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511.
Comino-Méndez I Gracia-Aznárez FJ Schiavi F Landa I Leandro-García LJ Letón R Honrado E Ramos-Medina R Caronia D Pita G Gómez-Graña A de Cubas AA Inglada-Pérez L Maliszewska A Taschin E Bobisse S Pica G Loli P Hernández-Lavado R Díaz JA Gómez-Morales M González-Neira A Roncador G Rodríguez-Antona C Benítez J Mannelli M Opocher G Robledo M Cascón A 《Nature genetics》2011,43(7):663-667
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential. 相似文献
512.
Even though cohabitation has become more prevalent in the last few decades, the majority of the adult population is married, and marriage is associated with a number of factors, such as educational outcom and health. Understanding the marrie population is also an important part of understanding partnering behaviour and family formation and dissolution. The length of marriages and whether they are ended by death or divorce is therefore of interest t demographers and policy maker 相似文献
513.
A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans 总被引:1,自引:0,他引:1
The fundamental aim of genetics is to understand how an organism's phenotype is determined by its genotype, and implicit in this is predicting how changes in DNA sequence alter phenotypes. A single network covering all the genes of an organism might guide such predictions down to the level of individual cells and tissues. To validate this approach, we computationally generated a network covering most C. elegans genes and tested its predictive capacity. Connectivity within this network predicts essentiality, identifying this relationship as an evolutionarily conserved biological principle. Critically, the network makes tissue-specific predictions-we accurately identify genes for most systematically assayed loss-of-function phenotypes, which span diverse cellular and developmental processes. Using the network, we identify 16 genes whose inactivation suppresses defects in the retinoblastoma tumor suppressor pathway, and we successfully predict that the dystrophin complex modulates EGF signaling. We conclude that an analogous network for human genes might be similarly predictive and thus facilitate identification of disease genes and rational therapeutic targets. 相似文献
514.
515.
基于污泥量、静置时间、除菌前后的产气实验,结合扫描电镜、粒度分析、元素分析、微生物群落分析等手段测试产生气组分、分析产气规律,并研究产气机理.实验结果表明:污泥产生气的成分为H2,CO2及少量CH4.污泥产气量与污泥中细菌含量成正比.产气机理为污泥中的细菌在代谢过程中产生H2和CO2的同时,形成的酸性环境腐蚀了污泥颗粒表面氧化层并形成孔洞,污泥中水分沿孔洞进入颗粒内部与合金发生产氢反应,提高了产生气中H2的比例.H2和CO2为污泥中的甲烷杆菌目细菌提供代谢原料,促进CH4产生. 相似文献
516.
讨论了量子场论对希格斯有效势的单圈阶修正与重整化群方程的改进方法,并将这些理论应用于最小超对称模型(minimum supersymmetric model,MSSM).在MSSM框架下讨论了稳定的希格斯有效势对敏感参数tan β的限制,通过重整化群方程的双圈阶数值解,在不同能标下对希格斯势的真空稳定性进行了研究并作出了分析.结果表明,随能标增长希格斯势行为有所变化,但没有出现标准模型那样的不稳定势. 相似文献
517.
针对轻重负载直流电转直流电(direct current direct current,DC DC)的转换效率不高,传统LLC电路控制方式无法满足5G通信电源能耗要求这一问题,采用LLC最佳谐振频率段临界值触发母线电压调压的控制策略,提高通信电源在轻重负载切换的工作效率,优化DC DC变换器。该方法主要利用LLC谐振频率对母线电压进行调制,降低因负载变化而导致LLC电路失去副边二极管的零电流关断(zero current shutdown,ZCS)。Matlab仿真实验结果表明,该方法能把LLC电路的开关频率稳定在最佳工作点附近,并能够保持副边二极管的ZCS,使其在全负载范围内的效率提升了41%。 相似文献
518.
In this article, the problem of event-triggered adaptive fuzzy finite time control of non-strict feedback fractional order nonlinear systems is investigated. By using the property of fuzzy basis function, the obstacle caused by algebraic loop problems is successfully circumvented. Moreover, a new adaptive event-triggered scheme is designed under the unified framework of backstepping control method, which can largely reduce the amount of communications. The stability of the closed-loop system is ensured through fractional Lyapunov stability analysis. Finally, the effectiveness of the proposed scheme is verified by simulation examples.
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