Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.

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作者： Xuebing,Ding ^[1] ; Yongkang,Chen ^[2] ; Cancan,Guo ^[1] ; Yu,Fu ^[2] ; Chi,Qin ^[1] ; Qingyong,Zhu ^[2] ; Jiuqi,Wang ^[1] ; Rui,Zhang ^[2] ; Haiyan,Tian ^[1] ; Renyi,Feng ^[2] ; Han,Liu ^[1] ; Dongxiao,Liang ^[2] ; Guanghui,Wang ^[1] ; Junfang,Teng ^[2] ; Jinchen,Li ^[1] ; Beisha,Tang ^[2] ; Xuejing,Wang ^[1]

作者单位： Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. ^[1] Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, China. ^[2] Laboratory of Molecular Neuropathology, Jiangsu Key Laboratory of Neuropsychiatric Diseases &, Department of Pharmacology, College of Pharmaceutical Sciences, Soochow University, Suzhou, China. ^[3] Bioinformatics Center, National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China. lijinchen@csu.edu.cn. ^[4] The First Affiliated Hospital, Multi-Omics Research Center for Brain Disorders, Hengyang Medical School, University of South China, Hengyang, China. bstang7398@163.com. ^[5] Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. fccwangxj2@zzu.edu.cn. ^[6] Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, China. fccwangxj2@zzu.edu.cn. ^[7]

关键词 ARHGEF15 Cerebral small vessel disease (CSVD)Osteoporotic fracture RhoA/ROCK2 Wnt/β-catenin

主题词动物(Animals);小鼠(Mice);内皮细胞(Endothelial Cells);突变(Mutation);骨质疏松(Osteoporosis);骨质疏松性骨折(Osteoporotic Fractures)

DOI 10.1007/s00401-023-02560-6

PMID 36929019

发布时间 2023-09-21

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