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夏昆
博士
研究方向: 人类遗传性疾病致病基因定位、克隆和分子致病机制研究
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592条记录,
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation
WOS被引频次:222
SCI-EMedline
作者: Xiong, Hui;Wang, Danling;Chen, Linan;Choo, Yeun Su;Ma, Hong;Tang, Chengyuan;Xia, Kun;Jiang, Wei;Ronai, Ze'ev;Zhuang, Xiaoxi;Zhang, Zhuohua*
期刊: The Journal of clinical investigation,2009年119(3):650-660 ISSN:0021-9738
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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
WOS被引频次:159
SCI-EMedline
作者: Wang, Jun Ling;Yang, Xu;Xia, Kun;Hu, Zheng Mao;Weng, Ling;Jin, Xin;Jiang, Hong;Zhang, Peng;Shen, Lu;Guo, Ji Feng;Li, Nan;Li, Ying Rui;Lei, Li Fang;Zhou, Jie;Du, Juan;Zhou, Ya Fang;Pan, Qian;Wang, Jian;Wang, Jun;Li, Rui Qiang
期刊: Brain,2010年133(12):3510-3518 ISSN:0006-8950
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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
WOS被引频次:156
SCI-EMedline
作者: Wang, Jun-Ling;Cao, Li;Li, Xun-Hua;Hu, Zheng-Mao;Li, Jia-Da;Zhang, Jian-Guo;Liang, Yu;San-A;Li, Nan;Chen, Su-Qin;Guo, Ji-Feng;Jiang, Hong;Shen, Lu;Zheng, Lan;Mao, Xiao;Yan, Wei-Qian;Zhou, Ying;Shi, Yu-Ting;Ai, San-Xi;Dai, Mei-Zhi
期刊: Brain,2011年134(12):3490-3498 ISSN:0006-8950
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
WOS被引频次:93
ESI高被引SCI-EMedline
作者: Stessman, Holly A. F.;Xiong, Bo;Coe, Bradley P.;Wang, Tianyun;Hoekzema, Kendra;Fenckova, Michaela;Kvarnung, Malin;Gerdts, Jennifer;Trinh, Sandy;Cosemans, Nele;Vives, Laura;Lin, Janice;Turner, Tychele N.;Santen, Gijs;Ruivenkamp, Claudia;Kriek, Marjolein;van Haeringen, Arie;Aten, Emmelien;Friend, Kathryn;Liebelt, Jan
期刊: Nature Genetics,2017年49(4):515 ISSN:1061-4036
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De novo genic mutations among a Chinese autism spectrum disorder cohort
WOS被引频次:67
SCI-EMedline
作者: Wang, Tianyun;Guo, Hui;Xiong, Bo;Stessman, Holly A. F.;Wu, Huidan;Coe, Bradley P.;Turner, Tychele N.;Liu, Yanling;Zhao, Wenjing;Hoekzema, Kendra;Vives, Laura;Xia, Lu;Tang, Meina;Ou, Jianjun;Chen, Biyuan;Shen, Yidong;Xun, Guanglei;Long, Min;Lin, Janice;Kronenberg, Zev N.
期刊: Nature Communications,2016年7 ISSN:2041-1723
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Regulator of calcineurin 1 (RCAN1) facilitates neuronal apoptosis through caspase-3 activation
WOS被引频次:61
SCI-EEIMedline
作者: Sun, Xiulian;Wu, Yili;Chen, Bin;Zhang, Zhuohua;Zhou, Weihui;Tong, Yigang;Yuan, Junying;Xia, Kun;Gronemeyer, Hinrich;Flavell, Richard A.;Song, Weihong*
期刊: Journal of Biological Chemistry,2011年286(11):9049-9062 ISSN:0021-9258
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Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
WOS被引频次:55
SCI-EMedline
作者: Li, Jinchen;Cai, Tao;Jiang, Yi;Chen, Huiqian;He, Xin;Chen, Chao;Li, Xianfeng;Shao, Qianzhi;Ran, Xia;Li, Zhongshan;Xia, Kun;Liu, Chunyu*;Sun, Zhong Sheng*;Wu, Jinyu*
期刊: Molecular Psychiatry,2015年21(2):290- ISSN:1476-5578
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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
WOS被引频次:55
SCI-EMedline
作者: Zhang, Sheng-Quan;Jiang, Tao;Li, Min;Zhang, Xin;Ren, Yun-Qing;Wei, Sheng-Cai;Sun, Liang-Dan;Cheng, Hui;Li, Yang;Yin, Xian-Yong;Hu, Zheng-Mao;Wang, Zhen-Ying;Liu, Yuan;Guo, Bi-Rong;Tang, Hua-Yang;Tang, Xian-Fa;Ding, Yan-Tao;Wang, Jian-Bo;Li, Ping;Wu, Bao-Yu
期刊: Nature Genetics,2012年44(10):1156-1160 ISSN:1061-4036
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miR-33a functions as a tumor suppressor in melanoma by targeting HIF-1alpha.
