• 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

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

作者信息

Clarke Jessica M, Alikian Mary, Xiao Sihao, Kasperaviciute Dalia, Thomas Ellen, Turbin Isobel, Olupona Kike, Cifra Elna, Curetean Emanuel, Ferguson Teena, Redhead Julian, Shovlin Claire L

机构信息

West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.

Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.

出版信息

J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17.

DOI:10.1136/jmedgenet-2019-106794
PMID:32303606
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7691802/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/ba22449e2183/jmedgenet-2019-106794f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/68632f3357da/jmedgenet-2019-106794f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/ba22449e2183/jmedgenet-2019-106794f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/68632f3357da/jmedgenet-2019-106794f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/ba22449e2183/jmedgenet-2019-106794f02.jpg

相似文献

1
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.通过“十万基因组计划”临床诊断流程，利用双向全基因组测序在遗传性出血性毛细血管扩张症中鉴定出低水平镶嵌现象。
J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17.
2
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症家族中的ENG突变嵌合体
Mol Genet Genomic Med. 2018 Jan;6(1):121-125. doi: 10.1002/mgg3.361. Epub 2017 Dec 14.
3
A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.一例具有ENG移码突变的迟发性遗传性出血性毛细血管扩张症病例。
Neurol India. 2019 Jan-Feb;67(1):312-314. doi: 10.4103/0028-3886.253633.
4
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.影响内皮糖蛋白近端启动子的突变作为1型遗传性出血性毛细血管扩张症的起源。
BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017-0380-0.
5
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.基于参与“十万基因组计划”的“基因阴性”个体的全基因组测序结果对遗传性出血性毛细血管扩张症诊断标准的更新
J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195.
6
Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.一名患有遗传性出血性毛细血管扩张症2型的日本患者的ACVRL1基因中出现新型突变c.263A>G。
J Dermatol. 2019 Jan;46(1):e22-e24. doi: 10.1111/1346-8138.14521. Epub 2018 Jun 20.
7
Association of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) and malignant melanoma in two patients.两名患者遗传性出血性毛细血管扩张症（伦迪-奥斯勒-韦伯综合征）与恶性黑色素瘤的关联
Melanoma Res. 2007 Jun;17(3):201-3. doi: 10.1097/CMR.0b013e3280a608a4.
8
Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.I 型遗传性出血性毛细血管扩张症中临床相关嵌合体的鉴定。
J Med Genet. 2011 May;48(5):353-7. doi: 10.1136/jmg.2010.088112. Epub 2011 Mar 17.
9
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.遗传性出血性毛细血管扩张症血管畸形中的体细胞突变导致 ENG 或 ACVRL1 的双等位基因缺失。
Am J Hum Genet. 2019 Nov 7;105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
10
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.遗传性出血性毛细血管扩张症患者的 mosaic ACVRL1 和 ENG 突变。
J Med Genet. 2011 May;48(5):358-60. doi: 10.1136/jmg.2010.088286. Epub 2011 Mar 4.

引用本文的文献

1
Somatic mosaicism in patients with "mutation-negative" CAPS: insights from a single centre UK cohort.“突变阴性”的儿童急性出疹性多系统炎症综合征（CAPS）患者的体细胞镶嵌现象：来自英国一个单中心队列的见解
Front Pediatr. 2025 Jun 5;13:1598748. doi: 10.3389/fped.2025.1598748. eCollection 2025.
2
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes- and .遗传性出血性毛细血管扩张症基因的ACMG/AMP变异整理指南规范 - 以及
Hum Mutat. 2024 May 18;2024:3043736. doi: 10.1155/2024/3043736. eCollection 2024.
3
Alk1/Endoglin signaling restricts vein cell size increases in response to hemodynamic cues.

本文引用的文献

1
Somatic mutation and clonal expansions in human tissues.体细胞突变和人类组织中的克隆扩展。
Genome Med. 2019 May 28;11(1):35. doi: 10.1186/s13073-019-0648-4.
2
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).欧洲罕见血管疾病参考网络（VASCERN）遗传性出血性毛细血管扩张症（HHT）结局指标。
Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.
3
Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
Alk1/内皮糖蛋白信号传导可限制静脉细胞大小因血流动力学信号而增加。
Angiogenesis. 2024 Dec 10;28(1):5. doi: 10.1007/s10456-024-09955-3.
4
Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition.脑动静脉畸形的病理生理学：聚焦于内皮功能障碍和内皮-间充质转化
Biomedicines. 2024 Aug 7;12(8):1795. doi: 10.3390/biomedicines12081795.
5
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.伴有复杂和超早发性 ATL1 相关痉挛性截瘫的患者为基因型/表型相关性提供了见解，并支持 SPG3A 的常染色体隐性形式。
J Neurol. 2024 Sep;271(9):6343-6348. doi: 10.1007/s00415-024-12565-0. Epub 2024 Jul 13.
6
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.全基因组测序数据的功能筛选过滤器可识别距离编码 DNA ＞5 kb 的 HHT 和应激相关非编码 SMAD4 多聚腺苷酸化位点变异体。
Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9.
7
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.基于参与“十万基因组计划”的“基因阴性”个体的全基因组测序结果对遗传性出血性毛细血管扩张症诊断标准的更新
J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195.
8
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.全基因组序列通过非 HHT 有害 DNA 变异区分遗传性出血性毛细血管扩张症表型。
Blood Adv. 2022 Jul 12;6(13):3956-3969. doi: 10.1182/bloodadvances.2022007136.
遗传性出血性毛细血管扩张症中的组织特异性嵌合现象：对家族基因检测的意义
Am J Med Genet A. 2018 Jul;176(7):1618-1621. doi: 10.1002/ajmg.a.38695. Epub 2018 May 7.
4
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症家族中的ENG突变嵌合体
Mol Genet Genomic Med. 2018 Jan;6(1):121-125. doi: 10.1002/mgg3.361. Epub 2017 Dec 14.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.