散发性脑动静脉畸形的进展:新的遗传见解,创新的动物模型和新兴的治疗方法。

IF 4.5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Yasuhito Ueki, Ryan M Naylor, Sherief A Ghozy, Kasthuri Thirupathi, Lorenzo Rinaldo, David F Kallmes, Ramanathan Kadirvel
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引用次数: 0

摘要

脑动静脉畸形(bAVMs)是颅内出血的重要原因,与严重的发病率和死亡率密切相关。目前的治疗方案包括手术、立体定向放射手术和血管内栓塞,但每种方法都有局限性。因此,迫切需要开发药物干预措施。最近在大多数散发性bAVMs中发现了活化的Kirsten大鼠肉瘤(KRAS)病毒癌基因同源突变,这为更全面地了解bAVMs的发病机制打开了大门,并指出了全新的可能的治疗靶点。在此,我们回顾了巴伐尼姆的遗传学、动物模型和治疗方法的现状。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advances in sporadic brain arteriovenous malformations: Novel genetic insights, innovative animal models and emerging therapeutic approaches.

Brain arteriovenous malformations (bAVMs) are a notable cause of intracranial hemorrhage, strongly associated with severe morbidity and mortality. Contemporary treatment options include surgery, stereotactic radiosurgery, and endovascular embolization, each of which has limitations. Hence, development of pharmacological interventions is urgently needed. The recent discovery of the presence of activating Kirsten rat sarcoma (KRAS) viral oncogene homologue mutations in most sporadic bAVMs has opened the door for a more comprehensive understanding of the pathogenesis of bAVMs and has pointed to entirely novel possible therapeutic targets. Herein, we review the status quo of genetics, animal models, and therapeutic approaches in bAVMs.

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来源期刊
Journal of Cerebral Blood Flow and Metabolism
Journal of Cerebral Blood Flow and Metabolism 医学-内分泌学与代谢
CiteScore
12.00
自引率
4.80%
发文量
300
审稿时长
3 months
期刊介绍: JCBFM is the official journal of the International Society for Cerebral Blood Flow & Metabolism, which is committed to publishing high quality, independently peer-reviewed research and review material. JCBFM stands at the interface between basic and clinical neurovascular research, and features timely and relevant research highlighting experimental, theoretical, and clinical aspects of brain circulation, metabolism and imaging. The journal is relevant to any physician or scientist with an interest in brain function, cerebrovascular disease, cerebral vascular regulation and brain metabolism, including neurologists, neurochemists, physiologists, pharmacologists, anesthesiologists, neuroradiologists, neurosurgeons, neuropathologists and neuroscientists.
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