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排序方式: 共有2417条查询结果,搜索用时 0 毫秒
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Wan J Yourshaw M Mamsa H Rudnik-Schöneborn S Menezes MP Hong JE Leong DW Senderek J Salman MS Chitayat D Seeman P von Moers A Graul-Neumann L Kornberg AJ Castro-Gago M Sobrido MJ Sanefuji M Shieh PB Salamon N Kim RC Vinters HV Chen Z Zerres K Ryan MM Nelson SF Jen JC 《Nature genetics》2012,44(6):704-708
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration. 相似文献
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Gui Y Guo G Huang Y Hu X Tang A Gao S Wu R Chen C Li X Zhou L He M Li Z Sun X Jia W Chen J Yang S Zhou F Zhao X Wan S Ye R Liang C Liu Z Huang P Liu C Jiang H Wang Y Zheng H Sun L Liu X Jiang Z Feng D Chen J Wu S Zou J Zhang Z Yang R Zhao J Xu C Yin W Guan Z Ye J Zhang H Li J Kristiansen K Nickerson ML Theodorescu D Li Y Zhang X Li S Wang J Yang H Wang J Cai Z 《Nature genetics》2011,43(9):875-878
Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer. 相似文献
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Establishing a reasonable evaluation index system is the basis and premise for the scientific evaluation of geographic national conditions. By analyzing the DPSIR model and its correlation and relation with the evaluation index system, the indexes for geographic national conditions were selected from the aspects of resources, ecology, environment, economy, society, etc to build an evaluation index system for geographic national conditions that consists of three hierarchies: index, criterion, and target levels. Furthermore, the index system was analyzed in terms of index integrity, low overlapping of elements, non-existence of isolated indexes, hierarchy of index system, etc., for the purpose of demonstrating that the DPSIR model-based evaluation index system for geographic national conditions meets the principles of index system establishment. 相似文献
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宛延闿 《系统工程与电子技术》1992,(1)
本文介绍了关系型数据库管理系统(RDBMS)与面向对象数据库管理系统(OODBMS)的技术,详细评述了人们围绕这两种技术展开的争论。 相似文献
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摘要: 针对复杂曲面分片后的喷枪轨迹组合优化问题,利用哈密尔顿图将其转化为广义开环旅行商问题(OTSP),采用“问题无关的进化算法与问题相关的局部搜索相结合”的策略,首先引入隶属云模型来自适应调节蚁群算法中控制的随机性,然后引入K-opt局部搜索策略的基于改进隶属云模型蚁群算法(MCMACA)对喷枪轨迹组合优化的OTSP问题进行求解.仿真结果表明,改进隶属云模型蚁群算法的全局搜索性和局部收敛性更佳,在复杂曲面上对喷涂机器人喷枪轨迹进行优化具有明显的优越性.
关键词: 组中图分类号:文献标志码: A 相似文献
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15℃条件下,通过投加不同浓度碳酸氢钠来控制厌氧体系的碱度,采用间歇实验进行厌氧消化研究。结果显示,碳酸氢钠投加量为0.10mol/L时,体系能维持厌氧微生物适宜生长的pH值,48h内COD去除率达到75.43%。继续增大投加量,COD去除率没有明显升高;随着碳酸氢盐碱度的增加,VFA浓度峰值升高,但积累的VFA降解速度减慢;高浓度的碳酸氢盐碱度可以缩短产甲烷的滞后时间,但最终累积甲烷产量受其影响较小;碳酸氢盐碱度的适量投加可促进低温厌氧消化过程中微生物的生长代谢,提高微生物群落的丰富度以及多样性。 相似文献
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A theoretical model for mid- and low-latitude ionospheric electric fields in realistic geomagnetic fields 总被引:1,自引:1,他引:0
The geomagnetic fields, which play important roles in the ionospheric dynamo, can greatly affect the global distribution of ionospheric electric fields, currents and other ionospheric electrodynamics phenomena. In the study of ionospheric electrodynamics phenomena, such as the longitudinal variations of ionospheric electric fields, the non-dipolar component of the geomagnetic fields must be taken into account. In this paper, we deduce a theoretical electric field model for ionospheric dynamo at mid- and low-latitude which adopt a modified magnetic apex coordinates system. In the new electric field model, the geomagnetic fields can be calculated from either the IGRF model or the dipole field model, and the neutral winds and conductivities are calculated based on empirical models. Then the dynamo equation for the electric potential is finally solved in terms of the line-by-line iteration method, and the ionospheric electric fields and currents are derived from the calculated potential. Our model can reproduce the main features of the ionospheric electrodynamics processes, so it will be a useful tool for the investigation of the upper atmosphere and ionosphere. 相似文献