家族性帕金森病的致病基因克隆与功能机制研究
81430023
2014
H0912.神经退行性变及相关疾病
唐北沙
重点项目
教授
中南大学
320万元
遗传性;发病机制;神经变性疾病;帕金森病;基因克隆
2015-01-01到2019-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients | 期刊论文 | Liu Lei;Li Xiaobo;Hu Zhengmao;Mao Xiao;Zi Xiaohong;Xia Kun;Tang Beisha;Zhang Ruxu |
| 2 | Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. | 期刊论文 | Sun Qi-Ying;Xu Qian;Tian Yun;Hu Zheng-Mao;Qin Li-Xia;Yang Jin-Xia;Huang Wen;Xue Jin;Li Jin-Chen;Zeng Sheng;Wang Ying;Min Hao-Xuan;Chen Xiao-Yu;Wang Jun-Pu;Xie Bin;Liang Fan;Zhang Hai-Nan;Wang Chun-Yu;Lei Li-Fang;Yan Xin-Xiang;Xu Hong-Wei;Duan Ran-Hui;Xia Kun;Liu Jing-Yu;Jiang Hong;Shen Lu;Guo Ji-Feng;Tang Bei-Sha |
| 3 | Clinical Features and Correlates of Excessive Daytime Sleepiness in Parkinson's Disease | 期刊论文 | Xiang Ya qin;Xu Qian;Sun Qi ying;Wang Zhi qin;Tian Yun;Fang Liang juan;Yang Yang;Tan Jie qiong;Yan Xin xiang;Tang Bei sha;Guo Ji feng |
| 4 | Ethnicity-specific and overlapping alterations of brain hydroxymethylome in Alzheimer's disease. | 期刊论文 | Qin Lixia;Xu Qian;Li Ziyi;Chen Li;Li Yujing;Yang Nannan;Liu Zhenhua;Guo Jifeng;Shen Lu;Allen Emily G;Chen Chao;Ma Chao;Wu Hao;Zhu Xiongwei;Jin Peng;Tang Beisha |
| 5 | Identification of CHCHD10 variants in Chinese patients with Parkinson's disease | 期刊论文 | Zhou Xiaoxia;Liu Zhenhua;Guo Jifeng;Sun Qiying;Xu Qian;Yan Xinxiang;Tang Beisha;Lei Lifang |
| 6 | Updated frequency analysis of spinocerebellar ataxia in China | 期刊论文 | Chen Zhao;Wang Puzhi;Wang Chunrong;Peng Yun;Hou Xiaocan;Zhou Xin;Li Tianjiao;Peng Huirong;Qiu Rong;Xia Kun;Sequeiros Jorge;Tang Beisha;Jiang Hong |
| 7 | Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy | 期刊论文 | Zeng Sheng;Zhang Mei yun;Wang Xue jing;Hu Zheng mao;Li Jin chen;Li Nan;Wang Jun ling;Liang Fan;Yang Qi;Liu Qian;Fang Li;Hao Jun wei;Shi Fu dong;Ding Xue bing;Teng Jun fang;Yin Xiao meng;Jiang Hong;Liao Wei ping;Liu Jing yu;Wang Kai;Xia Kun;Tang Bei sha |
| 8 | The Progress of Induced Pluripotent Stem Cells as Models of Parkinson's Disease | 期刊论文 | Kang Ji feng;Tang Bei sha;Guo Ji feng |
| 9 | Genome-wide analysis of DNA methylation during antagonism of DMOG to MnCl2-induced cytotoxicity in the mouse substantia nigra | 期刊论文 | Yang Nannan;Wei Yang;Wang Tan;Guo Jifeng;Sun Qiying;Hu Yacen;Yan Xinxiang;Zhu Xiongwei;Tang Beisha;Xu Qian |
| 10 | 2016年中华医学科技奖二等奖 | 奖励 | 唐北沙 |
| 11 | Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population | 期刊论文 | Peng Yun;Ye Wei;Chen Zhao;Peng Huirong;Wang Puzhi;Hou Xuan;Wang Chunrong;Zhou Xin;Hou Xiaocan;Li Tangjiao;Qiu Rong;Hu Zhengmao;Tang Beisha;Jiang Hong |
| 12 | Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease | 期刊论文 | Liu Zhenhua;Tang Beisha;Guo Jifeng;Zhou Xiaoxia;Sun Qiying;Xu Qian;Xu Changshui;Yan Xinxiang |
