Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). Several mutations are recurrent, and all are clustered into four regions of the gene: the actin-binding domain and rod domain repeats 3, 10 and 14/15. Our findings contrast with previous observations that loss of function of FLNA is embryonic lethal in males but manifests in females as a localized neuronal migration disorder, called periventricular nodular heterotopia (PVNH; refs. 3-6). The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.     

用遗传算法直接搜索证券组合投资的有效边界

基于遗传算法，提出了一种全球新的直接搜索证券组合投资有效边界的方法，相比于Markowitz方法，它不需要计算协方差矩阵，而且能够适应更复杂的情况，最后，应用上证30指数股票对该算法进行了实证检验，结果良好。     

Performance analysis of Turbo-Codes in communication channels with impulsive noise

Performance of Turbo-Codes in communication channels with impulsive noise is analyzed. First, mathematical model of impulsive noise is presented because it has non-Gaussian nature and is found in many wireless channels due to impulsive phenomena of radio-frequency interference. Then, with linear Log-MAP decoding algorithm for its low complexity, Turbo-Codes are adopted and analyzed in such communication channels. To confirm the performance of the proposed method, simulations on both static and fully interleaved fiat Rayleigh fading channels with impulsive noise have been carried out. It is shown that Turbo-Codes have a better performance than the conventional methods (e.g. convolutionally coded system).     

逆流和并流操作时旋转床气相压降的对比

对逆流和并流旋转床的气相压降进行了实验研究。结果表明:在并流和逆流操作条件下,旋转床的湿床压降小于干床压降;且随液量增大而略有减小,随气量增大而增大;当转速增大时,并流操作的压降减小,逆流操作的压降增大;拟合结果与实验结果吻合很好。     

起爆方式对整体式MEFP战斗部参数的影响

为研究不同起爆方式对整体式多爆炸成形弹丸MEFP战斗部参数的影响,通过LS-DYNA仿真软件,对3种不同起爆方式下战斗部形成多个弹丸过程进行数值仿真,并结合爆轰波作用理论,对弹丸成形形状和速度进行理论分析。结果表明：当采用点起爆与环形起爆时,弹丸束发散角和毁伤面积较大,但周边弹丸速度较低,形状不规则,气动性较差;当采用平面起爆时,弹丸束发散角和毁伤面积最小但弹丸速度较大,气动性较好;相对于点起爆、环形起爆方式,采用平面起爆方式时炸药有效利用率最高,形成弹丸的气动性和对目标侵彻效果最好。     

基于3S技术的土地利用动态变化研究

3S技术是研究土地利用动态变化的重要技术手段，具有传统方法无法比拟的优越性。本文以秦皇岛市为例，定量分析了区域内土地利用动态变化。针对区域土地利用程度及生态环境可能产生的影响进行了简要的评价，揭示了研究区土地利用变化规律，为秦皇岛市实现生态环境目标提供决策依据。     

Morphology and quantitative analysis of O phase during heat treatment of hot-deformed Ti_2AlNb-based alloy

A 1040°C-hot-deformed Ti_2AlNb-based alloy solution-treated at 950°C and aged at different temperatures was quantitatively investigated. The microstructure, size of the phase, and microhardness of the deformed alloys were measured. The results indicated that the microstructure of the deformed Ti_2AlNb-based alloy specimens comprise coarse O lath, fine O lath, equiaxed O/α_2, and acicular O phase. More O phase was generated in the deformed alloy after heat treatment because the acicular O phase was more likely to nucleate and grow along the deformation-induced crystal defects such as dislocations and subgrain boundaries. After deformation and subsequent heat treatment, the acicular O phase of the resultant alloy became finer compared to that of the undeformed alloy, and the acicular O phase became coarser and longer with the elevated aging temperature, while the width of the O lath exhibited unobvious variations. The hot deformation facilitated the dissolution of the O lath but accelerated the precipitation of the acicular O phase. When the 950°C-solution-treated deformed Ti_2AlNb-based alloy was then aged at 750°C for different periods, the phase content was nearly invariable, O and B2 phases eventually reached equilibrium, and the microstructure became stable and homogeneous.     

煤中前沥青烯与沥青烯性质的研究

煤的溶剂抽出物中前沥青烯与沥青烯的质量之比随煤化程度增加而增加。原位热解红外光谱研究结果表明,它们的热稳定性与其结构参数有关,芳香度高,甲基取代结构多的前沥青烯比沥青烯的热稳定性好。前沥青烯与沥青烯在溶剂分级过程中表现出的溶解性与其结构参数无必然联系,而与其酸碱组分间的氢键强度有关。前沥青烯中酸碱组分间的氢键强度为５．１５～３０．９ｋＪ／ｍｏｌ;沥青烯为＜５．１５ｋＪ／ｍｏｌ。     

钢筋混凝土粘结应力和局部滑移相互关系的 分方程及“悬臂虚梁”法的研究

本文对基本条件进行了分析,导得了粘结应力-局部滑移相互关系的二阶微分方程和六个边界条件,这些方程即为探索粘结状态内在规律的基本方程,但按目前的研究途径求解是很困难的.根据数学关系的相似性,文中提出了虚设的悬臂梁分析模型,则任一点局部滑移、裂缝宽度、钢筋与混凝土的应变差、相邻裂缝间的钢筋总伸长与混凝土总伸长、钢筋平均应变、钢筋应变不均匀系数以及粘结状态钢筋的刚度等重要变量的表达式均可以简便地导得.建议的方法可用于裂缝、变形、粘结性能和有限元法的分析.     

码率恒定小尺寸视频流DCT编码二次插值优化

为了在小尺寸屏幕上保持码流恒定,以使视频流清晰,在帧内预测编码的基础上,提出了一种改进的DCT(Discrete Cosine Transform)编码二次插值优化算法.该算法根据帧内预测编码的DCT变换机制,利用DCT编码的二次插值可以使码流恒定,小尺寸屏幕的块效应减弱,在保持视频流速度稳定的情况下,提高了图像的清晰...