Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Author:
Funder
Wellcome Trust United Kingdom
Wellcome Trust
Medical Research Council United Kingdom
See below
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/98589/files/pdf
Reference54 articles.
1. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies
2. A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
3. Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
4. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
5. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Cited by 198 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Utility of circulating plasma cell-free DNA for detection and quantification of brain arteriovenous malformations;Nano Today;2024-10
2. Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV);Journal of Investigative Dermatology;2024-09
3. PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments;Annual Review of Genomics and Human Genetics;2024-08-27
4. A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment;Orphanet Journal of Rare Diseases;2024-07-23
5. Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition;Angiogenesis;2024-07-05
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3