Disordered Epigenetic Regulation in the Pathophysiology of Myeloproliferative Neoplasms
Disordered Epigenetic Regulation in the Pathophysiology of Myeloproliferative Neoplasms
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骨髓增生性肿瘤病理生理学中表观遗传调控紊乱
DOI：
10.1007/s11899-011-0105-y
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发表时间：
2012-03
影响因子：
2.9
通讯作者：
Abdel-Wahab, Omar
中科院分区：
文献类型：
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作者：
Zhang, Su-Jiang;Abdel-Wahab, Omar
在大多数骨髓增生性肿瘤（MPN）患者中发现激活JAK-STAT信号的突变，从而确定酪氨酸激酶激活是驱动MPN发病的共同主要机制。然而，怀疑存在其他修饰MPN表型的遗传事件，预先的ejak2突变，或有助于MPN的白血病转化。基因组技术的最新进展导致在mpn患者中发现了许多表观遗传修饰因子的突变，包括突变inTET2，ASXL1,IDH1，IDH2和dezh2。除了突变外，染色质修饰/读取蛋白PRMT5和L3MBTL1的表达或活性的改变在MPN的发展中也很重要。此外，jak2突变本身最近被证明直接影响组蛋白翻译后修饰。本文综述了表观遗传改变在MPNs发病机制中的临床和功能意义。
The discovery of mutations activating JAK-STAT signaling in the majority of patients with myeloproliferative neoplasms (MPNs) led to identification of tyrosine kinase activation as the common predominant mechanism driving MPN pathogenesis. Nevertheless, the existence of additional genetic events that modify the MPN phenotype, predateJAK2mutations, or contribute to leukemic transformation of MPNs was suspected. Recent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations inTET2,ASXL1,IDH1,IDH2, andEZH2. In addition to mutation, alterations in the expression or activity of chromatin-modifying/reading proteins PRMT5 and L3MBTL1 have been found to be important in MPN development. Moreover, theJAK2mutation itself recently has been shown to directly affect histone post-translational modifications. This article reviews the clinical and functional implications of epigenetic alterations in the pathogenesis of MPNs.
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DOI：
10.1056/nejmoa065202
发表时间：
2007-02-01
期刊：
The New England journal of medicine
影响因子：
--
作者：
Scott LM;Tong W;Levine RL;Scott MA;Beer PA;Stratton MR;Futreal PA;Erber WN;McMullin MF;Harrison CN;Warren AJ;Gilliland DG;Lodish HF;Green AR
通讯作者：
Green AR
影响因子：
11.2
作者：
Abdel-Wahab O;Manshouri T;Patel J;Harris K;Yao J;Hedvat C;Heguy A;Bueso-Ramos C;Kantarjian H;Levine RL;Verstovsek S
通讯作者：
Verstovsek S
影响因子：
15.8
作者：
Pikman, Yana;Lee, Benjamin H.;Mercher, Thomas;McDowell, Elizabeth;Ebert, Benjamin L.;Gozo, Maricel;Cuker, Adam;Wernig, Gerlinde;Moore, Sandra;Galinsky, Ilene;DeAngelo, Daniel J.;Clark, Jennifer J.;Lee, Stephanie J.;Golub, Todd R.;Wadleigh, Martha;Gilliland, D. Gary;Levine, Ross L.
通讯作者：
Levine, Ross L.
影响因子：
50.3
作者：
Xu W;Yang H;Liu Y;Yang Y;Wang P;Kim SH;Ito S;Yang C;Wang P;Xiao MT;Liu LX;Jiang WQ;Liu J;Zhang JY;Wang B;Frye S;Zhang Y;Xu YH;Lei QY;Guan KL;Zhao SM;Xiong Y
通讯作者：
Xiong Y
影响因子：
11.4
作者：
通讯作者：
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