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Spontaneous loss of heterozygosity leading to homozygous R132H in a patient-derived IDH1 mutant cell line.

作者信息

Luchman H Artee, Chesnelong Charles, Cairncross J Gregory, Weiss Samuel

出版信息

Neuro Oncol. 2013 Aug;15(8):979-80. doi: 10.1093/neuonc/not064. Epub 2013 Jun 11.

DOI:10.1093/neuonc/not064
PMID:23757293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3714156/
Abstract
摘要

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1
Spontaneous loss of heterozygosity leading to homozygous R132H in a patient-derived IDH1 mutant cell line.在一个患者来源的异柠檬酸脱氢酶1(IDH1)突变细胞系中,杂合性的自发丧失导致了纯合的R132H突变。
Neuro Oncol. 2013 Aug;15(8):979-80. doi: 10.1093/neuonc/not064. Epub 2013 Jun 11.
2
Isocitrate dehydrogenase 1 R132H mutation is not detected in angiocentric glioma.未见血管中心性胶质瘤中异柠檬酸脱氢酶 1 R132H 突变。
Ann Diagn Pathol. 2012 Aug;16(4):255-9. doi: 10.1016/j.anndiagpath.2011.11.003. Epub 2012 Mar 23.
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An in vivo patient-derived model of endogenous IDH1-mutant glioma.体内源性 IDH1 突变型神经胶质瘤的患者衍生模型。
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4
[Mutations of IDH1 and 2 genes: a molecular diagnosis of low-grade gliomas].异柠檬酸脱氢酶1和2基因的突变:低级别胶质瘤的分子诊断
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Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.IDH1 中除非 p.R132H 突变的分离存在于不同的胶质瘤分子亚型中。
Hum Mutat. 2010 Mar;31(3):E1186-99. doi: 10.1002/humu.21201.
6
R132H mutation in IDH1 gene reduces proliferation, cell survival and invasion of human glioma by downregulating Wnt/β-catenin signaling.异柠檬酸脱氢酶1(IDH1)基因中的R132H突变通过下调Wnt/β-连环蛋白信号传导来降低人胶质瘤的增殖、细胞存活和侵袭能力。
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7
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8
Isocitrate dehydrogenase 1 mutation subtypes at site 132 and their translational potential in glioma.异柠檬酸脱氢酶1第132位位点的突变亚型及其在胶质瘤中的翻译潜力。
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IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway.异柠檬酸脱氢酶1(IDH1)R132H突变通过Nrf2途径调节胶质瘤的化疗敏感性。
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IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.IDH1-R132H 通过表观遗传地上调 DNA 损伤反应在神经胶质瘤中作为肿瘤抑制因子发挥作用。
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Oncometabolite 2-hydroxyglutarate regulates anti-tumor immunity.肿瘤代谢物2-羟基戊二酸调节抗肿瘤免疫。
Heliyon. 2024 Jan 10;10(2):e24454. doi: 10.1016/j.heliyon.2024.e24454. eCollection 2024 Jan 30.
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The prognostic impact of subclonal IDH1 mutation in grade 2-4 astrocytomas.2-4级星形细胞瘤中亚克隆性异柠檬酸脱氢酶1(IDH1)突变的预后影响
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Preclinical modeling of lower-grade gliomas.低级别胶质瘤的临床前建模
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Characterization of an IDH1 R132H Rabbit Monoclonal Antibody, MRQ-67, and Its Applications in the Identification of Diffuse Gliomas.IDH1 R132H兔单克隆抗体MRQ-67的特性及其在弥漫性胶质瘤鉴定中的应用
Antibodies (Basel). 2023 Feb 6;12(1):14. doi: 10.3390/antib12010014.
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Isocitrate dehydrogenase (IDH) mutant gliomas: A Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions.异柠檬酸脱氢酶(IDH)突变型脑胶质瘤:神经肿瘤学会(SNO)关于诊断、管理和未来方向的共识综述。
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De novo pyrimidine synthesis is a targetable vulnerability in IDH mutant glioma.异柠檬酸脱氢酶突变型脑胶质瘤中从头嘧啶合成是一个可靶向的弱点。
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Deuterium magnetic resonance spectroscopy enables noninvasive metabolic imaging of tumor burden and response to therapy in low-grade gliomas.氘磁共振波谱成像可用于无创性代谢成像,以评估低级别胶质瘤的肿瘤负荷和对治疗的反应。
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Metabolic adaptations in cancers expressing isocitrate dehydrogenase mutations.表达异柠檬酸脱氢酶突变的癌症中的代谢适应。
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本文引用的文献

1
The potential for isocitrate dehydrogenase mutations to produce 2-hydroxyglutarate depends on allele specificity and subcellular compartmentalization.异柠檬酸脱氢酶突变产生 2-羟基戊二酸的潜力取决于等位基因特异性和亚细胞区室化。
J Biol Chem. 2013 Feb 8;288(6):3804-15. doi: 10.1074/jbc.M112.435495. Epub 2012 Dec 21.
2
Disruption of wild-type IDH1 suppresses D-2-hydroxyglutarate production in IDH1-mutated gliomas.野生型 IDH1 的破坏可抑制 IDH1 突变型胶质瘤中 D-2-羟戊二酸的产生。
Cancer Res. 2013 Jan 15;73(2):496-501. doi: 10.1158/0008-5472.CAN-12-2852. Epub 2012 Nov 30.
3
An in vivo patient-derived model of endogenous IDH1-mutant glioma.体内源性 IDH1 突变型神经胶质瘤的患者衍生模型。
Neuro Oncol. 2012 Feb;14(2):184-91. doi: 10.1093/neuonc/nor207. Epub 2011 Dec 13.