家族性颅内动脉瘤之谜的遗传学启示。

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-10-29 DOI:10.1016/j.wneu.2024.10.090
Alimasi Abulizi, Riqing Su, Pengfei Wu, Xiaojiang Cheng, Maimaitili Aisha, Zengliang Wang
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引用次数: 0

摘要

家族性颅内动脉瘤(FIAs)具有明显的遗传易感性,导致家族内病例聚集,并增加动脉瘤破裂后蛛网膜下腔出血(SAH)的风险。本综述分析了在了解 FIAs 的遗传和分子机制方面的最新进展,重点关注关键的遗传风险因素和环境影响因素。我们探讨了最前沿的全基因组关联研究(GWAS)和下一代测序(NGS)技术,这些技术已确定 ANGPTL6、PPIL4 和 NOTCH3 等易感基因是 FIA 病理生理学的关键因素。通过结合多组学和基因编辑研究的发现,我们强调了改进筛查、预防策略和治疗方法的潜力。这些见解对于推进精准医疗管理 FIAs 至关重要,为合作研究和有针对性的干预措施铺平了道路。
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Genetic Insights into the Enigma of Family Intracranial Aneurysms.

Familial intracranial aneurysms (FIAs) are distinguished by significant genetic predisposition, leading to clustering of cases within families and heightening the risk of subarachnoid hemorrhage (SAH) following aneurysm rupture. This review analyzes recent advancements in understanding the genetic and molecular mechanisms underlying FIAs, focusing on key genetic risk factors and environmental influences. We explore cutting-edge genome-wide association studies (GWAS) and next-generation sequencing (NGS) technologies, which have identified susceptibility genes such as ANGPTL6, PPIL4, and NOTCH3 as crucial contributors to FIA pathophysiology. By incorporating findings from multi-omics and gene-editing research, we highlight the potential for improved screening, preventive strategies, and therapeutic approaches. These insights are essential to advancing precision medicine in managing FIAs, paving the way for collaborative research and targeted interventions.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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