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111.
Ong CK Subimerb C Pairojkul C Wongkham S Cutcutache I Yu W McPherson JR Allen GE Ng CC Wong BH Myint SS Rajasegaran V Heng HL Gan A Zang ZJ Wu Y Wu J Lee MH Huang D Ong P Chan-on W Cao Y Qian CN Lim KH Ooi A Dykema K Furge K Kukongviriyapan V Sripa B Wongkham C Yongvanit P Futreal PA Bhudhisawasdi V Rozen S Tan P Teh BT 《Nature genetics》2012,44(6):690-693
Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes using Sanger sequencing and selected 15 genes for mutation prevalence screening in an additional 46 individuals with CCA (cases). In addition to the known cancer-related genes TP53 (mutated in 44.4% of cases), KRAS (16.7%) and SMAD4 (16.7%), we identified somatic mutations in 10 newly implicated genes in 14.8-3.7% of cases. These included inactivating mutations in MLL3 (in 14.8% of cases), ROBO2 (9.3%), RNF43 (9.3%) and PEG3 (5.6%), and activating mutations in the GNAS oncogene (9.3%). These genes have functions that can be broadly grouped into three biological classes: (i) deactivation of histone modifiers, (ii) activation of G protein signaling and (iii) loss of genome stability. This study provides insight into the mutational landscape contributing to O. viverrini-related CCA. 相似文献
112.
Hu Z Xia Y Guo X Dai J Li H Hu H Jiang Y Lu F Wu Y Yang X Li H Yao B Lu C Xiong C Li Z Gui Y Liu J Zhou Z Shen H Wang X Sha J 《Nature genetics》2012,44(2):183-186
Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men. 相似文献
113.
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
114.
For a ship in service,seawater corrosion is unavoidable.In order to ensure navigation safety and master the steel plate thickness in service ship,thickness of the ship steel plate must be tested periodically by a scientific method.After consideration of an actual situation of thickness measurement,the bearing mechanism of ultrasonic thickness meter probe has been designed on the basis of wall-climbing robot,and preliminary experiments have been carried out.The device is mainly used for thickness measurement of a large area of ship hull plate when the docking ship has been sandblasted.Efficiency and safety can be improved to finish thickness measurement by using the device. 相似文献
115.
Journal of Systems Science and Complexity - In computer algebra, it remains to be challenging to establish general computational theories for determining the equivalence of indexed polynomials. In... 相似文献
116.
The Ni samples were electroformed from additive-free(AF) and saccharin-containing(SC) sulfamate solutions, respectively. In situ backscattered electron(BSE) imaging, electron backscatter diffraction(EBSD), and electron-probe microanalysis(EPMA) were used to investigate the effect of annealing on the deformation behaviors of the AF and SC samples. The results indicate that columnar grains of the as-deposited AF sample had an approximated average width of 3 μm and an approximated aspect ratio of 8. The average width of columnar grains of the as-deposited SC sample was reduced to approximately 400 nm by the addition of saccharin to the electrolyte. A few very-large grains distributed in the matrix of the SC sample after annealing. No direct evidence indicated that S segregated at the grain boundaries before or after annealing. The average value of the total elongations of the SC samples decreased from 16% to 6% after annealing, whereas that of the AF samples increased from 18% to 50%. The dislocation recovery in grain-boundary areas of the annealed AF sample was reduced, which contributed to the appearance of microvoids at the triple junctions. The incompatibility deformation between very-large grains and fine grains contributed to the brittle fracture behavior of the annealed SC Ni. 相似文献
117.
本文讨论了在干扰环境中利用数字波束形成技术确定目标方向的方法,给出了计算机模拟结果。测量目标角度是基于单脉冲技术中的和差波束的方法。由于各路接收机幅相误差和算法本身的影响,差波束指向零点将产生漂移且零深不够理想,影响了测角精度。本文提出了在差波束的理想指向零点方向用正交化算法产生一零点的办法来校正零点漂移和加深零深,又不影响差方向图的其它性能,从而为用数字波束形成技术精密测角提出了一条路径。另外,本文给出了为消除主瓣干扰而对和差方向图影响的模拟结果。 相似文献
118.
The hydrogen storage of(TiZr_(0.1))_xCr_(1.7-y)Fe_yMn_(0.3)(1.05x1.2,0.2y0.6)alloys,prepared by Ar plasma arc melting,were investigated by X-ray diffraction,pressure-composition-temperature(PCT).The results indicated that all(TiZr_(0.1))_xCr_(1.7-y)Fe_yMn_(0.3)(1.05≤x≤1.2,0.2≤y≤0.6)alloys were determined as C14-type Laves phase,the cell parameters a,c and unit cell volume of(TiZr_(0.1))xCr_(1.1)Fe_(0.6)Mn_(0.3)(1.05≤x≤1.2)alloys increased with increasing the(TiZr)super-stoichiometry from 1.05 to 1.2,and the value of a/c almost unchanged.The hydrogen absorption and desorption plateau pressure decreased from 5.6,4.4–2.6,2.2 MPa with the increase of(TiZr)super-stoichiometry from 1.05 to1.2 at 274 K respectively,and the hydrogen desorption plateau pressure decline was not obvious when the(TiZr)super-stoichiometry exceeded 1.15.The(TiZr_(0.1))_(1.1)Cr_(1.1)Fe_(0.6)Mn_(0.3)alloy had the best comprehensive properties about the maximum and reversible hydrogen storage capacity was 1.79 and 1.45 wt%respectively.The cell parameters a,c and unit cell volume of(TiZr_(0.1))_(1.1)Cr_(1.7-y)Fe_yMn_(0.3)(0.2≤y≤0.6)alloys increased as the ratio of Fe/Cr content decreased.The hydrogenation and dehydrogenation plateau pressure decreased from 4.5,3.4–1.0,0.9 MPa respectively and the maximum hydrogen storage capacity increased from 1.79 to 2.0 wt%as the Fe content reduced from 0.6 to 0.2 at274 K.The maximum and the reversible hydrogen storage capacity were about 2.0 and 1.65 wt%as the ratio of Fe/Cr was 0.13(ie,(TiZr_(0.1))_(1.1)Cr_(1.5)Fe_(0.2)Mn_(0.3)alloy),its relative molar enthalpy of dissociation hydrogen was24.30 kJ/mol H_2. 相似文献
119.
针对GS-05催化剂在反应温度为570~620℃、系统压力为常压、水烃比(重)为20,1.5,1.3条件下进行了乙苯脱氢制苯乙烯的本征动力学研究,提出了该反应的简化反应网络,求得了各个反应的动力学速度式及有关动力学参数.研究结果表明,GS-05催化剂对乙苯脱氢制苯乙烯具有良好的活性和选择性. 相似文献
120.