Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.     

A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis

To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.     

新型手性抗肿瘤药物德氮吡格（TNBG）体外抗肿瘤活性初步研究

目的观察手性旋光异构体德氮吡格（TNBG）对6株人体肿瘤细胞增殖的影响,初步探讨其抗肿瘤作用机制。方法运用MTT法检测手性TNBG对6株肿瘤细胞生长抑制情况;油红O染色法观察QGY-7701细胞中脂质聚集情况;流式细胞仪检测手性TNBG对人肝癌细胞株QGY-7701细胞周期分布和凋亡影响。结果手性TNBG能不同程度抑制肿瘤细胞增殖,且呈剂量依赖性;油红O染色提取显示QGY-7701细胞内脂质量与给药剂量呈正相关;流式细胞仪检测到有s期细胞增加,并且手性TNBG还能诱导QGY-7701细胞发生凋亡。结论手性TNBG在体外具有良好的抗肿瘤活性,其抗肿瘤作用机制可能是通过促使肿瘤细胞产生脂质聚集,抑制肿瘤细胞增殖、诱导其凋亡从而达到抗肿瘤效应。总体看（＋）TNBG体外抗肿瘤活性比（-）TNBG更强。     

隧道围岩施工监测及位移动态模拟分析

为了研究不同支护结构参数和不同开挖方法对围岩位移的影响,以百勺洋隧道为研究对象,通过现场实测、回归分析和数值模拟的技术手段,以大型非线性有限元软件ADINA为研究工具,建立有限元模型。通过改变锚杆支护相关参数和开挖方法,进行大量模拟运算。运算结果表明,随着锚杆长度的增加,地表点下沉量不断减小,隧道的底鼓幅度也逐渐减小,边墙的收敛量也逐渐减小;随着锚杆间距的增加,顶端最大下沉点的竖直方向沉降值增大,边墙收敛值也增大;开挖方法不同时,随着开挖步数的减少,地表下沉值增加,隧道底鼓现象也越明显。开挖步数越多,洞周收敛值越小。     

Transient receptor potential canonical channels in angiogenesis and axon guidance

Wiring of vascular and neural networks requires precise guidance of growing blood vessels and axons, respectively, to reach their targets during development. Both of the processes share common molecular signaling pathways. Transient receptor potential canonical (TRPC) channels are calcium-permeable cation channels and gated via receptor- or store-operated mechanisms. Recent studies have revealed the requirement of TRPC channels in mediating guidance cue-induced calcium influx and their essential roles in regulating axon navigation and angiogenesis. Dissecting TRPC functions in these physiological processes may provide therapeutic implications for suppressing pathological angiogenesis and improving nerve regeneration.     

耗能连梁采用新型复合阻尼器后对剪力墙结构性能的影响

研究一种震后可替换的新型复合阻尼器置于连梁跨中以实现保护连梁并提高连梁耗能能力的目标.在ABAQUS有限元软件平台上根据复合阻尼器的特点提出一种可以有效反映其特征的等效简化模型,并与仿真模型进行对比验证;将等效简化模型应用于高层剪力墙结构的连梁中,进行罕遇地震下的剪力墙结构动力时程分析;以混凝土连梁为参照,研究安装了复...     

高弹性合金Cu-Ni-Sn的研究与发展

阐述了Cu-Ni-Sn合金依靠其良好的力学性能和环保等特点,作为一种有望替代铍青铜的新型铜基弹性合金,被广泛应用于制作各种接插件、弹簧件和开关等弹性元件.文章介绍了该合金国内外研究现状和制备工艺,分析了Ti、Si、Cr、Al、Co、Fe、In和Mn等元素对合金组织和性能的影响,指出了Cu-Ni-Sn合金未来研究的重点应集中在降低合金偏析程度、优化加工工艺和添加适当微量元素提升其性能等方面.     

基于工作流可预测异常处理框架的设计与实现

通过分析工作流管理系统中的异常问题和对异常处理的功能性需求, 针对异常处理的复杂性和能动性, 提出一个灵活的工作流可预测异常处理框架, 并给出一个通过使用异常处理实现更可靠的工作流过程解决方案.