Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.     

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation and quality control pathways in the endoplasmic reticulum. Here we show that glucosidase IIβ and Sec63p are required in mice for adequate expression of a functional complex of the polycystic kidney disease gene products, polycystin-1 and polycystin-2. We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63. Reduced expression of polycystin-1 also serves to sensitize the kidney to cyst formation resulting from mutations in Pkhd1, the recessive polycystic kidney disease gene. Finally, we show that proteasome inhibition increases steady-state levels of polycystin-1 in cells lacking glucosidase IIβ and that treatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver disease.     

回复与再结晶退火对新型HSn701黄铜组织及性能的影响

设计了一种新型HSn70-1黄铜合金,其冷拉拔加工率为55%.应用偏光显微镜、X射线衍射仪、扫描电子显微镜、显微硬度计、万能材料试验机和电化学工作站等设备,研究了不同的退火温度对新型合金显微组织和性能的影响.结果表明：加入少量Sn,Al,P,Ni合金元素构成了新型HSn70-1合金,合金元素以固溶体的形式存在于晶粒内部,其组织为α单相;合金在不同温度下保温2 h,200℃时发生应变时效,300~450℃为再结晶过程,450~550℃为晶粒长大阶段,550~600℃晶粒基本完全长大.随着退火温度的升高,合金的硬度、抗拉强度和屈服强度逐渐降低并趋于缓慢,其伸长率变化相反;合金自腐蚀电流密度、失重率逐渐降低并趋于稳定;开路电位逐渐变大,最后趋于稳定,新型HSn70-1黄铜的耐腐蚀性逐渐变好.     

基于宽带WR10十字转门连接器的直接式收发器设计

设计了一种基于十字转门连接器的波导直接式收发器,并测试应用于WR10波段.运用有限元素分析法（一种仿真软件）使这种设计达到了优化,并用毫米波矢量网络分析仪检测了这种波导直接式收发转换器的性能,发现在WR10波段下可以获得正常工作状态下-22 dB的平均回波损耗和-45 dB水平的绝缘性能.     

火灾对混凝土结构性能影响的研究

通过对比大量文献资料,分析了火灾高温对混凝土强度的影响,抗拉强度随温度的变化规律,以及不同的冷却方式对高温后混凝土强度的影响;分析了影响钢筋与混凝土高温粘结性能的因素及粘结性能随温度变化的趋势;总结了不同温度对不同类型钢筋抗拉强度的影响,并对今后的研究提出了一些建议.     

基于DEM的民航地空VHF通信有效覆盖仿真研究

针对起伏地形环境下求解民航地空甚高频(very high frequency, VHF)通信有效覆盖范围冗余较大、精度较低的问题,采用改进的最大斜率法进行了仿真研究。首先,考虑遮蔽角计算存在计算冗余,提出"高程清洗"方法,降低计算量。其次,考虑求解最大斜率遮蔽角存在误差,采用改进的反距离加权插值法对原始数字高程模型数据进行插值提升分辨率,提高了切点逼近点位置精度。然后,为确定遮蔽区域具体点位,提出"切点截止法"进行求解。最后,为得到准确覆盖率,采用"网格法"分析计算。实验表明,改进的最大斜率法可有效减少计算冗余,提高信号覆盖求解精度,覆盖率相对改进前分别降低9.58%、4.10%和1.26‰。改进的VHF有效覆盖范围仿真程序可为VHF地面通信站选址、飞机航线规划提供支撑。     

用siRNA抑制胃癌细胞AGS中COX-2表达及对AKT磷酸化的抑制

构建了可在真核细胞中表达针对COX-2基因的siRNA表达载体,并用胃腺癌细胞系AGS建立了COX-2 siRNA的稳定转染细胞系。用Western-Blot检测稳定转染细胞系中COX-2的表达以及AKT的磷酸化水平。结果表明稳定转染C0X-2 siRNA的细胞中COX-2的表达较转染空载体的细胞明显降低,且发现COX-2表达的降低可抑制AKT—Ser^473和Thr-^308的磷酸化水平。为进-步探索抑制COX-2对胃癌细胞生物学特性的影响,及其在肿瘤治疗中的作用奠定了基础。     

基于UG的导向器类零件内环精铸模具设计

在对航空发动机导向器类零件结构分析及零件实体构建的基础上,以UG软件为平台,针对导向器类零件精铸模具的特点和参数化技术的特色,利用二次开发技术,将参数化技术应用于导向器类零件内环精铸模具的设计过程中,能够提高系列产品的设计效率和缩短生产周期.     

高校图书馆与大学生诚信教育

阐述了诚信的含义,分析了高校大学生诚信缺失的现象及其原因,提出对高校大学生实行诚信教育的必要性,论述了高校图书馆在大学生诚信教育中的作用。