PDGFRB mutation causes intracranial aneurysm  

作　　者：Junyu Liu Chunling Wang Enyu Huang Luming Wang Chengchao Wu Weixi Jiang Mei Wu Xiuru Zhang Junxia Yan Yeqi Wang Jingjing Zhang 

机构地区：[1]Department of Neurosurgery,XiangYa Hospital,Central South University,Changsha,Hunan 410008,China [2]Department of Pharmacology,Kyoto University Graduate School of Medicine,Kyoto 606-8501,Japan [3]Key Laboratory for Biorheological Science and Technology of Ministry of Education,College of Bioengineering,Chongqing University,Chongqing 400044,China [4]Affiliated Hospital of Guangdong Medical University&Zhanjiang Key Laboratory of Zebrafish Model for Development and Disease,Guangdong Medical University,Zhanjiang,Guangdong 524001,China [5]Department of Epidemiology and Health Statistics,XiangYa School of Public Health,Central South University,Changsha,Hunan 410006,China [6]Hunan Provincial Key Laboratory of Clinical Epidemiology,XiangYa School of Public Health,Central South University,Changsha,Hunan 410006,China

出　　处：《Journal of Genetics and Genomics》2024年第9期978-981,共4页遗传学报（英文版）

基　　金：supported by the National Natural Science Foundation of China(32222028);Natural Science Foundation of Chongqing,China(CSTB2023NSCQ-MSX0505);Financial Science and Technology Project of Hunan Province,China(422000008);Hunan Province Nature Science Foundation,China(2021JJ30911).

摘　　要：Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial public health problem,especially in developed countries,due to its high mortality,morbidity,and socioeconomic burden(Bakker and Ruigrok,2021).Understanding the risk factors for IA is critical for disease prevention.Although numerous studies(Yan et al.,2015;Santiago-Sim et al.,2016;Barak et al.,2021;Liu et al.,2021)have highlighted familial aggregation of IA and identified candidate genes such as ADAMTS15,THSD1,ANK3,and PPIL4,the mechanisms underlying IA formation and rupture remain unclear.

关 键 词：ANEURYSM RUPTURE 

分 类 号：R739.41[医药卫生—肿瘤]