| 13 | Relationship between Alzheimer's disease GWAS-linked top hits and risk of Parkinson's disease with or without cognitive decline: a Chinese population-based study | 期刊论文 | Wang Ya qin;Tang Bei sha;Yang Yang;Cui Yi ting;Kang Ji feng;Liu Zhen hua;Li Kai;Sun Qi ying;Xu Qian;Yan Xin xiang;Guo Ji feng |
| 14 | Assessment of RIT2 rs12456492 association with Parkinson's disease in Mainland China | 期刊论文 | Liu Zhen hua;Guo Ji feng;Wang Ya qin;Li Kai;Sun Qi ying;Xu Qian;Yan Xin xiang;Xu Chang shui;Tang Bei sha |
| 15 | Analysis of several loci from genome-wide association studies in Parkinson's disease in mainland China | 期刊论文 | Liu Zhen hua;Guo Ji feng;Li Kai;Wang Ya qin;Kang Ji feng;Wei Yang;Sun Qi ying;Xu Qian;Wang Dan ling;Xia Kun;Yan Xin xiang;Xu Chang shui;Tang Bei sha |
| 16 | Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism | 期刊论文 | Yang Yang;Tang Bei sha;Weng Ling;Li Nan;Shen Lu;Wang Jian;Zuo Chuan tao;Yan Xin xiang;Xia Kun;Guo Ji feng |
| 17 | Hsp70 participates in PINK1-mediated mitophagy by regulating the stability of PINK1 | 期刊论文 | Zheng Qian;Huang Chuxin;Guo Jifeng;Tan Jieqiong;Wang Chunyu;Tang Beisha;Zhang Hainan |
| 18 | Microglial autophagy defect causes parkinson disease-like symptoms by accelerating inflammasome activation in mice | 期刊论文 | Cheng Jinbo;Liao Yajin;Dong Yuan;Hu Han;Yang Nannan;Kong Xiangxi;Li Shuoshuo;Li Xiaoheng;Guo Jifeng;Qin Lixia;Yu Jiezhong;Ma Cungen;Li Jianke;Li Mingtao;Tang Beisha;Yuan Zengqiang |
| 19 | Genetic Analysis of LRRK2 R1628P in Parkinson's Disease in Asian Populations | 期刊论文 | Zhang Yuan;Sun Qiying;Yi Minhan;Zhou Xun;Guo Jifeng;Xu Qian;Tang Beisha;Yan Xinxiang |
| 20 | Identification of TMEM230 mutations in familial Parkinson's disease | 期刊论文 | Deng Han Xiang;Shi Yong;Yang Yi;Ahmeti Kreshnik B;Miller Nimrod;Huang Cao;Cheng Lijun;Zhai Hong;Deng Sheng;Nuytemans Karen;Corbett Nicola J;Kim Myung Jong;Deng Hao;Tang Beisha;Yang Ziquang;Xu Yanming;Chan Piu;Huang Bo;Gao Xiao Ping;Song Zhi;Liu Zhenhua;Fecto Faisal;Siddique Nailah;Foroud Tatiana;Jankovic Joseph;Ghetti Bernardino;Nicholson Daniel A;Krainc Dimitri;Melen Onur... |
| 21 | The role of genetics in Parkinson's Disease: a large cohort study in Chinese mainland population | 期刊论文 | Zhao YW;Qin LX;Pan H;Liu Z;Jiang L;He Y;Zeng Q;Zhou X;Zhou X;Zhou Y;Fang Z;Wang Z;Xiang Y;Yang H;Wang Y;Zhang K;Zhang R;He R;Zhou X;Zhou Z;Yang N;Liang D;Chen J;Zhang X;Zhou Y;Liu H;Deng P;Xu K;Xu K;Zhou C;Zhong J;Xu Q;Sun Q;Liu B;Zhao G;Wang T;Chen L;Shang H;Liu W;Chan P;Xue Z;Wang Q;Guo L;Wang X;Xu C;Zhang Z;Chen T;Lei L;Zhang H;Wang C;Tan J;Yan X;Shen L;Jiang H;Zhang Z... |
| 22 | Analysis of (CAG)(n) expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy | 期刊论文 | Zhou X;Wang C;Ding D;Chen Z;Peng Y;Peng H;Hou X;Wang P;Hou X;Ye W;Li T;Yang H;Qiu R;Xia K;Sequeiros J;Tang B;Jiang H |
