【摘 要】
：
Since the discovery of the C9ORF72 gene in 2011,great advances have been achieved in its genetics and in identifying its role in disease models and pathological
【机 构】
：
Laboratory of Molecular Neuropathology, Jiangsu Key Laboratory of Neuropsychiatric Diseases and Depa
论文部分内容阅读
Since the discovery of the C9ORF72 gene in 2011,great advances have been achieved in its genetics and in identifying its role in disease models and pathological mechanisms;it is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).ALS patients with C9ORF72 expansion show heterogeneous symptoms.Those who are C9ORF72 expansion carriers have shorter survival after disease onset than non-C9ORF72 expansion patients.Pathological and clinical features of C9ORF72 patients have been well mimicked via several models,including induced pluripotent stem cell-derived neurons and transgenic mice that were embedded with bacterial artificial chromosome construct and that overexpressing dipeptide repeat proteins.The mechanisms implicated in C9ORF72 pathology include DNA damage,changes of RNA metabolism,alteration of phase separation,and impairment of nucleocytoplasmic transport,which may underlie C9ORF72 expansion-related ALS/FTD and provide insight into nonC9ORF72 expansion-related ALS,FTD,and other neurodegenerative diseases.
其他文献
作为一种新的分布式光纤传感技术,布里渊散射光时域反射(BOTDR)具有高分辨率、多物理参量同时测量等优点而被广泛研究;小波变换常用于消除噪声和检测信号奇异性;BOTDR有直接
【摘要】 目的 探讨中西医结合治疗颈椎病的临床疗效，为后期诊疗提供经验。方法 随机选取本院2011年7月——2013年6月收治的95例颈椎病门诊患者，其中对照组45例，观察组50例。对照组单纯采用瑞力芬治疗；观察组在对照组基础上实施中医康复理疗，比较两组临床疗效与复发率。结果 观察组总有效率明显高于对照组；随访6个月，观察组复发率明显低于对照组，两组比较差异明显具有统计学意义（P<0.05）。结论
基于微波谐振腔微扰技术,利用有限元分析软件ANSYS、腔体微扰精确解方程和近似解公式,分析了材料尺寸、形状和介电常数大小对材料介电常数测量精度的影响。仿真结果表明：当材
在检修机顶盒的过程中,万用表可用来检测机顶盒有关电路的交流、直流电压,交流、直流电流,在线电阻等参数。可参照原理图有关参数进行检查,常能发现电路中的异常现象。另外,
DIY无论是作为一种经营方式,还是一种营销手段,发展到今天,已经日趋成熟,有了一批固定的消费群体。商家可做的文章,无非是在DIY内容上不断翻新,挑战人们的常规,给手工爱好者
Joubert syndrome is characterized by unique malformation of the cerebellar vermis.More than thirty Joubert syndrome genes have been identified,including ARL13B.
利用平行板法测量微波陶瓷介质谐振器的原理,开发成功微波介质陶瓷介电性能的自动测量系统,其具有自动校准程序、自动搜索判别正确谐振峰和处理存储数据结果以及测试界面友好
本文根据可比、实用与易得性,建立了我国房地产泡沫测度的一整套综合指标评价体系,包括指标的选取、标准的建立、综合泡沫度的合成与测算,并对重庆市的房地产市场是否存在泡
Research suggests that inflammation is important in the pathophysiology of mental disorders.In addition,a growing body of evidence has led to the concept of the
Ischemic stroke is one of the leading causes of death worldwide.In the post-stroke stage,cardiac dysfunction is common and is known as the brain-heart interacti