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学科主题: 临床医学
题名:
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma
作者: Guo, Guangwu1; Gui, Yaoting2; Gao, Shengjie1; Tang, Aifa2,3; Hu, Xueda1; Huang, Yi2,3; Jia, Wenlong1; Li, Zesong2,3; He, Minghui1; Sun, Liang2; Song, Pengfei1; Sun, Xiaojuan3; Zhao, Xiaokun4; Yang, Sangming1; Liang, Chaozhao5; Wan, Shengqing1; Zhou, Fangjian6; Chen, Chao1; Zhu, Jialou1,7; Li, Xianxin2; Jian, Minghan1; Zhou, Liang2; Ye, Rui1; Huang, Peide1; Chen, Jing2; Jiang, Tao1; Liu, Xiao1; Wang, Yong2; Zou, Jing1; Jiang, Zhimao2; Wu, Renhua1; Wu, Song2; Fan, Fan1; Zhang, Zhongfu2; Liu, Lin1; Yang, Ruilin2; Liu, Xingwang1; Wu, Haibo1; Yin, Weihua2; Zhao, Xia1; Liu, Yuchen2; Peng, Huanhuan1; Jiang, Binghua2; Feng, Qingxin2; Li, Cailing2; Xie, Jun2; Lu, Jingxiao2; Kristiansen, Karsten1,8; Li, Yingrui1; Zhang, Xiuqing1; Li, Songgang1; Wang, Jian1; Yang, Huanming1; Cai, Zhiming2,3; Wang, Jun1,8,9< !E class="metadataFieldLabel">刊名: NATURE GENETICS
发表日期: 2012
DOI: 10.1038/ng.1014
卷: 44, 期:1, 页:17-19
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: SOMATIC MUTATIONS ; CANCER
英文摘要:

We sequenced whole exomes of ten clear cell renal cell carcinomas (ccRCCs) and performed a screen of similar to 1,100 genes in 88 additional ccRCCs, from which we discovered 12 previously unidentified genes mutated at elevated frequencies in ccRCC. Notably, we detected frequent mutations in the ubiquitin-mediated proteolysis pathway (UMPP), and alterations in the UMPP were significantly associated with overexpression of HIF1 alpha and HIF2 alpha in the tumors (P = 0.01 and 0.04, respectively). Our findings highlight the potential contribution of UMPP to ccRCC tumorigenesis through the activation of the hypoxia regulatory network.

语种: 英语
所属项目编号: 2011CB809200 ; 30725008 ; 30890032 ; 30811130531 ; 2006AA02A301 ; 2006AA02A302 ; 2009AA022707 ; JC200903190767A ; JC200903190772A ; ZYC200903240076A ; CXB200903110066A ; ZYC200903240077A ; ZYC200903240080A ; CXB200903090055A ; CXB201005250016A ; CXC201005260001A
项目资助者: National Basic Research Program of China (973 program) ; National Natural Science Foundation of China ; Chinese 863 program ; Shenzhen Municipal Government of China ; Promotion Program for Shenzhen Key Laboratory, Shenzhen, China ; Biobank of Complex Diseases in Shenzhen ; Shenzhen municipal government ; local government of the Yantian District of Shenzhen
WOS记录号: WOS:000298664000007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60149
Appears in Collections:北京大学深圳医院_泌尿外科_期刊论文

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作者单位: 1.Wuhan Univ, Coll Life Sci, Wuhan 430072, Peoples R China
2.Univ Copenhagen, Dept Biol, Copenhagen, Denmark
3.BGI Shenzhen, Shenzhen Key Lab Trans Biotechnol, Shenzhen, Peoples R China
4.Peking Univ, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Inst Urol, Shenzhen Hosp,Shenzhen PKU HKUST Med Ctr, Shenzhen, Peoples R China
5.Shenzhen Univ, Shenzhen Peoples Hosp 2, Affiliated Hosp 1, Shenzhen, Peoples R China
6.Central So Univ, Xiangya Hosp 2, Dept Urol, Changsha, Peoples R China
7.Anhui Med Univ, Affiliated Hosp 1, Dept Urol, Hefei, Peoples R China
8.Sun Yat Sen Univ, Ctr Canc, Dept Urol, Guangzhou 510275, Guangdong, Peoples R China
9.Univ Copenhagen, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark

Recommended Citation:
Guo, Guangwu,Gui, Yaoting,Gao, Shengjie,et al. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma[J]. NATURE GENETICS,2012,44(1):17-19.
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