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71.
Yoshida K Sanada M Shiraishi Y Nowak D Nagata Y Yamamoto R Sato Y Sato-Otsubo A Kon A Nagasaki M Chalkidis G Suzuki Y Shiosaka M Kawahata R Yamaguchi T Otsu M Obara N Sakata-Yanagimoto M Ishiyama K Mori H Nolte F Hofmann WK Miyawaki S Sugano S Haferlach C Koeffler HP Shih LY Haferlach T Chiba S Nakauchi H Miyano S Ogawa S 《Nature》2011,478(7367):64-69
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens, which unexpectedly revealed novel pathway mutations involving multiple components of the RNA splicing machinery, including U2AF35, ZRSR2, SRSF2 and SF3B1. In a large series analysis, these splicing pathway mutations were frequent (~45 to ~85%) in, and highly specific to, myeloid neoplasms showing features of myelodysplasia. Conspicuously, most of the mutations, which occurred in a mutually exclusive manner, affected genes involved in the 3'-splice site recognition during pre-mRNA processing, inducing abnormal RNA splicing and compromised haematopoiesis. Our results provide the first evidence indicating that genetic alterations of the major splicing components could be involved in human pathogenesis, also implicating a novel therapeutic possibility for myelodysplasia. 相似文献
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73.
用扫描电镜对几种绣线菊叶片的表皮结构进行了比较观察,结果表明,所观察的几种绣线菊叶片上表皮均呈波纹网状结构,而下表皮存在着较显著的差别,其细胞的形状,大小和排列方式不甚相同,此外气孔的大小,形态及密度亦存在差异。 相似文献
74.
This paper poses questions to which I have only tentative answers. It considers the limitations that practice places on any theoretical statements about how methodologies might be mixed, merged, or compared. It draws attention to less ambitious ways of improving the processes that we individually use and to aspects of process which I judge to be of central importance. 相似文献
75.
Rector Arya Ravindranath Duggirala Laura Almasy David L Rainwater Michael C Mahaney Shelley Cole Thomas D Dyer Ken Williams Robin J Leach James E Hixson Jean W MacCluer Peter O'Connell Michael P Stern John Blangero 《Nature genetics》2002,30(1):102-105
High-density lipoproteins (HDLs) are anti-atherogenic lipoproteins that have a major role in transporting cholesterol from peripheral tissues to the liver, where it is removed. Epidemiologic studies have shown that low levels of high-density lipoprotein-cholesterol (HDL-C) are associated with an increased incidence of coronary heart disease and an increased mortality rate, indicating a protective role of high concentrations of HDL-C against atherogenesis and the development of coronary heart disease. HDL-C level is influenced by several genetic and nongenetic factors. Nongenetic factors include smoking, which has been shown to decrease the HDL-C level. Exercise and alcohol have been shown to increase HDL-C levels. Decreased HDL-C is often associated with other coronary heart disease risk factors such as obesity, hyperinsulinemia and insulin resistance, hypertriglyceridemia and hypertension. Although several genes have been identified for rare forms of dyslipidemia, the genes accounting for major variation in HDL-C levels have yet to be identified. Using a multipoint variance components linkage approach, we found strong evidence of linkage (lod score=3.4; P=0.00004) of a quantitative trait locus (QTL) for HDL-C level to a genetic location between markers D9S925 and D9S741 on chromosome 9p in Mexican Americans. A replication study in an independent set of Mexican American families confirmed the existence of a QTL on chromosome 9p. 相似文献
76.
Tom Flanagan Janet McIntyre-Mills Tony Made Kelly Mackenzie Charles Morse Gayle Underwood Ken Bausch 《Systemic Practice and Action Research》2012,25(2):171-193
Sustainability is not simply about changing practices but more centrally about agreeing to change practices together. To achieve such an end, groups need to improve processes for making complex decisions together. An online course was designed and tested linking students in the United States and in Australia. Students engaged in a re-enactment of deliberations based on Hasan Ozbekhan’s “Predicament of Mankind,” which was constructed originally under assignment from the founders of the Club of Rome in 1970. This re-enactment included contemporary research for examples of a set of 49 continuous critical problems of mankind, asynchronous clarification of these problems using a wiki, pair-wise construction of a systems view of problems assessed to be of highest priority by the class, narrative analysis of the structure, and creative suggestions for resolving the systems problem based on resources available today. This report comments on the strengths and challenges identified in an initial application of an approach for building collaborative and systems thinking skills through an online course in a general education curriculum. Findings are particularly meaningful for contemporary policy makers as well as online educators. 相似文献
77.
交流信号真有效值数字测量方法 总被引:9,自引:0,他引:9
徐垦 《华中科技大学学报(自然科学版)》2006,34(2):51-54
提出了一种新的交流信号真有效值数字测量方法.交流信号被逐个周波地采样,而不必满足采样频率必须等于交流信号频率的整数倍或有理分数倍这一条件.通过程序先找出信号基频、采样点与过零点间的时段长,然后算出各周波的真有效值.分析表明在周波内测量点数为128时测量误差约为1×10-6,且随测量点数的增大而进一步减小.该方法提供了一种新的真有效值测量手段,具有测量过程简化、响应时间减少、可输出每个周波的真有效值等优点. 相似文献
78.
仿人机器人支撑转换期振动分析 总被引:1,自引:0,他引:1
支撑转换期的冲击产生的振动是影响机器人实现稳定、快速的仿人步行的一个重要原因。该文分析了振动对仿人机器人步行性能的影响,运用三维有限元模态分析理论,采用ANSYS软件技术对THBIP- 双足机器人系统结构的振动特性进行了研究,建立了精确的有限元弹性力学模型,计算出结构的固有频率和振型,并结合静力学分析结果和频率测试实验结果,研究刚度、间隙和接触对振动特性的影响。频率测试、比较、分析结果说明,该模型能够正确分析出THBIP- 样机结构的力学特性。 相似文献
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80.
为了提高半闭环微阵列制备机器人的定位精度,根据机器人运动误差具有方向性的特点,提出了分向前馈误差补偿技术。建立了微阵列制备机器人系统误差前馈补偿的传递函数模型,对系统的准确性、快速性与稳定性进行分析,从理论上证明该方法在提高机器人精度方面是可行有效的。研究并实施了回程误差与其他非线性误差的分向补偿算法。在清华大学开发的... 相似文献