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IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors.位于第132位残基的异柠檬酸脱氢酶1(IDH1)突变(IDH1(R132))在高级别胶质瘤中频繁出现,但在其他实体瘤中则不然。
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本文引用的文献

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Minichromosome Maintenance (MCM) Family as potential diagnostic and prognostic tumor markers for human gliomas.微小染色体维持(MCM)家族作为人类胶质瘤潜在的诊断和预后肿瘤标志物。
BMC Cancer. 2014 Jul 21;14:526. doi: 10.1186/1471-2407-14-526.
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Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10.卵巢癌风险与 NF-κB 通路:IL1A 和 TNFSF10 的遗传关联。
Cancer Res. 2014 Feb 1;74(3):852-61. doi: 10.1158/0008-5472.CAN-13-1051. Epub 2013 Nov 22.
3
IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas.异柠檬酸脱氢酶 1 或 2 突变可预测低级别胶质瘤患者的生存时间延长和对替莫唑胺的反应。
Neurology. 2010 Oct 26;75(17):1560-6. doi: 10.1212/WNL.0b013e3181f96282.
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Characterization of the substrate specificity of human carboxypeptidase A4 and implications for a role in extracellular peptide processing.人羧肽酶A4的底物特异性表征及其在细胞外肽加工中的作用意义
J Biol Chem. 2010 Jun 11;285(24):18385-96. doi: 10.1074/jbc.M109.060350. Epub 2010 Apr 12.
5
IDH1 and IDH2 mutations in gliomas and the associated induction of hypoxia-inducible factor and production of 2-hydroxyglutarate.胶质瘤中的异柠檬酸脱氢酶1(IDH1)和异柠檬酸脱氢酶2(IDH2)突变以及缺氧诱导因子的相关诱导和2-羟基戊二酸的产生。
Neurosurgery. 2010 Apr;66(4):N20-1. doi: 10.1227/01.neu.0000369899.41915.67.
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The pathobiology of glioma tumors.神经胶质瘤肿瘤的病理生物学。
Annu Rev Pathol. 2010;5:33-50. doi: 10.1146/annurev-pathol-121808-102109.
7
Recurring mutations found by sequencing an acute myeloid leukemia genome.通过对急性髓系白血病基因组进行测序发现的复发性突变。
N Engl J Med. 2009 Sep 10;361(11):1058-66. doi: 10.1056/NEJMoa0903840. Epub 2009 Aug 5.
8
IDH1 and IDH2 mutations in gliomas.胶质瘤中的异柠檬酸脱氢酶1(IDH1)和异柠檬酸脱氢酶2(IDH2)突变
N Engl J Med. 2009 May 21;360(21):2248-9; author reply 2249.
9
IDH1 and IDH2 mutations in gliomas.胶质瘤中的异柠檬酸脱氢酶1(IDH1)和异柠檬酸脱氢酶2(IDH2)突变
N Engl J Med. 2009 May 21;360(21):2248; author reply 2249. doi: 10.1056/NEJMc090593.
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Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer.羧肽酶4基因变异与早发性中高危前列腺癌
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通过基因芯片在胶质瘤细胞U87中鉴定由异柠檬酸脱氢酶1(IDH1)调控的基因。

Identifying the genes regulated by IDH1 via gene-chip in glioma cell U87.

作者信息

Ren Jie, Lou Meiqing, Shi Jinlong, Xue Yajun, Cui Daming

机构信息

Department of Neurosurgery, Shanghai Tenth People's Hospital, Tongji University School of Medicine Shanghai, China.

Department of Neurosurgery, Shanghai First People's Hospital, Shanghai Jiao Tong University School of Medicine Shanghai, China.

出版信息

Int J Clin Exp Med. 2015 Oct 15;8(10):18090-8. eCollection 2015.

PMID:26770405
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4694305/
Abstract

Glioma is the most common form of primary brain tumor. Increasing evidence show that IDH1 gene mutation is implicated in glioma. However, the mechanism involved in the progression of glioma remains unclear until now. In the study reported here, we used gene chip to identifying the genes regulated with IDH mutanted at R132. The results showed that IDH1-mutant leads to 1255 up-regulated genes and 1862 down-regulated genes in U87 cell lines. Meanwhile, GO and gene-network was performed and shown IDH1-mutant mainly affect small molecule metabolic process, mitotic cell cycle and apoptosis. This result will lay a foundation for further study of IDH1 gene function in the future.

摘要

神经胶质瘤是原发性脑肿瘤最常见的形式。越来越多的证据表明,异柠檬酸脱氢酶1(IDH1)基因突变与神经胶质瘤有关。然而,迄今为止,神经胶质瘤进展所涉及的机制仍不清楚。在本文报道的研究中,我们使用基因芯片来鉴定受R132位点IDH突变调控的基因。结果显示,在U87细胞系中,IDH1突变导致1255个基因上调和1862个基因下调。同时,进行了基因本体(GO)和基因网络分析,结果表明IDH1突变主要影响小分子代谢过程、有丝分裂细胞周期和细胞凋亡。这一结果将为未来进一步研究IDH1基因功能奠定基础。