-
1
-
-
20144363192
-
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
-
Cancer Genome Project
-
Baxter EJ, Scott LM, Campbell PJ, et al; Cancer Genome Project Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-1061.
-
(2005)
Lancet
, vol.365
, Issue.9464
, pp. 1054-1061
-
-
Baxter, E.J.1
Scott, L.M.2
Campbell, P.J.3
-
2
-
-
17844383458
-
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
-
James C, Ugo V, Le Coúedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144-1148.
-
(2005)
Nature
, vol.434
, Issue.7037
, pp. 1144-1148
-
-
James, C.1
Ugo, V.2
Le Coúedic, J.P.3
-
3
-
-
17644424955
-
A gain-of-function mutation of JAK2 in myeloproliferative disorders
-
Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790.
-
(2005)
N Engl J Med
, vol.352
, Issue.17
, pp. 1779-1790
-
-
Kralovics, R.1
Passamonti, F.2
Buser, A.S.3
-
4
-
-
20244369569
-
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
-
Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-397.
-
(2005)
Cancer Cell
, vol.7
, Issue.4
, pp. 387-397
-
-
Levine, R.L.1
Wadleigh, M.2
Cools, J.3
-
5
-
-
84897903692
-
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis
-
Etheridge SL, Cosgrove ME, Sangkhae V, et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood. 2014;123(7):1059-1068.
-
(2014)
Blood
, vol.123
, Issue.7
, pp. 1059-1068
-
-
Etheridge, S.L.1
Cosgrove, M.E.2
Sangkhae, V.3
-
6
-
-
84857863366
-
Germline JAK2 mutation in a family with hereditary thrombocytosis
-
Mead AJ, Rugless MJ, Jacobsen SE, Schuh A. Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012; 366(10):967-969.
-
(2012)
N Engl J Med
, vol.366
, Issue.10
, pp. 967-969
-
-
Mead, A.J.1
Rugless, M.J.2
Jacobsen, S.E.3
Schuh, A.4
-
7
-
-
84892865886
-
A novel germline JAK2 mutation in familial myeloproliferative neoplasms
-
Rumi E, Harutyunyan AS, Casetti I, et al. A novel germline JAK2 mutation in familial myeloproliferative neoplasms. Am J Hematol. 2014;89(1):117-118.
-
(2014)
Am J Hematol
, vol.89
, Issue.1
, pp. 117-118
-
-
Rumi, E.1
Harutyunyan, A.S.2
Casetti, I.3
-
8
-
-
84890372480
-
Somatic mutations of calreticulin in myeloproliferative neoplasms
-
Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379-2390.
-
(2013)
N Engl J Med
, vol.369
, Issue.25
, pp. 2379-2390
-
-
Klampfl, T.1
Gisslinger, H.2
Harutyunyan, A.S.3
-
9
-
-
84890328032
-
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2
-
Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013; 369(25):2391-2405.
-
(2013)
N Engl J Med
, vol.369
, Issue.25
, pp. 2391-2405
-
-
Nangalia, J.1
Massie, C.E.2
Baxter, E.J.3
-
10
-
-
33746437130
-
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia
-
Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270.
-
(2006)
PLoS Med
, vol.3
, Issue.7
, pp. e270
-
-
Pikman, Y.1
Lee, B.H.2
Mercher, T.3
-
11
-
-
33750534561
-
MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients
-
Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients. Blood. 2006; 108(10):3472-3476.
-
(2006)
Blood
, vol.108
, Issue.10
, pp. 3472-3476
-
-
Pardanani, A.D.1
Levine, R.L.2
Lasho, T.3
-
12
-
-
47249092413
-
MPL mutations in myeloproliferative disorders: Analysis of the PT-1 cohort
-
Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: Analysis of the PT-1 cohort. Blood. 2008;112(1):141-149.
-
(2008)
Blood
, vol.112
, Issue.1
, pp. 141-149
-
-
Beer, P.A.1
Campbell, P.J.2
Scott, L.M.3
-
13
-
-
33344455687
-
An amphipathic motif at the transmembranecytoplasmic junction prevents autonomous activation of the thrombopoietin receptor
-
Staerk J, Lacout C, Sato T, Smith SO, Vainchenker W, Constantinescu SN. An amphipathic motif at the transmembranecytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood. 2006;107(5):1864-1871.
-
(2006)
Blood
, vol.107
, Issue.5
, pp. 1864-1871
-
-
Staerk, J.1
Lacout, C.2
Sato, T.3
Smith, S.O.4
Vainchenker, W.5
Constantinescu, S.N.6
-
14
-
-
2542502506
-
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin
-
Ding J, Komatsu H, Wakita A, et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood. 2004;103(11):4198-4200.
