首页 | 本学科首页   官方微博 | 高级检索  
文章检索
  按 检索   检索词:      
出版年份:   被引次数:   他引次数: 提示:输入*表示无穷大
  收费全文   29篇
  免费   0篇
系统科学   1篇
教育与普及   1篇
研究方法   1篇
综合类   26篇
  2016年   1篇
  2012年   3篇
  2011年   4篇
  2008年   1篇
  2006年   1篇
  2004年   1篇
  2003年   2篇
  2002年   11篇
  2001年   3篇
  1994年   2篇
排序方式: 共有29条查询结果,搜索用时 15 毫秒
1.
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions of the genome (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 31) and previously reported trios (n = 19), for a total of 677 individual exomes from 209 families. Here we show that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD. Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interconnected β-catenin/chromatin remodelling protein network ranked significantly for autism candidate genes. In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1. Mutation screening of six candidate genes in 1,703 ASD probands identified additional de novo, protein-altering mutations in GRIN2B, LAMC3 and SCN1A. Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.  相似文献   
2.
数控机床补偿误差的激光干涉仪识别技术   总被引:1,自引:1,他引:0  
提出了基于数控机床的空间误差模型,用激光干涉仪测量机床工作空间中的对角线位移误差来识别机床空间误差的方法,解决了机床垂直轴roll误差的测量难题。结果表明所提出的方法测量精度高,缩短了测量时间,减少了对光学器件的需求量。  相似文献   
3.
We study a single-server queueing system with state-dependent arrivals and general service-distribution.or simply M(n)/G/1/K.where the server follows an N policy and takes multiple vacationswhen the system is empty.We provide a recursive algorithm using the supplementary variable tech-nique to munerically compute the stationary queue length distribution of the system.The only inputrequirements are the Laplace-Stieltjes transforms of the service time distribution and the vacation timedistribution.and the state-dependent arrival rate.The computational complexity of the algorithm isO(K~3).  相似文献   
4.
Active genes are tri-methylated at K4 of histone H3   总被引:92,自引:0,他引:92  
Lysine methylation of histones in vivo occurs in three states: mono-, di- and tri-methyl. Histone H3 has been found to be di-methylated at lysine 4 (K4) in active euchromatic regions but not in silent heterochromatic sites. Here we show that the Saccharomyces cerevisiae Set1 protein can catalyse di- and tri-methylation of K4 and stimulate the activity of many genes. Using antibodies that discriminate between the di- and tri-methylated state of K4 we show that di-methylation occurs at both inactive and active euchromatic genes, whereas tri-methylation is present exclusively at active genes. It is therefore the presence of a tri-methylated K4 that defines an active state of gene expression. These findings establish the concept of methyl status as a determinant for gene activity and thus extend considerably the complexity of histone modifications.  相似文献   
5.
基于服务器/客户模式的的虚拟数控系统体系结构,讨论了虚拟数控系统的建模技术和基于VRML的实现方法,并指出虚拟数控机床的建模是虚拟数控加工过程仿真的实现关键.利用VRML语言、分布式对象技术和Java技术开发和建立了基于Web环境的虚拟数控系统原型。并对系统的开发平台进行了分析和介绍,同时给出了系统的运行实例.研究表明,所开发的系统是可行的和合理的.  相似文献   
6.
Gorillas are humans' closest living relatives after chimpanzees, and are of comparable importance for the study of human origins and evolution. Here we present the assembly and analysis of a genome sequence for the western lowland gorilla, and compare the whole genomes of all extant great ape genera. We propose a synthesis of genetic and fossil evidence consistent with placing the human-chimpanzee and human-chimpanzee-gorilla speciation events at approximately 6 and 10 million years ago. In 30% of the genome, gorilla is closer to human or chimpanzee than the latter are to each other; this is rarer around coding genes, indicating pervasive selection throughout great ape evolution, and has functional consequences in gene expression. A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing. We also compare the western and eastern gorilla species, estimating an average sequence divergence time 1.75 million years ago, but with evidence for more recent genetic exchange and a population bottleneck in the eastern species. The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution.  相似文献   
7.
基于主曲率匹配的五坐标刀位轨迹优化   总被引:5,自引:0,他引:5  
为了克服传统五轴加工采用固定走刀方向和后跟角的加工方法的不足,提出了一种基于刀具扫描面与曲面主曲率匹配、以行距最大为目标的走刀方向和后跟角的优化算法,实践证明,这种方法能够优化刀位轨迹,提高加工效率。  相似文献   
8.
高速弧齿锥齿轮弹流润滑特性分析   总被引:2,自引:1,他引:1  
以某航空发动机高速弧齿锥齿轮为研究对象,在弧齿锥齿轮加载接触分析基础上,建立起适合弹流润滑分析的动态坐标系。用点弹流润滑理论对高速弧齿锥齿轮在啮合过程中的最大油膜压力和最小油膜厚度变化情况进行描述,寻找出载荷、速度和润滑油粘度等因素对轮齿弹流润滑特性的影响规律。  相似文献   
9.
复杂曲面的无干涉刀位轨迹生成   总被引:12,自引:0,他引:12  
提出了基于X-map思路的干涉处理方法,将干涉处理由空间三角片之间的距离判断简化为一维坐标轴上两点之间的位置比较,并构造了包括干涉检查、干涉消除及欠切区域处理等的完整干涉处理方法,此法可以提高干涉处理的效率及稳定性,简化欠切区域的单独处理,对三坐标加工的干涉处理具有很好的实用价值。  相似文献   
10.
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved residues. We identified potentially causative de novo events in 4 out of 20 probands, particularly among more severely affected individuals, in FOXP1, GRIN2B, SCN1A and LAMC3. In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs.  相似文献   
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号