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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
《医学前沿(英文)》 2023年 第17卷 第2期 页码 330-338 doi: 10.1007/s11684-022-0933-2
关键词: Clouston syndrome whole exome sequencing GJB6 gene novel variant unique phenotype
《医学前沿(英文)》 2023年 第17卷 第3期 页码 493-502 doi: 10.1007/s11684-022-0946-x
关键词: ALK fusion next-generation sequencing fluorescence in situ hybridization immunohistochemistry variant allele frequency intratumoral heterogeneity targeted therapy
Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant
《医学前沿(英文)》 2023年 第17卷 第3期 页码 576-580 doi: 10.1007/s11684-023-0991-0
关键词: variant
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in
《医学前沿(英文)》 2022年 第16卷 第5期 页码 808-814 doi: 10.1007/s11684-021-0878-x
关键词: epidermolysis bullosa LAMA3 COL7A1 KRT5 Chinese families
null
《医学前沿(英文)》 2018年 第12卷 第3期 页码 319-323 doi: 10.1007/s11684-017-0553-4
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
关键词: antithrombin deficiency protein C activity mutation variant venous thromboembolism anticoagulants
Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading
《化学科学与工程前沿(英文)》 2023年 第17卷 第2期 页码 183-193 doi: 10.1007/s11705-022-2192-9
关键词: aromatics separation and upgrading variant splitting ratios total exergy destruction total product unit cost
Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN
《农业科学与工程前沿(英文)》 2015年 第2卷 第3期 页码 216-222 doi: 10.15302/J-FASE-2015072
关键词: pseudorabies virus glycoprotein B protein subunit vaccine
Genome-wide association studies: inherent limitations and future challenges
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《医学前沿(英文)》 2012年 第6卷 第4期 页码 444-450 doi: 10.1007/s11684-012-0225-3
Genome-wide association studies (GWAS) have achieved great success in identifying genetic variants related to complex human diseases such as cancer and have provided valuable insights into their genetic architecture. Recently, GWAS is quite the fashion in China. However, there are issues related to its nature. Enormous work needs to be done in the post-GWAS era. Deep sequencing followed by functional studies will be needed to elucidate the underpinning biological mechanisms and further translate GWAS findings into medical practice. Along with pharmacogenomics, the success of GWAS in identifying genetic risk factors and genetic differences in drug response has been gradually enabling personalized medicine. In this article, we used hepatocellular carcinoma (HCC) as an example to demonstrate some of the inherent limitations and summarized future challenges of GWAS.
关键词: genome-wide association studies (GWAS) genetic variant cancer limitation challenge
张树有, 徐敬华, 苟华伟, 谭建荣
《工程(英文)》 2017年 第3卷 第5期 页码 631-640 doi: 10.1016/J.ENG.2017.04.005
大数据和信息物理系统(CPS)等技术的发展使人们对产品设计的需求增加。产品数字设计包括使用先进的数字技术完成产品设计过程,如几何建模、运动学和动态仿真、多学科耦合、虚拟装配、虚拟现实(VR)、多目标优化(MOO)以及人机交互。定制产品智能设计的关键技术包括:客户需求的描述与分析、客户基础的产品族设计(PFD)、定制产品的配置和模块化设计、定制产品的变型设计,以及产品智能设计的知识推送。定制产品智能设计的发展趋势包括定制产品的大数据驱动智能设计技术和定制的设计工具和应用。通过计算机的高精度数控机床设计,我们验证了该方法的有效性。
罗茜倩,张朝阳
《信息与电子工程前沿(英文)》 2021年 第22卷 第2期 页码 141-286 doi: 10.1631/FITEE.1900320
2008—2017年河南省腹泻患者来源单相鼠伤寒沙门菌ST34的基因组流行病学特征研究 Article
穆玉娇, 李瑞超, 杜鹏程, 张沛, 李岩, 崔生辉, Séamus Fanning, 白莉
《工程(英文)》 2022年 第15卷 第8期 页码 34-44 doi: 10.1016/j.eng.2022.05.006
单相鼠伤寒沙门菌(Salmonella enterica serovar 4,[5],12:i:-, S. 4,[5],12:i:-)作为鼠伤寒沙门菌的变种,已成为全球公共卫生领域备受关注的新兴血清型,其在中国的基因组流行病学特征尚不明确。本研究对2008-2017年分离自腹泻患者的100株序列型34型(ST34)S. 4,[5],12:i:-开展的流行情况、耐药表型和群体基因组学的分析发现:多数菌株对氨苄西林、链霉素、磺胺类和四环素耐药(耐药表型ASSuT);基于贝叶斯系统发育分析,中国分离株起源于欧洲谱系,进化为携带不同耐药基因和质粒的两个分支。进化支1中gyrA基因点突变和质粒介导喹诺酮耐药基因携带率较高,而进化支2中多数菌株fljBA操纵子插入了耐药编码区域[编码ASSuT耐药表型,包括blaTEM-1B(氨苄西林耐药)、strAB(链霉素耐药)、sul2(磺胺类耐药)和tet(B)(四环素耐药)],导致了血清型单相变异。IncHI2质粒是该血清型中导致细菌严重耐药的主要可移动遗传元件,普遍存在于进化支1的分离株中。综上,多重耐药S. 4,[5],12:i:-菌株在中国的流行情况日益严重,且进化为携带不同耐药基因的多个谱系,需采取有效措施控制此人畜共患病原体的传播,并基于“同一健康”策略开展监测及制定干预策略。
标题 作者 时间 类型 操作
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
期刊论文
Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy
期刊论文
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in
期刊论文
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report
null
期刊论文
Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading
期刊论文
Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant
Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN
期刊论文