Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.     

基于Pspice的超级电容器宏模型建立及仿真分析

超级电容器宏模型的建立为其应用设计开发提供了便捷有效的计算机辅助研究手段,对节约项目研发成本和缩短研发周期有着重要意义.笔者采用Pspice电子电路仿真软件,以超级电容器的元件标称参数及其电学等效模型为基本构架,提出一种效果显著且在技术上易于实现的超级电容器建模方法.实验结果表明,该模型具有良好的拟合度,恒流充电阶段时域仿真与实测结果偏差小于10％,能够充分模拟出超级电容器的等效性能和储能特性,可用于各种类型超级电容器的仿真研究,为超级电容器的实际应用提供可靠的数据支持.     

Chaperonin-mediated stabilization and ATP-triggered release of semiconductor nanoparticles

Various properties of semiconductor nanoparticles, including photoluminescence and catalytic activity, make these materials attractive for a range of applications. As nanoparticles readily coagulate and so lose their size-dependent properties, shape-persistent three-dimensional stabilizers that enfold nanoparticles have been exploited. However, such wrapping approaches also make the nanoparticles insensitive to external stimuli, and so may limit their application. The chaperonin proteins GroEL (from Escherichia coli) and T.th ('T.th cpn', from Thermus thermophilus HB8) encapsulate denatured proteins inside a cylindrical cavity; after refolding, the encapsulated proteins are released by the action of ATP inducing a conformational change of the cavity. Here we report that GroEL and T.th cpn can also enfold CdS semiconductor nanoparticles, giving them high thermal and chemical stability in aqueous media. Analogous to the biological function of the chaperonins, the nanoparticles can be readily released from the protein cavities by the action of ATP. We expect that integration of such biological mechanisms into materials science will open a door to conceptually new bioresponsive devices.     

Live-cell delamination counterbalances epithelial growth to limit tissue overcrowding

The development and maintenance of an epithelium requires finely balanced rates of growth and cell death. However, the mechanical and biochemical mechanisms that ensure proper feedback control of tissue growth, which when deregulated contribute to tumorigenesis, are poorly understood. Here we use the fly notum as a model system to identify a novel process of crowding-induced cell delamination that balances growth to ensure the development of well-ordered cell packing. In crowded regions of the tissue, a proportion of cells undergo a serial loss of cell-cell junctions and a progressive loss of apical area, before being squeezed out by their neighbours. This path of delamination is recapitulated by a simple computational model of epithelial mechanics, in which stochastic cell loss relieves overcrowding as the system tends towards equilibrium. We show that this process of delamination is mechanistically distinct from apoptosis-mediated cell extrusion and precedes the first signs of cell death. Overall, this analysis reveals a simple mechanism that buffers epithelia against variations in growth. Because live-cell delamination constitutes a mechanistic link between epithelial hyperplasia and cell invasion, this is likely to have important implications for our understanding of the early stages of cancer development.     

涟钢RH-MFB试生产钢水质量分析

为充分发挥RH-MFB的精炼功能,了解涟源钢铁公司RH-MFB的精炼效果,对涟钢RH-MFB上的钢水质量进行分析,包括钢中w[C],w[N],wT[O]及显微夹杂分析.结果表明,RH-MFB试生产钢水在中间包内平均增碳量为0.002 2%,出RH后钢液有轻微吸氮现象;RH-MFB精炼后,钢液中大于10 μm的显微夹杂数量明显减少,wT[O]平均值较前期生产也有明显下降;基体为Al2O3的夹杂物是RH精炼过程及中间包钢液中存在的主要夹杂物,其形貌特征各异,在工艺后期多以球状和细小块状存在,此外,还发现有少量铝酸盐或硅铝酸盐加硫化物夹杂.为此,提出了有针对性的改进措施.     

The bonobo genome compared with the chimpanzee and human genomes

Two African apes are the closest living relatives of humans: the chimpanzee (Pan troglodytes) and the bonobo (Pan paniscus). Although they are similar in many respects, bonobos and chimpanzees differ strikingly in key social and sexual behaviours, and for some of these traits they show more similarity with humans than with each other. Here we report the sequencing and assembly of the bonobo genome to study its evolutionary relationship with the chimpanzee and human genomes. We find that more than three per cent of the human genome is more closely related to either the bonobo or the chimpanzee genome than these are to each other. These regions allow various aspects of the ancestry of the two ape species to be reconstructed. In addition, many of the regions that overlap genes may eventually help us understand the genetic basis of phenotypes that humans share with one of the two apes to the exclusion of the other.