-
(2004)
Blood
, vol.103
, Issue.11
, pp. 4198-4200
-
-
Ding, J.1
Komatsu, H.2
Wakita, A.3
-
15
-
-
76549109434
-
Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias
-
Abdel-Wahab O, Manshouri T, Patel J, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010;70(2):447-452.
-
(2011)
Cancer Res
, vol.70
, Issue.2
, pp. 447-452
-
-
Abdel-Wahab, O.1
Manshouri, T.2
Patel, J.3
-
16
-
-
66249137734
-
Mutation in TET2 in myeloid cancers
-
Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
-
(2009)
N Engl J Med
, vol.360
, Issue.22
, pp. 2289-2301
-
-
Delhommeau, F.1
Dupont, S.2
Della Valle, V.3
-
17
-
-
67650401377
-
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
-
Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood. 2009;113(24):6182-6192.
-
(2009)
Blood
, vol.113
, Issue.24
, pp. 6182-6192
-
-
Grand, F.H.1
Hidalgo-Curtis, C.E.2
Ernst, T.3
-
18
-
-
84861082246
-
Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome
-
Zhang SJ, Rampal R, Manshouri T, et al. Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. Blood. 2012;119(19): 4480-4485.
-
(2012)
Blood
, vol.119
, Issue.19
, pp. 4480-4485
-
-
Zhang, S.J.1
Rampal, R.2
Manshouri, T.3
-
20
-
-
70349256226
-
The 2008 revision of the World Health Organization WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes
-
Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
-
(2009)
Blood
, vol.114
, Issue.5
, pp. 937-951
-
-
Vardiman, J.W.1
Thiele, J.2
Arber, D.A.3
-
21
-
-
84867909136
-
Clinical significance of genetic aberrations in secondary acute myeloid leukemia
-
Milosevic JD, Puda A, Malcovati L, et al. Clinical significance of genetic aberrations in secondary acute myeloid leukemia. Am J Hematol. 2012; 87(11):1010-1016.
-
(2012)
Am J Hematol
, vol.87
, Issue.11
, pp. 1010-1016
-
-
Milosevic, J.D.1
Puda, A.2
Malcovati, L.3
-
22
-
-
70449486011
-
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis
-
Malcovati L, Della Porta MG, Pietra D, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009;114(17): 3538-3545.
-
(2009)
Blood
, vol.114
, Issue.17
, pp. 3538-3545
-
-
Malcovati, L.1
Della Porta, M.G.2
Pietra, D.3
-
23
-
-
84873726286
-
Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation
-
Defour JP, Itaya M, Gryshkova V, et al. Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation. Proc Natl Acad Sci USA. 2013;110(7):2540-2545.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, Issue.7
, pp. 2540-2545
-
-
Defour, J.P.1
Itaya, M.2
Gryshkova, V.3
-
24
-
-
53749102829
-
Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray
-
Kawamata N, Ogawa S, Yamamoto G, et al. Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray. Exp Hematol. 2008;36(11): 1471-1479.
-
(2008)
Exp Hematol
, vol.36
, Issue.11
, pp. 1471-1479
-
-
Kawamata, N.1
Ogawa, S.2
Yamamoto, G.3
-
25
-
-
35448963775
-
Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis
-
Williams DM, Kim AH, Rogers O, Spivak JL, Moliterno AR. Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol. 2007;35(11):1641-1646.
-
(2007)
Exp Hematol
, vol.35
, Issue.11
, pp. 1641-1646
-
-
Williams, D.M.1
Kim, A.H.2
Rogers, O.3
Spivak, J.L.4
Moliterno, A.R.5
-
26
-
-
55249126914
-
YRRL motifs in the cytoplasmic domain of the thrombopoietin receptor regulate receptor internalization and degradation
-
Hitchcock IS, Chen MM, King JR, Kaushansky K. YRRL motifs in the cytoplasmic domain of the thrombopoietin receptor regulate receptor internalization and degradation. Blood. 2008; 112(6):2222-2231.
-
(2008)
Blood
, vol.112
, Issue.6
, pp. 2222-2231
-
-
Hitchcock, I.S.1
Chen, M.M.2
King, J.R.3
Kaushansky, K.4
-
27
-
-
84866620565
-
Role of germline genetic factors in MPN pathogenesis
-
Harutyunyan AS, Kralovics R. Role of germline genetic factors in MPN pathogenesis. Hematol Oncol Clin North Am. 2012;26(5):1037-1051.
