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发作性运动诱发性肌张力障碍的遗传学和功能影像学研究进展 被引量:2
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作者 徐珂 赵旭 +2 位作者 兰立立 黄珊珊 朱遂强 《中华神经医学杂志》 CAS CSCD 北大核心 2021年第2期206-211,共6页
发作性运动诱发性运动障碍(PKD)是一种罕见的发作性运动障碍,人群发病率约为1/150000。PKD与遗传高度相关,除PRRT2基因外,SCN8A、KCNA1、CHRNA4、DEPDC5、PNKD、SLC2A1、KCNMA1、ADCY5等基因突变也可以导致PKD表型。功能影像学研究发现... 发作性运动诱发性运动障碍(PKD)是一种罕见的发作性运动障碍,人群发病率约为1/150000。PKD与遗传高度相关,除PRRT2基因外,SCN8A、KCNA1、CHRNA4、DEPDC5、PNKD、SLC2A1、KCNMA1、ADCY5等基因突变也可以导致PKD表型。功能影像学研究发现PKD患者存在皮质、基底节、丘脑的细微结构或功能异常。本文现围绕PKD的遗传学和功能影像学研究新进展进行综述,以期有助于进一步了解PKD的潜在病理生理学机制。 展开更多
关键词 运动障碍 遗传学 功能影像学 PRRT2
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Genotoxicity and Reduced Heat Shock Protein 70 in Human Airway Smooth Muscle Cells Exposed to Cigarette Smoke Extract 被引量:1
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作者 武小杰 罗国雄 +5 位作者 曾雪 兰立立 宁琴 徐永健 赵建平 谢俊刚 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2013年第6期827-833,共7页
Cigarette smoke is associated with the development of several diseases, such as chronic ob- structive pulmonary disease (COPD). The purpose of this study was to investigate genotoxicity and heat shock protein 70 (H... Cigarette smoke is associated with the development of several diseases, such as chronic ob- structive pulmonary disease (COPD). The purpose of this study was to investigate genotoxicity and heat shock protein 70 (Hsp70) in human airway smooth muscle cells (HASMCs) exposed to cigarette smoke extract (CSE). HASMCs was exposed to CSE with different doses for 24 h. The level of 8-hydroxydeoxyguanosine (8-OHdG) was determined by using HPLC-ECD, the DNA damage was ana- lyzed by using comet assay, and apoptosis was examined by using Annexin-FITC/PI staining. The pro- duction of Hsp70 after CSE stimulation was tested. Results indicated that CSE significantly increased the level of 8-OHdG, DNA damage and cell apoptosis, and reduced the production of Hsp70. In par- ticular, levels of Hsp70 were inversely correlated with 8-OHdG, DNA damage and cell apoptosis. It was concluded that cigarette smoke induced genotoxicity and decreased the production of cell protective protein Hsp70, which may contribute to the development of some airway diseases. 展开更多
关键词 airway smooth muscle cigarette smoke extract 8-hydroxydeoxyguanosine DNA damage heat shock protein 70
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