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夏家辉
《中国工程科学》 2000年 第2卷 第11期 页码 1-11
介绍了中国医学遗传学国家重点实验室在遗传病家系收集、疾病基因定位、疾病基因克隆和疾病基因功能研究方面的研究工作。用细胞遗传学G显带技术于1975年发现了一条与鼻咽癌相关的标记染色体t(1;3)(q44;p11);1981年将睾丸决定基因(TDF)定位于Yp11.32带;1991年以来收集遗传病家系345种共590个;1996年用显微切割、PCR、微克隆技术克隆了EXT2基因;1998年用基因家族-候选疾病基因克隆方法克隆了遗传性神经性耳聋基因GJB3;1999年用连锁分析和全基因组扫描将一种遗传性弥漫性浅表性光敏性汗孔角化症定位于12q23.2带,并在基因功能研究中发现了一个新的细胞内转运蛋白。
关键词: 遗传病家系 基因定位和克隆 基因家族-候选疾病基因克隆 基因组扫描 基因功能研究
et’s disease in a Chinese population
null
《医学前沿(英文)》 2012年 第6卷 第4期 页码 354-359 doi: 10.1007/s11684-012-0234-2
Beh?et’s disease is defined as a multisystemic inflammatory disease. Although the precise pathogenesis and etiology is still a mystery, accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Beh?et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease with multiple immune response genes and has identified multiple Beh?et’s disease-related immunoregulatory pathways in the Chinese Han population. A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1/CCR3, STAT3, OPN, IL17, JAK2, MCP-1, CTLA4, PD-1, PD-L1, PD-L2, TGRBR3, CCR6, PTPN22, FCRL3, IRF5, SUMO4 and UBAC2. Significant associations were found between Beh?et’s disease and STAT4, IL23R, CD40, CCR1/CCR3, STAT3, MCP-1, TGFBR3, FCRL3, SUMO4, UBAC2. These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways. These findings are helpful in elucidating the pathogenesis of Beh?et’s disease and hopefully will allow the development of novel treatment regimes.
Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,
《医学前沿(英文)》 2009年 第3卷 第4期 页码 437-442 doi: 10.1007/s11684-009-0074-x
关键词: natriuretic peptide precursor A coronary heart disease gene polymorphism allelic discrimination polymorphism single nucleotide
Exome sequencing greatly expedites the progressive research of Mendelian diseases
null
《医学前沿(英文)》 2014年 第8卷 第1期 页码 42-57 doi: 10.1007/s11684-014-0303-9
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.
关键词: genetics whole-exome sequencing Mendelian disease disease gene
Potential functions of esophageal cancer-related gene-4 in the cardiovascular system
Rui Zhou, Yuanshu Liu, Wenjun Huang, Xitong Dang
《医学前沿(英文)》 2019年 第13卷 第6期 页码 639-645 doi: 10.1007/s11684-019-0701-0
关键词: tumor suppressor gene esophageal cancer-related gene-4 cardiovascular disease hypoxia
Quan LI MD , Weiming LI MD , Ping ZOU MD , Jian ZHANG BM ,
《医学前沿(英文)》 2009年 第3卷 第3期 页码 309-315 doi: 10.1007/s11684-009-0043-4
关键词: graft vs host disease proteinase-activated receptor murine model hematopoietic stem cell transplantation
Jing Ma, Shiyu Chen, Lili Hao, Wei Sheng, Weicheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang
《医学前沿(英文)》 2021年 第15卷 第1期 页码 91-100 doi: 10.1007/s11684-020-0778-5
关键词: congenital heart disease Gene Expression Omnibus lncRNA SAP30-2:1 cell proliferation RNA immunoprecipitation HAND2
Molecular engineering of dendrimer nanovectors for siRNA delivery and gene silencing
Yu Cao, Xiaoxuan Liu, Ling Peng
《化学科学与工程前沿(英文)》 2017年 第11卷 第4期 页码 663-675 doi: 10.1007/s11705-017-1623-5
关键词: gene therapy RNAi therapeutics dendrimer nanovectors gene silencing
The antibiotic resistome: gene flow in environments, animals and human beings
null
《医学前沿(英文)》 2017年 第11卷 第2期 页码 161-168 doi: 10.1007/s11684-017-0531-x
The antibiotic resistance is natural in bacteria and predates the human use of antibiotics. Numerous antibiotic resistance genes (ARGs) have been discovered to confer resistance to a wide range of antibiotics. The ARGs in natural environments are highly integrated and tightly regulated in specific bacterial metabolic networks. However, the antibiotic selection pressure conferred by the use of antibiotics in both human medicine and agriculture practice leads to a significant increase of antibiotic resistance and a steady accumulation of ARGs in bacteria. In this review, we summarized, with an emphasis on an ecological point of view, the important research progress regarding the collective ARGs (antibiotic resistome) in bacterial communities of natural environments, human and animals, i.e., in the one health settings. We propose that the resistance gene flow in nature is “from the natural environments” and “to the natural environments”; human and animals, as intermediate recipients and disseminators, contribute greatly to such a resistance gene “circulation.”