| 23 | Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene | 期刊论文 | Yin Xiao Meng;Lin Jing Han;Cao Li;Zhang Tong Mei;Zeng Sheng;Zhang Kai Lin;Tian Wo Tu;Hu Zheng Mao;Li Nan;Wang Jun Ling;Guo Ji Feng;Wang Ruo Xi;Xia Kun;Zhang Zhuo Hua;Yin Fei;Peng Jing;Liao Wei Ping;Yi Yong Hong;Liu Jing Yu;Yang Zhi Xian;Chen Zhong;Mao Xiao;Yan Xin Xiang;Jiang Hong;Shen Lu;Chen Sheng Di;Zhang Li Ming;Tang Bei Sha |
| 24 | TMEM230 mutation analysis in Parkinson's disease in a Chinese population | 期刊论文 | Yan Weiqian;Tang Beisha;Zhou Xiaoxia;Lei Lifang;Li Kai;Sun Qiying;Xu Qian;Yan Xinxiang;Guo Jifeng;Liu Zhenhua |
| 25 | A Comprehensive Analysis of the Association Between SNCA Polymorphisms and the Risk of Parkinson's Disease | 期刊论文 | Zhang Yuan;Shu Li;Sun Qiying;Pan Hongxu;Guo Jifeng;Tang Beisha |
| 26 | Systematically analyzing rare variants of autosomal-dominant genes for sporadic Parkinson's disease in a Chinese cohort | 期刊论文 | Yang Nannan;Zhao Yuwen;Liu Zhenhua;Zhang Rui;He Yan;Zhou Yangjie;Xua Qian;Sun Qiying;Yan Xinxiang;Guo Jifeng;Tang Beisha |
| 27 | Lack of association between IL-10 and IL-18 gene promoter polymorphisms and Parkinson's disease with cognitive impairment in a Chinese population | 期刊论文 | Liu Zhenhua;Guo Jifeng;Wang Yaqin;Li Kai;Kang Jifeng;Wei Yang;Sun Qiying;Xu Qian;Xu Changshui;Yan Xinxiang;Tang Beisha |
| 28 | LRRK2 A419V variant is a risk factor for Parkinson's disease in Asian population | 期刊论文 | Li Kai;Tang Bei sha;Liu Zhen hua;Kang Ji feng;Zhang Yuan;Shen Lu;Li Nan;Yan Xin xiang;Xia Kun;Guo Ji feng |
| 29 | BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage | 期刊论文 | Qin Li Xia;Tan Jie qiong;Zhang Hai nan;Rizwana Kousar;Lu Jia hong;Tang Jian guang;Jiang Bo;Shen Xiang min;Guo Ji feng;Tang Bei sha;Tan Li ming;Wang Chun yu |
| 30 | Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China | 期刊论文 | Zhou Yao;Yuan Yanchun;Liu Zhen;Zeng Sheng;Chen Zhao;Shen Lu;Jiang Hong;Xia Kun;Tang Beisha;Wang Junling |
| 31 | The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients | 期刊论文 | Fan Kuan;Tang Bei sha;Wang Ya qin;Kang Ji feng;Li Kai;Liu Zhen hua;Sun Qi ying;Xu Qian;Yan Xin xiang;Guo Ji feng |
| 32 | Impaired iPLA(2)beta activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA(2)beta activity as the cause of iron deposition in PLAN | 期刊论文 | Guo Yu-pei;Tang Bei-sha;Liu Hong-li;Huang Juan-juan;Xu Qian;Sun Qi-ying;Yan Xin-xiang;Guo Ji-feng |
| 33 | Polygenic determinants of Parkinson's disease in a Chinese population | 期刊论文 | Guo Ji Feng;Li Kai;Yu Ri Li;Sun Qi Yin;Wang Lei;Yao Ling Yan;Hu Ya Cen;Lv Zhan Yun;Luo Lin Zi;Shen Lu;Jiang Hong;Yan Xin Xiang;Pan Qian;Xia Kun;Tang Bei Sha |
| 34 | 多巴反应性肌张力障碍相关基因突变、其检测方法及其用途 | 专利 | 郭纪锋;唐北沙;严新翔;张峪涵;肖晶晶;刘轩竹;王俊;汪建;杨焕明 |
| 35 | Association of HIF1A and Parkinson's disease in a Han Chinese population demonstrated by molecular inversion probe analysis | 期刊论文 | Qin Lixia;Shu Li;Zhong Junfei;Pan Hongxu;Guo Jifeng;Sun Qiying;Yan Xinxiang;Tang Beisha;Xu Qian |
