Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

The genetic analysis of congenital skull malformations provides insight into normal mechanisms of calvarial osteogenesis. Enlarged parietal foramina (PFM) are oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM are usually asymptomatic, but may be associated with headache, scalp defects and structural or vascular malformations of the brain. Inheritance is frequently autosomal dominant, but no causative mutations have been identified in non-syndromic cases. We describe here heterozygous mutations of the homeobox gene MSX2 (located on 5q34-q35) in three unrelated families with PFM. One is a deletion of approximately 206 kb including the entire gene and the others are intragenic mutations of the DNA-binding homeodomain (RK159-160del and R172H) that predict disruption of critical intramolecular and DNA contacts. Mouse Msx2 protein with either of the homeodomain mutations exhibited more than 85% reduction in binding to an optimal Msx2 DNA-binding site. Our findings contrast with the only described MSX2 homeodomain mutation (P148H), associated with craniosynostosis, that binds with enhanced affinity to the same target. This demonstrates that MSX2 dosage is critical for human skull development and suggests that PFM and craniosynostosis result, respectively, from loss and gain of activity in an MSX2-mediated pathway of calvarial osteogenic differentiation.     

NGN(软交换)业务简介及发展预测

结合工作实践中对各大运营商的了解及对用户需求等的管理分析经验,对NGN技术及业务发展的现状进行论述。     

海南岛东部地区砖红壤中微量元素含量的纵向分异研究

对海南岛东部地区发育典型的6个砖红壤剖面的微量元素的组成特征及其纵向变化规律进行研究发现,土壤母质是决定砖红壤微量元素含量的主要原因,区内花岗岩砖红壤中Cu、Sr、Zn、Pb含量明显高于砂页岩砖红壤,而砂页岩砖红壤中的As含量相对较高.砂页岩砖红壤剖面中的微量元素含量的纵向变化规律具有相似性,并显示出B层>C层>A层的特征,而花岗岩砖红壤微量元素在各层中的纵向分异规律不甚明显.区内的人类活动对海南岛东部砖红壤剖面中的部分微量元素的分布具有一定的影响,农药及老鼠药的大量使用,可致使大量的As元素进入土壤表层富集,并造成土壤中As含量超标,成为区内环境的重要隐患.     

福建省山海经济差异及协调发展研究

文章从静态、动态两方面入手，揭示出福建省确实存在明显的沿海与内陆差异，然后从地理环境、经济、交通等多方面分析存在差异的原因．最后为缩小福建省山海经济差异提出几点对策．     

大学生IT产品消费行为实证研究

在生命周期假设与预防性约束理论的基础上,结合消费者行为学中的动机理论,通过问卷调查,采取理论分析与数据分析相结合的方法,利用SPSS统计软件对大学生本科阶段IT产品消费行为进行定量研究.结果表明:收入的流动性约束在大学生购买IT产品决策时起着重要作用,而求实、求廉、求便动机的影响作用次之.     

Biomineralization of phototrophic microbes in silica-enriched hot springs in South China

Microbial mats in two hot springs in South China were sampled for the research of mineralization of microbes and its mechanism by the methods of geology and modern biology. The results show that hot spring microbes have the key capability for enrichment of Si, Al, Fe, Ca and other elements, and the microbes are also crucial for the formation of SiO2, CaCO3, clay and so on. The extracellular polymeric substances (EPS) play important roles in the process of mineralization of hot spring microbes, which mainly takes place in the layer of EPS outside cell wall or sheath of cyanobacteria. The sheath outside cell wall, which keeps the normal metabolism of cyanobacteria during the process of mineralization on its surface, is also considerable for the biomineralization of cyanobacteria. According to structure and mineralization characteristics of two microbial mats, the process of mineralization can be divided into three stages, namely, early surface mineralization, middle degradation mineralization, and late des- quamation of mineral. The above conclusions are significant for comprehension of the process of mineralization, the process of deposition and the preservation of microfossil in modern and ancient extreme environments.     

江西省中小企业融资问题探析

就江西省中小企业融资问题开展深入、系统地研究，对探析江西省中小企业融资难题，推动江西省经济发展，具有十分重要的理论价值和现实意义。江西省中小企业融资难突出表现在政府努力不对称，江西省中小企业信用担保不完善，企业融资渠道单一，中小企业信用缺失，国有银行的收益不对称，国有商业银行有其自身的苦衷。提高江西省中小企业融资能力的对策建议为：改善江西省中小企业融资的宏观环境，拓展江西省中小企业融资渠道，加快江西省中小企业改革步伐，提高企业综合实力，加大江西省国有商业银行支持中小企业融资的力度。     

DCT域下采样中的宏块变换算法的研究

针对视频转码的下采样过程中，因P帧中包含帧内宏块而需要在多宏块合成中对不同宏块编码方式进行转换的问题，提出一种DCT（Discrete Cosine Transform）域下的可行算法。该算法通过在DCT域下完成对参考帧的部分解码，实现帧内宏块和帧间宏块相互转化，从而高效地解决因下采样过程中多个宏块合成而导致的宏块编码方式冲突问题。     

基于ANSYS分析的拱坝体型优化

根据拱坝体形的几何特征,基于ANSYS软件的参数化设计语言(APDL),将零阶近似方法和随机搜索法结合起来对单圆心变厚度双曲拱坝进行了优化设计.计算结果表明,该优化方法求解效率高,优化后的坝体应力分布更均匀,优化效果明显.     

攀枝花尼罗人社会身份的变迁

四川省攀枝花米易境内的尼罗人,虽然与彝族杂居在一起,风俗与生活方式也有相近之处,历史上尼罗人却从不与彝族通婚,语言也不相通,尼罗人本身也坚决否认他们是彝族人。但在中国上个世纪50年代的民族识别时,他们被识别为彝族。这种政府的强制行为,使尼罗人的民族身份发生了变化,也是尼罗人在民族融合过程中,由于人口少,逐渐被单向同化,失去了本民族的文化特征。