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JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.

作者信息

Cleyrat C, Jelinek J, Girodon F, Boissinot M, Ponge T, Harousseau J-L, Issa J-P, Hermouet S

出版信息

Leukemia. 2010 May;24(5):1069-73. doi: 10.1038/leu.2010.23. Epub 2010 Feb 25.

DOI:10.1038/leu.2010.23
PMID:20182460
Abstract
摘要

相似文献

1
JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.JAK2突变与疾病表型:JAK2的顺式双L611V/V617F突变与单纯红细胞增多症以及AKT和ERK1/2的激活增加相关,而非STAT5。
Leukemia. 2010 May;24(5):1069-73. doi: 10.1038/leu.2010.23. Epub 2010 Feb 25.
2
Development of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F.在表达JAK2 V617F的小鼠中真性红细胞增多症、原发性骨髓纤维化和血小板增多症的发展。
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Phospho-STAT5 and phospho-Akt expression in chronic myeloproliferative neoplasms.慢性骨髓增殖性肿瘤中磷酸化 STAT5 和磷酸化 Akt 的表达。
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Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with JAK2 V617F mutation and provides evidence of in vivo JAK2 activation.非慢性粒细胞白血病慢性骨髓增殖性疾病中骨髓磷酸化信号转导及转录激活因子5(phospho-STAT5)表达与JAK2 V617F突变相关,并为体内JAK2激活提供证据。
Am J Surg Pathol. 2007 Feb;31(2):233-9. doi: 10.1097/01.pas.0000213338.25111.d3.
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Identification of oncostatin M as a JAK2 V617F-dependent amplifier of cytokine production and bone marrow remodeling in myeloproliferative neoplasms.鉴定出孤啡肽作为 JAK2 V617F 依赖性细胞因子产生和骨髓重构的扩增剂在骨髓增殖性肿瘤中的作用。
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A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression.活性氧在 JAK2 V617F 骨髓增殖性肿瘤进展中的作用。
Leukemia. 2013 Nov;27(11):2187-95. doi: 10.1038/leu.2013.102. Epub 2013 Apr 5.
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[The frequency of JAK2 V617F mutation, expression level of phosphorylated JAK/STATs proteins and their clinical significance in myeloproliferative disorders patients].[骨髓增殖性疾病患者中JAK2 V617F突变频率、磷酸化JAK/STATs蛋白表达水平及其临床意义]
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Characterization of murine JAK2V617F-positive myeloproliferative disease.小鼠JAK2V617F阳性骨髓增殖性疾病的特征分析
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Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induces constitutive signaling and growth factor independence.在原发性血小板增多症中未发现与V617F Jak2同源的Tyk2突变,尽管它会诱导组成性信号传导和生长因子非依赖性。
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[Novel method in diagnosis of chronic myeloproliferative disorders--detection of JAK2 mutation].慢性骨髓增殖性疾病诊断的新方法——JAK2 突变检测
Orv Hetil. 2006 Nov 12;147(45):2175-9.

引用本文的文献

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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?胚系 JAK2 E846D 取代是否是红细胞增多症的原因?
Genes (Basel). 2023 May 11;14(5):1066. doi: 10.3390/genes14051066.
2
Case report: Double L611S/V617L mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.病例报告:一名最初诊断为原发性血小板增多症的真性红细胞增多症患者存在双L611S/V617L突变。
Front Oncol. 2022 Nov 22;12:937362. doi: 10.3389/fonc.2022.937362. eCollection 2022.
3
Genetic Background of Polycythemia Vera.真性红细胞增多症的遗传背景。
Genes (Basel). 2022 Apr 2;13(4):637. doi: 10.3390/genes13040637.
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Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis.特发性红细胞增多症相关的骨髓增生异常综合征/急性髓系白血病
Case Rep Hematol. 2018 Feb 22;2018:4378310. doi: 10.1155/2018/4378310. eCollection 2018.
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Germline L611S mutation in a child with thrombocytosis.一名血小板增多症患儿的种系L611S突变
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The Hepatocyte Growth Factor (HGF)/Met Axis: A Neglected Target in the Treatment of Chronic Myeloproliferative Neoplasms?肝细胞生长因子(HGF)/Met 轴:慢性骨髓增殖性肿瘤治疗中的被忽视靶点?
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