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作品数：218被引量：531H指数：11
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相关机构：西安工业大学中国医学科学院北京协和医学院中山大学附属第一医院中国航空工业集团公司西安航空计算技术研究所更多>>
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A targeted sequencing approach to find novel pathogenic genes associated with sporadic aortic dissection被引量：5
《Science China(Life Sciences)》2018年第12期1545-1553,共9页Zongzhe Li Chengming Zhou Lun Tan Peng Chen Yanyan Cao Xianqing Li Jiangtao Yan Hesong Zeng Dao-Wu Wang Dao-Wen Wang 
supported by National Natural Science Foundation of China (81700413);National Key Basic Research Program of China (2012CB518004, 2012CB517801)
Aortic dissection(AD) is a heterogeneous genetic disease of the aorta with high mortality and poor prognosis. However, only few genetic causes of AD have been explored till date. After conducting a broad literature re...
关键词：AORTIC DISSECTION next-generation SEQUENCING genetic diagnosis 
A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases被引量：1
《Science China(Life Sciences)》2018年第6期729-732,共4页Hongyang Wang Jing Guan Lan Lan Lan Yu Linyi Xie Xu Liu Ju Yang Cui Zhao Dayong Wang Qiuju Wang 
supported by the National Natural Science Foundation of China(81530032);the National Key Basic Research Program of China(2014CB943001)
Dear Editor,Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes（Lambrechts et al.,2004）.Of the six human genes that encode actins,only ACTG1and ACTB are ubiquitously expr...
关键词：A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases 
Comparative study of mutation spectrums ofMT-RNR1m.1555A〉G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han被引量：3
《Chinese Medical Journal》2014年第18期3233-3237,共5页Li Qian Ji Yubin Han Bing Zong Liang Lan Lan Zhao Yali Wang Hongyang Wang Dayong Wang Qiuju 
This work was supported by grants from the National Key Basic Research Program of China （No. 2014CB943001）, the National Natural Science Foundation of China, Major Project （No. 81120108009）, the Key Medical Technology Research Program of China People＇s Liberation Army （No. BWS11J026）, and the Nursery Fotmdation of China People＇s Liberation Army （No. 14KMZ04）.
Background The mutation frequencies of three common deafness genes （MT-RNR1 m.1555A〉G,GJB2,and SLC26A4） among patients with nonsyndromic sensorineural hearing loss （NSHL） were different in previous studies.Incons...
关键词：hearing loss SENSORINEURAL genetic testing MT-RNR1 m.1555A〉G GJB2 SLC26A4 
Association of common polymorphisms in the LRP6 gene with sporadic coronary artery disease in a Chinese population被引量：6
《Chinese Medical Journal》2012年第3期444-449,共6页Wang Hui Liu Qi-ji Chen Min-zhi Li Li Zhang Kai Cheng Guang-hui Ma Long Gong Yao-qin 
Background Genetic factors contribute to the development of coronary artery disease （CAD）.Recently,a missense mutation in the low density lipoprotein receptor related protein 6 （LRP6） gene,encoding low density lip...
关键词：coronary artery disease low density lipoprotein receptor related protein 6 single nucleotide polymorphism 
Northern Chinese Han populations with sporadic Alzheimer’s disease and the role of urokinase-type plasminogen activator gene promoter polymorphisms
《Neural Regeneration Research》2010年第2期150-155,共6页Di Han Yan Wang Hongyun Li Jianping Jia 
the National Key Technology R&D Program in the Eleventh Five-year Plan Period,No.2006BAI02B01;the National Basic Research 973 Program,No.2006CB500700;the Beijing Natural Science Foundation,No.7071004;Funding Project for Academic Human Resources Development in Institutions of Higher Learning Under the Jurisdiction of Beijing Municipality
BACKGROUND; Polymorphisms of urokinase-type plasminogen activator gene （PLAU） have recently been reported to be associated with sporadic Alzheimer＇ disease （SAD）. However, most studies have focused on the exon re...
关键词：PLAU gene PROMOTER Alzheimer＇s disease POLYMORPHISM 
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