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《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
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
陈盛禄,鲍秀良,苏松坤,刘艳荷
《中国工程科学》 2000年 第2卷 第1期 页码 57-61
运用聚丙烯酰胺凝胶等电聚焦技术(IEF-PAGE),对有代表性的王浆蜂蜜双高产的"浙农大1号"意蜂品种(浙意,Ea)和中国本地意蜂(本意,Eb)、美国意蜂(美意,Em)、澳大利亚意蜂(澳意Eo)、意大利意蜂(原意,Ee)等5个意大利蜂(Apis mellifera Ligustica)品种试飞前的幼龄工蜂进行了苹果酸脱氢酶(MDH)同工酶的基因型、基因型频率、基因频率、杂合度和纯合度的研究。由a、b、c 3个等位基因编码的MDH图谱第二区带应有的a/a、a/b、a/c、b/b、b/c和c/c 6种基因型,在Ea、Eb、Ee 3种意蜂中全部出现;在Eo中出现a/b,a/c,b/c,c/c 4种,在Em中出现a/c,b/c,c/c 3种。联列表独立性检验结果,5个意蜂品种间的基因型频率、基因频率、杂合度、纯合度存在显著差异。
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
《农业科学与工程前沿(英文)》 2021年 第8卷 第2期
Weeping species are used both as ornamental plants and for breeding dwarf plant types. However, exploration of casual genes controlling weeping traits is rather limited. Here, we identified individuals with contrasting phenotypes from an F1 bi-parental mapping population of Prunus mume which was developed from a cross between the upright cultivar ‘Liuban’ and the weeping cultivar ‘Fentai Chuizhi’. Bulked segregant RNA sequencing was used and five QTLs on Chromosome 7 were identified. The Pm024074(PmUGT72B3) allele, belonging to the UDP-glycosyltransferase superfamily containing the coniferyl-alcohol glucosyltransferase domain, was identified in a genomic region overlapping with a previously identified QTL, and had a synonymous transition of T66(upright) to C (weeping) in the coding sequence and a 470-bp deletion in the promoter region. Pm024074 had exceptionally high expression in buds and stems of weeping P. mume. Weighted correlation network analysis indicates that genes neighboring Pm024074 were significantly associated with plant architecture. In addition, a reliable single nucleotide polymorphism marker was developed based on the variation in the Pm024074 gene, providing precise marker-assisted breeding for weeping traits. This study provides insights into the genetic mechanism governing the weeping trait in P. mume, and indicates potential applications for the manipulation of tree architecture.
关键词: BSR-seq / PmUGT72B3 / Prunus mume / UDP-glycosyltransferase / weeping shoots / WGCNA
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
Xiaokang ZHUO, Tangchun ZHENG, Zhiyong ZHANG, Suzhen LI, Yichi ZHANG, Lidan SUN, Weiru YANG, Jia WANG, Tangren CHENG, Qixiang ZHANG
《农业科学与工程前沿(英文)》 页码 196-214 doi: 10.15302/J-FASE-2020379
关键词: BSR-seq PmUGT72B3 Prunus mume UDP-glycosyltransferase weeping shoots WGCNA
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
A frequency error estimation for isogeometric analysis of Kirchhoff–Love cylindrical shells
《结构与土木工程前沿(英文)》 doi: 10.1007/s11709-023-0006-x
关键词: isogeometric analysis Kirchhoff–Love cylindrical shell free vibration frequency error convergence
Xiaowei LUO, Yannick BENICHOU, Suyuan YU
《能源前沿(英文)》 2013年 第7卷 第4期 页码 506-510 doi: 10.1007/s11708-013-0275-5
关键词: aerosol particles collision frequency function coagulation
Fuel variability effect on flickering frequency of diffusion flames
Jizhao LI, Yang ZHANG
《能源前沿(英文)》 2009年 第3卷 第2期 页码 134-140 doi: 10.1007/s11708-009-0034-9
关键词: fuel variability flickering frequency diffusion flames dynamics of combustion
Capacity limitation of nuclear units in grid based on analysis of frequency regulation
Yiping DAI, Pan JIANG, Lin GAO, Weimin KAN, Xiaoqing XIAO, Ge JIN
《能源前沿(英文)》 2012年 第6卷 第2期 页码 148-154 doi: 10.1007/s11708-012-0174-1
关键词: nuclear units capacity overspeed primary frequency control (PFC) second frequency control (SFC)
Oscillation frequency of simplified arterial tubes
Hui AN, Fan HE, Lingxia XING, Xiaoyang LI
《机械工程前沿(英文)》 2009年 第4卷 第3期 页码 300-304 doi: 10.1007/s11465-009-0038-5
关键词: spatial kinematics natural frequency finite element method
标题 作者 时间 类型 操作
Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy
期刊论文
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
期刊论文
BULKED SEGREGANT RNA SEQUENCING (BSR-SEQ) IDENTIFIES A NOVEL ALLELE ASSOCIATED WITH WEEPING TRAITS IN
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
BULKED SEGREGANT RNA SEQUENCING (BSR-SEQ) IDENTIFIES A NOVEL ALLELE ASSOCIATED WITH WEEPING TRAITS IN
Xiaokang ZHUO, Tangchun ZHENG, Zhiyong ZHANG, Suzhen LI, Yichi ZHANG, Lidan SUN, Weiru YANG, Jia WANG, Tangren CHENG, Qixiang ZHANG
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
Calculation of collision frequency function for aerosol particles in free molecule regime in presence
Xiaowei LUO, Yannick BENICHOU, Suyuan YU
期刊论文
Capacity limitation of nuclear units in grid based on analysis of frequency regulation
Yiping DAI, Pan JIANG, Lin GAO, Weimin KAN, Xiaoqing XIAO, Ge JIN
期刊论文