Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by widespread abnormalities in social interactions, deficits in communication as well as restricted interests and repetitive behaviours. The neurological basis and circuitry mechanisms underlying these abnormal behaviours are poorly understood. SHANK3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for the development of 22q13 deletion syndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs. Here we show that mice with Shank3 gene deletions exhibit self-injurious repetitive grooming and deficits in social interaction. Cellular, electrophysiological and biochemical analyses uncovered defects at striatal synapses and cortico-striatal circuits in Shank3 mutant mice. Our findings demonstrate a critical role for SHANK3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic-like behaviours in mice.     

支持地铁车体开发的工程数据库系统

在车体产品数据模块和数据库功能分析的基础上,建立以SQL Server 2000为后台数据库,以Java为W eb Service开发工具的工程数据库系统,完成前台功能化查询、可视化查询和参数化查询的功能设计.数据库内存储所有已建CAD模型和CAE模型的一般信息、分析结果信息及模型指针.该数据库系统管理设计过程、图纸文件、设计结果和分析结果,支持产品的设计变更、审批和发布,实现快速设计信息的检索与查询.实际应用表明,该系统能有效地管理车体开发中的产品数据.     

基于J2ME移动通讯设备软件的研究与开发

本文深入介绍了J2ME体系结构,分析了移动设备应用程序的结构和开发过程,讨论了将J2ME/M IDP应用程序和J2EE服务集成的方法,并预测了移动商务的前景.     

空间4-UPU并联机器人的运动学研究

运用自然坐标法研究了空间4-UPU（万向铰-移动铰-万向铰）并联机器人的运动学正解问题．通过共用并联机器人两两构件间的公共点或公共向量的笛卡尔坐标减少自然坐标的数量,从而简化了整个分析过程．在用自然坐标法处理多体机器人系统时,由于变量仅仅引进了末端执行器上关键点的笛卡尔坐标,因此,约束方程或者是二次的或者是线性的,这就使得并联机器人的运动学分析中不会出现任何超越函数．该建模过程方法简单、统一,非常有利于计算机编程处理．     

满山香子中水杨酸甲酯2-O-β-D-木糖基(1→6)-β-D-葡萄糖苷的分离与鉴定

满山香子75%乙醇提取物的正丁醇萃取物,经大孔树脂柱色谱、Sephadex LH-20柱色谱、硅胶柱色谱和制备薄层色谱等色谱方法分离,得到1个糖苷类化合物,其化学结构经UV、I R、1HNM R、13CNM R、M S和元素分析确定为水杨酸甲酯2-O-β-D-木糖基(1→6)-β-D-葡萄糖苷。该化合物为首次从该植物中分离得出。     

鹊肾树心材化学成分研究

从鹊肾树S treblus asp er心材75%乙醇提取物的乙醚萃取物中分离到5个化合物。经过UV、IR、NM R、M S等现代谱学方法鉴定它们的结构分别为二氢槲皮素(Ⅰ),( )-儿茶素(Ⅱ),槲皮素(Ⅲ),β-谷甾醇(Ⅳ),厚朴酚(Ⅴ)。化合物Ⅰ、Ⅱ、Ⅲ均首次从该种植物中分离得到。     

基于DEA模型的电子商务网站综合评价与质量诊断

在网络经济时代,电子商务网站运行效率直接关系到企业的生存和发展.电子商务网站评价作为比较网站优劣、指导网站建设的重要方法和手段,受到电子商务领域学术界和企业界的共同关注.本文提出基于DEA的电子商务综合评价与质量诊断方法.该方法避免了各种指标权重确定方法的主观性和不确定性,并在评价基础上对弱DEA有效和非DEA有效商务网站进行质量诊断,指明改进和提高效率的方法与途径.实例分析证实了该方法的有效性和科学性.本文的研究丰富了电子商务评价理论,为当前电子商务网站评价提供了切实可行的技术经济分析方法.     

用无铅玻璃料研制环保型导电浆料

研究了Li2O,NaF,Al2O3和ZnO对玻璃体系软化温度和熔化温度的影响,在此基础上研制出了软化温度Tg低于500℃、熔化温度Tm低于560℃的低温无铅玻璃.分析了Li2O和NaF等对玻璃体系助熔的机理,用X射线衍射技术(XRD)分析了玻璃料的结晶状态,实验结果表明,制备的B2O3,Bi2O3和SiO2体系玻璃料为微晶玻璃,玻璃体系结构稳定.利用该玻璃料制备出的导电浆料,电性能优良,能满足低温电极的使用需要.     

Ciliary proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating

Cilia beating is powered by the inner and outer dynein arms (IDAs and ODAs). These multi-subunit macrocomplexes are arranged in two rows on each outer doublet along the entire cilium length, except its distal end. To generate cilia beating, the activity of ODAs and IDAs must be strictly regulated locally by interactions with the dynein arm-associated structures within each ciliary unit and coordinated globally in time and space between doublets and along the axoneme. Here, we provide evidence of a novel ciliary complex composed of two conserved WD-repeat proteins, Fap43p and Fap44p. This complex is adjacent to another WD-repeat protein, Fap57p, and most likely the two-headed inner dynein arm, IDA I1. Loss of either protein results in altered waveform, beat stroke and reduced swimming speed. The ciliary localization of Fap43p and Fap44p is interdependent in the ciliate Tetrahymena thermophila.     

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

Epimutations in the germline, such as methylation of the MLH1 gene, may contribute to hereditary cancer syndrome in human, but their transmission to offspring has never been documented. Here we report a family with inheritance, in three successive generations, of germline allele-specific and mosaic hypermethylation of the MSH2 gene, without evidence of DNA mismatch repair gene mutation. Three siblings carrying the germline methylation developed early-onset colorectal or endometrial cancers, all with microsatellite instability and MSH2 protein loss. Clonal bisulfite sequencing and pyrosequencing showed different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes. This mosaic state of germline methylation with different tissue distribution could act as the first hit and provide a mechanism for genetic disease inheritance that may deviate from the mendelian pattern and be overlooked in conventional leukocyte-based genetic diagnosis strategy.