.
9
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.NOTCH3 评分：一种新型人类基因组 NOTCH3 转基因小鼠模型中 CADASIL 的临床前生物标志物，该模型具有早期进行性血管 NOTCH3 积累。
Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1.
10
A new de novo Notch3 mutation causing CADASIL.一种导致大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的新的从头Notch3突变。
Eur J Neurol. 2006 Jun;13(6):628-31. doi: 10.1111/j.1468-1331.2006.01337.x.

引用本文的文献

1
Cognition, mood and behavior in CADASIL.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）中的认知、情绪和行为
Cereb Circ Cogn Behav. 2022 Feb 9;3:100043. doi: 10.1016/j.cccb.2022.100043. eCollection 2022.
2
Cysteine-Altering Variants Are a Risk Factor for Stroke in the Elderly Population.半胱氨酸改变的变异是老年人群中风的危险因素。
Stroke. 2020 Dec;51(12):3562-3569. doi: 10.1161/STROKEAHA.120.030343. Epub 2020 Nov 9.

本文引用的文献

1
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers.451424名欧洲血统社区志愿者中与CADASIL相关的NOTCH3突变的临床结果
Transl Stroke Res. 2019 Aug;10(4):339-341. doi: 10.1007/s12975-018-0671-6. Epub 2018 Oct 18.
2
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.NOTCH3 致病变异位置对 CADASIL 疾病严重程度的影响：与 EGFr 7-34 致病变异相比，NOTCH3 EGFr 1-6 致病变异与更严重的表型和更低的生存率相关。
Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22.
3
Cerebral Microbleeds and the Risk of Incident Ischemic Stroke in CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy).CADASIL 患者脑微出血与缺血性卒中事件风险的相关性研究（伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病）。
Stroke. 2017 Oct;48(10):2699-2703. doi: 10.1161/STROKEAHA.117.017839. Epub 2017 Aug 25.
4
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.使用基于全基因组测序（WGS）的特定人群高覆盖度插补参考面板提高罕见和低频变异的插补准确性。
Eur J Hum Genet. 2017 Jun;25(7):869-876. doi: 10.1038/ejhg.2017.51. Epub 2017 Apr 12.
5
Archetypal mutations frequent in public exome: implications for CADASIL.公共外显子组中常见的原型突变：对伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的意义
Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov.
6
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
7
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.一个大型伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）家系中NOTCH3基因纯合或杂合突变个体的表型比较
J Neurol Sci. 2016 Aug 15;367:239-43. doi: 10.1016/j.jns.2016.05.061. Epub 2016 Jun 1.
8
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.NOTCH3 突变在 CADASIL 诊断中的解读。
Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880.
9
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.老年人群中 NOTCH3 基因的遗传变异与年龄相关性脑小血管病的磁共振成像相关性。
Brain. 2011 Nov;134(Pt 11):3384-97. doi: 10.1093/brain/awr252. Epub 2011 Oct 17.
10
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）：NOTCH3基因的扩展多态性及突变分析
J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935.

Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018).

作者信息

Rutten J W, van den Akker E B, Lesnik Oberstein S A J

机构信息

Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Transl Stroke Res. 2019 Oct;10(5):458-459. doi: 10.1007/s12975-018-0681-4. Epub 2018 Dec 18.

DOI:10.1007/s12975-018-0681-4
PMID:30565089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6733833/
Abstract
摘要