| 36 | MicroRNA-26a/Death-Associated Protein Kinase 1 Signaling Induces Synucleinopathy and Dopaminergic Neuron Degeneration in Parkinson's Disease | 期刊论文 | Su Ying;Deng Man Fei;Xiong Wan;Xie Ao Ji;Guo Jifeng;Liang Zhi Hou;Hu Bo;Chen Jian Guo;Zhu Xiongwei;Man Heng Ye;Lu Youming;Liu Dan;Tang Beisha;Zhu Ling Qiang |
| 37 | The Application of Human iPSCs in Neurological Diseases: From Bench to Bedside | 期刊论文 | Xie Nina;Tang Beisha |
| 38 | 2016年湖南省自然科学奖一等奖 | 奖励 | 唐北沙 |
| 39 | Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines | 期刊论文 | Mao Xiao;Li Kai;Tang Beisha;Luo Yang;Ding Dongxue;Zhao Yuwen;Wang Chunrong;Zhou Xiaoting;Liu Zhenhua;Zhang Yuan;Wang Puzhi;Xu Qian;Sun Qiying;Xia Kun;Yan Xinxiang;Jiang Hong;Lu Shen;Guo Jifeng |
| 40 | Rare GCH1 heterozygous variants contributing to Parkinson's disease | 期刊论文 | Xu Qian;Li Kai;Sun Qiying;Ding Dongxue;Zhao Yuwen;Yang Nannan;Luo Yang;Liu Zhenhua;Zhang Yuan;Wang Chunrong;Xia Kun;Yan Xinxiang;Jiang Hong;Shen Lu;Tang Beisha;Guo Jifeng |
| 41 | The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population | 期刊论文 | Yu Ri li;Guo Ji feng;Wang Ya qin;Liu Zhen hua;Sun Zhan fang;Su Li;Zhang Yuan;Yan Xin xiang;Tang Bei sha |
| 42 | Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population | 期刊论文 | Zhang Yuan;Zhao Yuwen;Zhou Xiaoting;Li Kai;Yi Minhan;Guo Jifeng;Yan Xinxiang;Tang Beisha;Sun Qiying |
| 43 | Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease | 期刊论文 | Liu Zhenhua;Guo Jifeng;Li Kai;Qin Lixia;Kang Jifeng;Shu Li;Zhang Yuan;Wei Yang;Yang Nannan;Luo Yang;Sun Qiying;Xu Qian;Yan Xinxiang;Tang Beisha |
| 44 | Identification of Ser465 as a novel PINK1 autophosphorylation site | 期刊论文 | Guo Ji feng;Yao Ling yan;Sun Qi ying;Cui Yi ting;Yang Yang;Xu Qian;Yan Xin xiang;Tang Bei sha |
| 45 | Direct and selective lineage conversion of human fibroblasts to dopaminergic precursors | 期刊论文 | He Miao;Zhang Hainan;Li Yuju;Tian Changhai;Tang Beisha;Huang Yunlong;Zheng Jialin |
| 46 | Alzheimer's disease susceptibility genes modify the risk of Parkinson disease and Parkinson's disease-associated cognitive impairment | 期刊论文 | Fang Lu;Tang Bei sha;Fan Kuan;Wan Chang min;Yan Xin xiang;Guo Ji feng |
| 47 | Novel Epigenetic Techniques Provided by the CRISPR/Cas9 System | 期刊论文 | Xie Nina;Zhou Yafang;Sun Qiying;Tang Beisha |
| 48 | A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease | 期刊论文 | Shu Li;Zhang Yuan;Sun Qiying;Pan Hongxu;Tang Beisha |
| 49 | The rs3756063 polymorphism is associated with SNCA methylation in the Chinese Han population | 期刊论文 | Wei Yang;Yang Nannan;Xu Qian;Sun Qiying;Guo Jifeng;Li Kai;Liu Zhenhua;Yan Xinxiang;Zhu Xiongwei;Tang Beisha |
| 50 | Genetic analysis of DNA methylation and hydroxymethylation genes in Parkinson's disease | 期刊论文 | Shu Li;Qin Lixia;Min Shishi;Pan Hongxu;Zhong Junfei;Guo Jifeng;Sun Qiying;Yan Xinxiang;Chen Chao;Tang Beisha;Xu Qian |