-
(2012)
Hematol Oncol Clin North Am
, vol.26
, Issue.5
, pp. 1037-1051
-
-
Harutyunyan, A.S.1
Kralovics, R.2
-
28
-
-
84862808429
-
A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia
-
Lambert MP, Jiang J, Batra V, Wu C, Tong W. A novel mutation in MPL (Y252H) results in increased thrombopoietin sensitivity in essential thrombocythemia. Am J Hematol. 2012;87(5): 532-534.
-
(2012)
Am J Hematol
, vol.87
, Issue.5
, pp. 532-534
-
-
Lambert, M.P.1
Jiang, J.2
Batra, V.3
Wu, C.4
Tong, W.5
-
29
-
-
58149084511
-
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene
-
El-Harith HA, Roesl C, Ballmaier M, et al. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 2009;144(2):185-194.
-
(2009)
Br J Haematol
, vol.144
, Issue.2
, pp. 185-194
-
-
El-Harith, H.A.1
Roesl, C.2
Ballmaier, M.3
-
30
-
-
10744223059
-
Structure of the receptor-binding domain of human thrombopoietin determined by complexation with a neutralizing antibody fragment
-
Feese MD, Tamada T, Kato Y, et al. Structure of the receptor-binding domain of human thrombopoietin determined by complexation with a neutralizing antibody fragment. Proc Natl Acad Sci USA. 2004;101(7):1816-1821.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, Issue.7
, pp. 1816-1821
-
-
Feese, M.D.1
Tamada, T.2
Kato, Y.3
-
31
-
-
77956210088
-
Identification of the residues in the extracellular domain of thrombopoietin receptor involved in the binding of thrombopoietin and a nuclear distribution protein (human NUDC
-
Chen WM, Yu B, Zhang Q, Xu P. Identification of the residues in the extracellular domain of thrombopoietin receptor involved in the binding of thrombopoietin and a nuclear distribution protein (human NUDC). J Biol Chem. 2010;285(34): 26697-26709.
-
(2011)
J Biol Chem
, vol.285
, Issue.34
, pp. 26697-26709
-
-
Chen, W.M.1
Yu, B.2
Zhang, Q.3
Xu, P.4
-
32
-
-
84904042955
-
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: Clinical, cytogenetic and molecular comparisons
-
Tefferi A, Lasho TL, Finke CM, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014;28(7):1472-1477.
-
(2014)
Leukemia
, vol.28
, Issue.7
, pp. 1472-1477
-
-
Tefferi, A.1
Lasho, T.L.2
Finke, C.M.3
-
33
-
-
84976223298
-
Familiar JAK2 G571S variant not linked with essential trombocythemia [abstract]
-
Panovska-Stavridis I, Eftimov A, Pivkova-Veljanovska A, Ivanovski M, Cevreska L, Dimovski AJ. Familiar JAK2 G571S variant not linked with essential trombocythemia [abstract]. Blood. 2014;124(21):5585.
-
(2014)
Blood
, vol.124
, Issue.21
, pp. 5585
-
-
Panovska-Stavridis, I.1
Eftimov, A.2
Pivkova-Veljanovska, A.3
Ivanovski, M.4
Cevreska, L.5
Dimovski, A.J.6
-
34
-
-
84958183203
-
Genomic profile of patients with triple negative (JAK2, CALR and MPL) essential thrombocythemia and primary myelofibrosis [abstract]
-
Abstract 4589
-
Campregher PV, Helman R, Pereira WO, et al. Genomic profile of patients with triple negative (JAK2, CALR and MPL) essential thrombocythemia and primary myelofibrosis [abstract]. Blood. 2014;124(21). Abstract 4589.
-
(2014)
Blood
, vol.124
, pp. 21
-
-
Campregher, P.V.1
Helman, R.2
Pereira, W.O.3
-
35
-
-
84958161573
-
Mutational profile in essential thrombocytemia (Et)negative for Jak2 and Mpl [abstract]
-
Abstract 1328
-
Cabagnols X, Ianotto JC, Bluteau O, et al. Mutational profile in essential thrombocytemia (Et) "negative" for Jak2 and Mpl [abstract]. Haematologica. 2014;99(6)(suppl 1):515. Abstract 1328.
-
(2014)
Haematologica
, vol.99
, Issue.6
, pp. 515
-
-
Cabagnols, X.1
Ianotto, J.C.2
Bluteau, O.3
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