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2)James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005; 434: 1144-8
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5)Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007; 356: 459-68
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7)Oh ST, Simonds EF, Jones C, et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 2010; 116: 988-92
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9)Lacout C, Pisani DF, Tulliez M, et al. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood. 2006; 108: 1652-60
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10)Wernig G, Mercher T, Okabe R, et al. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood. 2006; 107: 4274-81
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11)Zaleskas VM, Krause DS, Lazarides K, et al. Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. PLoS ONE. 2006; 1: e18
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14)Xing S, Wanting TH, Zhao W, et al. Transgenic expression of JAK2V617F causes myelopro-liferative disorders in mice. Blood. 2008; 111: 5109-17
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15)Barbui T, Barosi G, Grossi A, et al. Practice guidelines for the therapy of essential thrombocythemia. A statement from the Italian Society of Hematology, the Italian Society of Experimental Hematology and the Italian Group for Bone Marrow Transplantation. Haematologica. 2004; 89: 215-32
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16)De Stefano V, Za T, Rossi E, et al. Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. Annals of Hematology. 2010; 89: 141-6
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17)Scott LM, Scott MA, Campbell PJ, et al. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood. 2006; 108: 2435-7
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18)Akada H, Yan D, Zou H, et al. Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. Blood. 2010; 115: 3589-97
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19)Li J, Spensberger D, Ahn JS, et al. JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Blood. 2010; 116: 1528-38
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20)Marty C, Lacout C, Martin A, et al. Myelo-proliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. Blood. 2010; 116: 783-7
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21)Mullally A, Lane SW, Ball B, et al. Physiological Jak2V617F expression causes a lethal myelo-proliferative neoplasm with differential effects on hematopoietic stem and progenitor cells. Cancer Cell. 2010; 17: 584-96
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22)Skoda RC. JAK2 impairs stem cell function? Blood. 2010; 116: 1392-3
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23)Li J, Kent DG, Chen E, Green AR. Mouse models of myeloproliferative neoplasms: JAK of all grades. Disease Models & Mechanisms. 2011; 4: 311-7
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24)Van Etten RA, Koschmieder S, Delhommeau F, et al. The Ph-positive and Ph-negative myelo-proliferative neoplasms: some topical pre-clinical and clinical issues. Haematologica. 2011; 96: 590-601
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25)Mullally A, Poveromo L, Schneider RK, et al. Distinct roles for long-term hematopoietic stem cells and erythroid precursor cells in a murine model of Jak2V617F-mediated polycythemia vera. Blood. 2012; 120: 166-72
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26)Lundberg P, Kubovcakova L, Takizawa H, et al. JAK2-V617F expressing stem cells display a competitive advantage at low limiting dilution and are capable of initiating MPN phenotype. ASH Annual Meeting Abstracts. 2011; 118: 615
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27)Marty C, Lacout C, Cuingnet M, et al. JAK2V617F promotes stem cell amplification driving MPN clonal dominance in mice and treatment by IFNα prevents this effect. ASH Annual Meeting Abstracts. 2011; 118: 616
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28)Tyner JW, Bumm TG, Deininger J, et al. CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms. Blood. 2010; 115: 5232-40
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29)Wernig G, Kharas MG, Okabe R, et al. Efficacy of TG101348, a selective JAK2 inhibitor, in treat-ment of a murine model of JAK2V617F-induced polycythemia vera. Cancer Cell. 2008; 13: 311-20
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30)Nakaya Y, Shide K, Niwa T, et al. Efficacy of NS-018, a potent and selective JAK2/Src inhibitor, in primary cells and mouse models of myeloproliferative neoplasms. Blood Cancer Journal. 2011; 1: e29
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31)Shide K, Kameda T, Markovtsov V, et al. R723, a selective JAK2 inhibitor, effectively treats JAK2V617F-induced murine myeloproliferative neoplasm. Blood. 2011; 117: 6866-75
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32)Harrison C, Kiladjian J-J, Al-Ali HK, et al. JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. N Engl J Med. 2012; 366: 787-98
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33)Pardanani A, Gotlib JR, Jamieson C, et al. Safety and Efficacy of TG101348, a selective JAK2 inhibitor, in myelofibrosis. J Clin Oncol. 2011; 29: 789-96
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34)Verstovsek S, Mesa RA, Gotlib J, et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. N Engl J Med. 2012; 366: 799-807
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35)Shih AH, Abdel-Wahab O, Patel JP, et al. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012; advance online publication
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36)Vainchenker W, Delhommeau F, Constantinescu SN, et al. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011; 118: 1723-35
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37)Quivoron C, Couronne L, Della Valle V, et al. TET2 inactivation results in pleiotropic hemato-poietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell. 2011; 20: 25-38
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38)Moran-Crusio K, Reavie L, Shih A, et al. Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation. Cancer Cell. 2011; 20: 11-24
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39)Li Z, Cai X, Cai CL, et al. Deletion of Tet2 in mice leads to dysregulated hematopoietic stem cells and subsequent development of myeloid malignancies. Blood. 2011; 118: 4509-18
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40)Ko M, Bandukwala HS, An J, et al. Ten-eleven-translocation 2(TET2) negatively regulates homeostasis and differentiation of hematopoietic stem cells in mice. Proc Natl Acad Sci U S A. 2011; 108: 14566-71
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41)Shide K, Kameda T, Shimoda H, et al. TET2 is essential for survival and hematopoietic stem cell homeostasis. Leukemia. 2012; 26: 2216-23
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42)Kunimoto H, Fukuchi Y, Sakurai M, et al. Tet2 disruption leads to enhanced self-renewal and altered differentiation of fetal liver hematopoietic stem cells. Sci Rep. 2012; 2: 273
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43)Kosmider O, Gelsi-Boyer V, Ciudad M, et al. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica. 2009; 94: 1676-81
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44)Kohlmann A, Grossmann V, Klein HU, et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol. 2010; 28: 3858-65
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45)Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differ-entiation. Cancer Cell. 2010; 18: 553-67
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46)Sasaki M, Knobbe CB, Munger JC, et al. IDH1(R132H) mutation increases murine haema-topoietic progenitors and alters epigenetics. Nature. 2012; advance online publication
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47)Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differ-entiation. Nat Genet. 2012; 44: 23-31
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48)Fisher CL, Pineault N, Brookes C, et al. Loss-of-function additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010; 115: 38-46
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49)Abdel-Wahab O, Adli M, Saunders L, et al. ASXL1 mutations promote myeloid trans-formation through inhibition of PRC2-mediated gene repression. ASH Annual Meeting Abstracts. 2011; 118: 405
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50)Su Ih, Basavaraj A, Krutchinsky AN, et al. Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement. Nat Immunol. 2003; 4: 124-31
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51)Mochizuki-Kashio M, Mishima Y, Miyagi S, et al. Dependency on the polycomb gene Ezh2 distinguishes fetal from adult hematopoietic stem cells. Blood. 2011; 118: 6553-61
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