WOS被引频次:54
SCI-EMedline
作者: Zhou, Jianda;Xu, Dan;Xie, Huiqing;Tang, Jingtian;Liu, Rui;Li, Jingjing;Wang, Shaohua;Chen, Xiang;Su, Juan;Zhou, Xiao;Xia, Kun;He, Quanyong;Chen, Jia;Xiong, Wei;Cao, Peiguo;Cao, Ke*
期刊: Cancer Biology and Therapy,2015年16(6):846-55 ISSN:1538-4047
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Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome
WOS被引频次:39
SCI-EMedline
作者: Chen, Hongsheng;Jiang, Lu;Xie, Zhiguo;Mei, Lingyun;He, Chufeng;Hu, Zhengmao;Xia, Kun;Feng, Yong*
期刊: Biochemical and Biophysical Research Communications,2010年397(1):70-4 ISSN:1090-2104
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A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis
WOS被引频次:38
SCI-EMedline
作者: Xiang, Rong;Fan, Liang-Liang;Huang, Hao;Cao, Bei-Bei;Li, Xiang-Ping;Peng, Dao-Quan*;Xia, Kun
期刊: Gene,2014年534(2):320-3 ISSN:0378-1119
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Mutation analysis of the NRXN1 gene in a Chinese autism cohort
WOS被引频次:18
SCI-ESSCIMedline
作者: Liu, Yalan;Hu, Zhengmao;Xun, Guanglei;Peng, Yu;Lu, Lina;Xu, Xiaojuan;Xiong, Zhimin;Xia, Lu;Liu, Deyuan;Li, Wei;Zhao, Jingping*;Xia, Kun
期刊: Journal of Psychiatric Research,2012年46(5):630-634 ISSN:0022-3956
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
WOS被引频次:33
SCI-EMedline
作者: Stessman, Holly A. F.;Willemsen, Marjolein H.*;Fenckova, Michaela;Penn, Osnat;Hoischen, Alexander;Xiong, Bo;Wang, Tianyun;Hoekzema, Kendra;Vives, Laura;Voge, Ida;Brunner, Han G.;van der Burgt, Ineke;Ockeloen, Charlotte W.;Schuurs-Hoeijmakers, Janneke H.;Wassink-Ruiter, Jolien S. Klein;Stumpel, Connie;Stevens, Servi J. C.;Vles, Hans S.;Marcelis, Carlo M.;van Bokhoven, Hans
期刊: The American Journal of Human Genetics,2016年98(3):541-552 ISSN:0002-9297
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Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
WOS被引频次:32
SCI-EMedline
作者: Chen, Shan;Li, Zongchang;He, Ying;Zhang, Fengyu;Li, Hong;Liao, Yanhui;Wei, Zhen;Wan, Guobin;Xiang, Xi;Hu, Maolin;Xia, Kun;Chen, Xiaogang*;Tang, Jinsong
期刊: BMC Psychiatry,2015年15(1):50- ISSN:1471-244X
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
WOS被引频次:32
SCI-EMedline
作者: Geisheker, Madeleine R.;Heymann, Gabriel;Wang, Tianyun;Coe, Bradley P.;Turner, Tychele N.;Stessman, Holly A. F.;Hoekzema, Kendra;Kvarnung, Malin;Shaw, Marie;Friend, Kathryn;Liebelt, Jan;Barnett, Christopher;Thompson, Elizabeth M.;Haan, Eric;Guo, Hui;Anderlid, Britt-Marie;Nordgren, Ann;Lindstrand, Anna;Vandeweyer, Geert;Alberti, Antonino
期刊: Nature Neuroscience,2017年20(8):1043-1051 ISSN:1097-6256
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No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population
WOS被引频次:15
SCI-ESSCIMedline
作者: He, Yiqun;Xun, Guanglei;Xia, Kun;Hu, Zhengmao;Lv, Luxian;Deng, Zemin;Zhao, Jingping*
期刊: Psychiatry Research,2011年187(3):462-464 ISSN:0165-1781
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Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
WOS被引频次:31
SCI-EMedline
作者: Shi, Yuting;Wang, Junling;Li, Jia-Da;Ren, Haigang;Guan, Wenjuan;He, Miao;Yan, Weiqian;Zhou, Ying;Hu, Zhengmao;Zhang, Jianguo;Xiao, Jingjing;Su, Zheng;Dai, Meizhi;Wang, Jun;Jiang, Hong;Guo, Jifeng;Zhou, Yafang;Zhang, Fufeng;Li, Nan;Du, Juan
期刊: PLOS ONE,2013年8(12) ISSN:1932-6203
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miR-222 attenuates cisplatin-induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells
WOS被引频次:31
SCI-EMedline
作者: Zeng, Li-Ping;Hu, Zheng-Mao;Li, Kai;Xia, Kun*
期刊: Journal of Cellular and Molecular Medicine,2016年20(3):559-567 ISSN:1582-1838
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SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
WOS被引频次:30
SCI-EMedline
作者: Guo, Hui;Jin, Xuemin;Zhu, Tengfei;Wang, Tianyun;Tong, Ping;Tian, Lei;Peng, Yu;Sun, Liangdan;Wan, Anran;Chen, Jingjing;Liu, Yanling;Li, Ying;Tian, Qi;Xia, Lu;Zhang, Lusi;Pan, Yongcheng;Lu, Lina;Liu, Qiong;Shen, Lu;Li, Yunping
期刊: Journal of Medical Genetics,2014年51(8):518-525 ISSN:0022-2593
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Methylation profiling of 48 candidate genes in tumor and matched normal tissues from breast cancer patients
WOS被引频次:30
SCI-EMedline
作者: Li, Zibo;Guo, Xinwu;Wu, Yepeng;Li, Shengyun;Yan, Jinhua;Peng, Limin;Xiao, Zhi;Wang, Shouman;Deng, Zhongping;Dai, Lizhong;Yi, Wenjun;Xia, Kun;Tang, Lili;Wang, Jun*
期刊: Breast Cancer Research and Treatment,2015年149(3):767-79 ISSN:0167-6806
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