| 51 | Preliminary study of hsa-miR-626 change in the cerebrospinal fluid of Parkinson's disease patients | 期刊论文 | Qin Li-xia;Tan Jie-qiong;Zhang Hai-nan;Tang Jian-guang;Jiang Bo;Shen Xiang-min;Tang Bei-sha;Wang Chun-yu |
| 52 | Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease | 期刊论文 | Guo JF;Dong XL;Xu Q;Li N;Yan XX;Xia K;Tang BS |
| 53 | Coding mutations in NUS1 contribute to Parkinson's disease | 期刊论文 | Guo Ji feng;Zhang Lu;Li Kai;Mei Jun pu;Xue Jin;Chen Jia;Tang Xia;Shen Lu;Jiang Hong;Chen Chao;Guo Hui;Sun Si long;Xu Qian;Sun Qi ying;Chan Piu;Shang Hui fang;Wang Tao;Zhao Guo hua;Liu Jing yu;Xie Xue feng;Jiang Yi qi;Liu Zhen hua;Zhao Yu wen;Hu Zheng mao;Yan Xin xiang;Fang Xiao dong;Wang Guang hui;Zhang Feng yu;Xia Kun;Liu Chun yu;Zhu Xiong wei;Yue Zhen yu;Li Shuai Cheng;Cai Huai bin... |
| 54 | Conditional Haploinsufficiency of beta-Catenin Aggravates Neuronal Damage in a Paraquat-Based Mouse Model of Parkinson Disease | 期刊论文 | Zhao Fanpeng;Siedlak Sandra L;Torres Sandy L;Xu Qian;Tang Beisha;Zhu Xiongwei |
| 55 | Relationship between GWAS-linked three new loci in Essential tremor and risk of Parkinson's disease in Chinese population | 期刊论文 | Zhang Yuan;Zhao Yuwen;Zhou Xiaoting;Yi Minhan;Li Kai;Zhou Xun;Guo Jifeng;Xu Qian;Yan Xinxiang;Tang Beisha;Sun Qiying |
| 56 | Identifying the presence of Parkinson's disease using low-frequency fluctuations in BOLD signals | 期刊论文 | Tang Yan;Meng Li;Wan Chang min;Liu Zhen hua;Liao Wei hua;Yan Xin xiang;Wang Xiao yu;Tang Bei sha;Guo Ji feng |
| 57 | Altered Functional Brain Connectomes between Sporadic and Familial Parkinson's Patients | 期刊论文 | Tang Yan;Xiao Xue;Xie Hua;Wan Chang min;Meng Li;Liu Zhen hua;Liao Wei hua;Tang Bei sha;Guo Ji feng |
| 58 | Microglial Activation in the Pathogenesis of Huntington's Disease | 期刊论文 | Yang Hui Ming;Yang Su;Huang Shan Shan;Tang Bei Sha;Guo Ji Feng |
| 59 | Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders | 期刊论文 | Tian Yun;Wang Jun Ling;Huang Wen;Zeng Sheng;Jiao Bin;Liu Zhen;Chen Zhao;Li Yujing;Wang Ying;Min Hao Xuan;Wang Xue Jing;You Yong;Zhang Ru Xu;Chen Xiao Yu;Yi Fang;Zhou Ya Fang;Long Hong Yu;Zhou Chao Jun;Hou Xuan;Wang Jun Pu;Xie Bin;Liang Fan;Yang Zhuan Yi;Sun Qi Ying;Allen Emily G;Shafik Andrew Mark;Kong Ha Eun;Guo Ji Feng;Yan Xin Xiang;Hu Zheng Mao;Xia Kun;Jiang Hong;Xu Hong Wei;Duan Ran Hui... |
| 60 | A Meta-Analysis of GBA-Related Clinical Symptoms in Parkinson's Disease | 期刊论文 | Zhang Yuan;Shu Li;Zhou Xun;Pan Hongxu;Xu Qian;Guo Jifeng;Tang Beisha;Sun Qiying |
| 61 | RAB39B gene mutations are not linked to familial Parkinson's disease in China | 期刊论文 | Kang Ji feng;Luo Yang;Tang Bei sha;Wan Chang min;Yang Yang;Li Kai;Liu Zhen hua;Sun Qi ying;Xu Qian;Yan Xin xiang;Guo Ji feng |
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