Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an immunoglobulin (Ig)-related transmembrane cell-cell adhesion molecule that is part of the NAP cell adhesion system. Nectin-1 is also the principal cell surface receptor for alpha-herpesviruses (HveC; ref. 7), and the high frequency of CLPED1 on Margarita Island in the Caribbean Sea might result from resistance of heterozygotes to infection by these viruses.     

演化神经网络诊断模型隐层节点自生成算法的探讨及应用

在将演化计算方法引入径向基函数 (RBF)网络训练的基础上 ,建立了一个故障诊断模型 ,给出了一种隐层节点自生成的学习方法 ,并在齿轮的故障诊断应用中得到验证 图 2 ,表 1 ,参 5     

基于PC机的切削加工计算机数据采集系统

研制了基于PC机的切削加工参数测试计算机数据采集系统 ,采用C语言编程 ,具有采样、滤波、数据处理、绘图等功能 ,测试数据的后续处理在Windows平台上进行 ,提高了切削加工参数测试的准确性和数据处理的方便性 图 3,参 6     

TiAlN 保护膜的制备及结构研究

用反应磁控溅射方法制备了ＴｉＡｌＮ薄膜,结构分析表明,当Ｔｉ的含量小于０．２５时,ＴｉＡｌＮ薄膜是Ａｌ基氮化物的闪锌矿结构,但晶格常数随Ｔｉ原子含量的增加而增大．Ｘ射线光电子能谱分析表明,ＴｉＡｌＮ薄膜有与ＡｌＮ和ＴｉＮ不同的电子结构特征．     

夹克泡沫保温管道结构热效应分析

研究了夹克泡沫保温管道在保持钢管、泡沫层和夹克管同步变形时,钢管与泡沫、泡沫与夹克间接触面的剪切力,横截面上各部分轴力、应力以及轴向变形。结果表明,各接触面剪切力略大于管道所处环境与夹克间的摩擦阻力,在实际生产中应保证管道中各种材料间的接触面具有一定的抗剪切强度,工程中应尽量减小环境对管道的约束。且在进行强度和变形计算时,可忽略泡沫和夹克的影响。     

面向JIT的生产作业计划禁忌搜索算法

研究和设计了面向准时制生产作业计划的禁忌搜索详细算法,论述了该算法的基于工序块的邻域设计、禁忌表设计以及在两条变动的关键路线上所做的邻域搜索策略设计．最后以准时制生产为目标,归纳出了考虑长期记忆功能的禁忌搜索算法步骤,并采用ＶｉｓｕａｌＦｏｘｐｒｏ ５．０ 编程实现了该算法．     

针刺第二掌骨侧全息穴位群治疗急性运动损伤的体会

针刺第二个掌骨侧全息穴位群并配合肢体活动或配刺某些经穴,治疗运动中出现的腰部及四肢软组织的急性损伤17例,操作简便而安全,能快速减轻疼痛和消肿,总有效率达100％。     

用VB实现灌区微机网络系统的管理

结合河北省涿鹿县四个灌区微机管理系统的设计与开发,介绍了如何用VB在上位机上实现各个灌区水流量的数据采集、处理、打印等功能.文中给出了软件系统的模块结构图,通信模块的程序清单和运行结果.     

餐厅室内环境气氛的设计探讨

餐厅的室内环境气氛设计,要了解“影响餐厅气氛的要素及组合”。餐厅环境个性的表达要注意环境个性与功能特征的关系。”主题室内设计”应充分利用各种物质要素来诱发人们对主题的联想和移情。另外还应注意餐厅环境气氛的表现     

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D). Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and approximately 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P = 5.0 x 10(-14)), CDC123-CAMK1D (P = 1.2 x 10(-10)), TSPAN8-LGR5 (P = 1.1 x 10(-9)), THADA (P = 1.1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D.