Reflections on the system of evaluation of gene-edited livestock
Ziyao FAN, Tianwen WU, Kui WU, Yulian MU, Kui LI
《农业科学与工程前沿(英文)》 2020年 第7卷 第2期 页码 211-217 doi: 10.15302/J-FASE-2019303
The rapid development of biotechnology has provided a greater understanding of the biological functions of major candidate genes that have important functions regarding economic traits, and new materials for livestock breeding have been obtained through gene editing (GE) and embryo manipulation with the purpose of improving quality and output and reducing the costs and risk of disease. Public concerns, particularly over safety risks and production performance, must be addressed. Evaluation is the most important component of the regulation of gene-edited livestock and is a crucial guarantee of public safety before the marketing of gene-edited animal products. Here, the system of evaluation of gene-edited livestock is discussed in terms of public safety and production performance. The search for safe and ethical applications in the GE of livestock, a case-by-case evaluation strategy, and classification and simplification are used in order to promote a more efficient, objective, comprehensive and operable evaluation system.
《医学前沿(英文)》 2022年 第16卷 第4期 页码 627-636 doi: 10.1007/s11684-020-0815-4
关键词: RUNX1 gene mutation acute myeloid leukemia transcriptional repression DNA methylation
Construction of lentiviral vector carrying Rab9 gene and its expression in mouse brain
Youguo HAO, Min ZHANG, Jinzhi XU, Bitao BU, Jiajun WEI
《医学前沿(英文)》 2009年 第3卷 第2期 页码 141-147 doi: 10.1007/s11684-009-0041-6
Nan Zheng, Ziyuan Song, Yang Liu, Lichen Yin, Jianjun Cheng
《化学科学与工程前沿(英文)》 2017年 第11卷 第4期 页码 521-528 doi: 10.1007/s11705-017-1612-8
关键词: α-helical polypeptide plant gene delivery protoplast intact leaves transfection
Profiling influences of gene overexpression on heterologous resveratrol production in
Duo Liu,Bingzhi Li,Hong Liu,Xuejiao Guo,Yingjin Yuan
《化学科学与工程前沿(英文)》 2017年 第11卷 第1期 页码 117-125 doi: 10.1007/s11705-016-1601-3
关键词: resveratrol aromatic amino acid DNA assembly metabolic engineering gene overexpression
Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity
Chuanfeng Wu, Cynthia E. Dunbar
《医学前沿(英文)》 2011年 第5卷 第4期 页码 356-371 doi: 10.1007/s11684-011-0159-1
关键词: gene therapy hematopoietic stem cells insertional mutagenesis genotoxicity induced pluripotent stem cell
标题 作者 时间 类型 操作
The role of natriuretic peptide precursor A gene polymorphism in the development of coronary heart disease
Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,
期刊论文
Potential functions of esophageal cancer-related gene-4 in the cardiovascular system
Rui Zhou, Yuanshu Liu, Wenjun Huang, Xitong Dang
期刊论文
Gene and protein expression of proteinase-activated receptor-1, 2 in a murine model of acute graft hostdisease
Quan LI MD , Weiming LI MD , Ping ZOU MD , Jian ZHANG BM ,
期刊论文
Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation
Jing Ma, Shiyu Chen, Lili Hao, Wei Sheng, Weicheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang
期刊论文
Molecular engineering of dendrimer nanovectors for siRNA delivery and gene silencing
Yu Cao, Xiaoxuan Liu, Ling Peng
期刊论文
Reflections on the system of evaluation of gene-edited livestock
Ziyao FAN, Tianwen WU, Kui WU, Yulian MU, Kui LI
期刊论文
Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation
期刊论文
Construction of lentiviral vector carrying Rab9 gene and its expression in mouse brain
Youguo HAO, Min ZHANG, Jinzhi XU, Bitao BU, Jiajun WEI
期刊论文
Profiling influences of gene overexpression on heterologous resveratrol production in
Duo Liu,Bingzhi Li,Hong Liu,Xuejiao Guo,Yingjin Yuan
期刊论文