颅内动脉瘤的遗传学解析：入门指南。
Understanding the genetics of intracranial aneurysms: A primer.
机构信息
Department of Neurosurgery, University of Florida, Gainesville, United States.
Department of Neurosurgery, University of Florida, Gainesville, United States.
出版信息
Clin Neurol Neurosurg. 2022 Jan;212:107060. doi: 10.1016/j.clineuro.2021.107060. Epub 2021 Nov 25.
Abstract
The genetics of intracranial aneurysms is complex. Much work has been done looking at the extracellular matrix surrounding cerebral vasculature as well as the role of matrix metalloproteinases. This comprehensive review summarizes what is known to date about the important genetic components that predispose to aneurysm formation and critically discusses the published findings. We discuss promising pre-clinical models of aneurysm formation and subarachnoid hemorrhage, and highlight avenues for future discovery, while considering limitations in the research to date. This review will further serve as a comprehensive reference guide to understand the genetic underpinnings for aneurysm pathophysiology and act as a primer for further investigation.
摘要
颅内动脉瘤的遗传学十分复杂。人们进行了大量工作，研究了脑血管周围的细胞外基质以及基质金属蛋白酶的作用。这篇综述总结了迄今为止已知的易形成动脉瘤的重要遗传因素，并对已发表的研究结果进行了批判性讨论。我们讨论了有前途的动脉瘤形成和蛛网膜下腔出血的临床前模型，并强调了未来发现的途径，同时考虑到迄今为止研究中的局限性。这篇综述将进一步作为理解动脉瘤病理生理学遗传基础的综合参考指南，并作为进一步研究的入门读物。
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