-
1
-
-
25844453885
-
Lessons from familial myeloproliferative disorders
-
Skoda R, Prchal JT. Lessons from familial myeloproliferative disorders. Semin Hematol. 2005;42(4):266-73.
-
(2005)
Semin Hematol
, vol.42
, Issue.4
, pp. 266-273
-
-
Skoda, R.1
Prchal, J.T.2
-
3
-
-
0022217637
-
Autosomal dominant polycythemia
-
Prchal JT, Crist WM, Goldwasser E, Perrine G, Prchal JF. Autosomal dominant polycythemia. Blood. 1985;66(5):1208-14.
-
(1985)
Blood
, vol.66
, Issue.5
, pp. 1208-1214
-
-
Prchal, J.T.1
Crist, W.M.2
Goldwasser, E.3
Perrine, G.4
Prchal, J.F.5
-
4
-
-
0027215519
-
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
-
de la Chapelle A, Träskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA. 1993;90(10):4495-9.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, Issue.10
, pp. 4495-4499
-
-
de la Chapelle, A.1
Träskelin, A.L.2
Juvonen, E.3
-
5
-
-
14644441737
-
Polycythemia vera and other primary polycythemias
-
Prchal JT. Polycythemia vera and other primary polycythemias. Curr Opin Hematol. 2005;12(2):112-6.
-
(2005)
Curr Opin Hematol
, vol.12
, Issue.2
, pp. 112-116
-
-
Prchal, J.T.1
-
6
-
-
18744373593
-
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
-
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet. 2002;32(4):614-21.
-
(2002)
Nat Genet
, vol.32
, Issue.4
, pp. 614-621
-
-
Ang, S.O.1
Chen, H.2
Hirota, K.3
Gordeuk, V.R.4
Jelinek, J.5
Guan, Y.6
-
7
-
-
70349237414
-
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis
-
Semenza GL. Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. Blood. 2009;114(10):2015-9.
-
(2009)
Blood
, vol.114
, Issue.10
, pp. 2015-2019
-
-
Semenza, G.L.1
-
8
-
-
0031975482
-
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia
-
Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nature Genet. 1998;18(1):49-52.
-
(1998)
Nature Genet
, vol.18
, Issue.1
, pp. 49-52
-
-
Wiestner, A.1
Schlemper, R.J.2
van der Maas, A.P.3
Skoda, R.C.4
-
9
-
-
0034210637
-
Translational pathophysiology: A novel molecular mechanism of human disease
-
Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood. 2000;95(11):3280-8.
-
(2000)
Blood
, vol.95
, Issue.11
, pp. 3280-3288
-
-
Cazzola, M.1
Skoda, R.C.2
-
10
-
-
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, Kato-Uranishi M, Ito M, Satoh 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):4198-200.
-
(2004)
Blood
, vol.103
, Issue.11
, pp. 4198-4200
-
-
Ding, J.1
Komatsu, H.2
Wakita, A.3
Kato-Uranishi, M.4
Ito, M.5
Satoh, A.6
-
11
-
-
0029794142
-
Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer
-
Onishi M, Mui AL, Morikawa Y, Cho L, Kinoshita S, Nolan GP, et al. Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer. Blood. 1996;88(4):1399-406.
-
(1996)
Blood
, vol.88
, Issue.4
, pp. 1399-1406
-
-
Onishi, M.1
Mui, A.L.2
Morikawa, Y.3
Cho, L.4
Kinoshita, S.5
Nolan, G.P.6
-
12
-
-
47249092413
-
MPL mutations in myeloproliferative disorders: Analysis of the PT-1 cohort
-
Beer PA, Campbell PJ, Scott LM, Bench AJ, Erber WN, Bareford D, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008;112(1):141-9.
-
(2008)
Blood
, vol.112
, Issue.1
, pp. 141-149
-
-
Beer, P.A.1
Campbell, P.J.2
Scott, L.M.3
Bench, A.J.4
Erber, W.N.5
Bareford, D.6
-
13
-
-
27244450853
-
The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera
-
Cario H, Goerttler PS, Steimle C, Levine RL, Pahl HL. The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br J Haematol. 2005;130(5):800-1.
-
(2005)
Br J Haematol
, vol.130
, Issue.5
, pp. 800-801
-
-
Cario, H.1
Goerttler, P.S.2
Steimle, C.3
Levine, R.L.4
Pahl, H.L.5
-
14
-
-
33745623666
-
Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
-
Bellanne-Chantelot C, Chaumarel I, Labopin M, Bellanger F, Barbu V, De Toma C, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108(1):346-52.
-
(2006)
Blood
, vol.108
, Issue.1
, pp. 346-352
-
-
Bellanne-Chantelot, C.1
Chaumarel, I.2
Labopin, M.3
Bellanger, F.4
Barbu, V.5
De Toma, C.6
-
15
-
-
66249137734
-
Mutation in TET2 in myeloid cancers
-
Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-301.
-
(2009)
N Engl J Med
, vol.360
, Issue.22
, pp. 2289-2301
-
-
Delhommeau, F.1
Dupont, S.2
Della Valle, V.3
James, C.4
Trannoy, S.5
Masse, A.6
-
16
-
-
67649876132
-
Acquired mutations in TET2 are common in myelodysplastic syndromes
-
Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009;41(7):838-42.
-
(2009)
Nat Genet
, vol.41
, Issue.7
, pp. 838-842
-
-
Langemeijer, S.M.1
Kuiper, R.P.2
Berends, M.3
Knops, R.4
Aslanyan, M.G.5
Massop, M.6
-
17
-
-
70149101696
-
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms
-
Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, et al. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood. 2009;114(8):1628-32.
-
(2009)
Blood
, vol.114
, Issue.8
, pp. 1628-1632
-
-
Saint-Martin, C.1
Leroy, G.2
Delhommeau, F.3
Panelatti, G.4
Dupont, S.5
James, C.6
-
18
-
-
33646466489
-
Vascular complications in Chuvash polycythemia
-
Gordeuk VR, Prchal JT. Vascular complications in Chuvash polycythemia. Semin Thromb Hemost. 2006;32(3):289-94.
-
(2006)
Semin Thromb Hemost
, vol.32
, Issue.3
, pp. 289-294
-
-
Gordeuk, V.R.1
Prchal, J.T.2
-
19
-
-
34047236618
-
Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia
-
Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, et al. Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol. 2007;25(9):1048-53.
-
(2007)
J Clin Oncol
, vol.25
, Issue.9
, pp. 1048-1053
-
-
Teofili, L.1
Giona, F.2
Martini, M.3
Cenci, T.4
Guidi, F.5
Torti, L.6
-
20
-
-
70349642841
-
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia
-
Liu K, Martini M, Rocca B, Amos CI, Teofili L, Giona F, et al. Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. Haematologica. 2009;94(10):1368-74.
-
(2009)
Haematologica
, vol.94
, Issue.10
, pp. 1368-1374
-
-
Liu, K.1
Martini, M.2
Rocca, B.3
Amos, C.I.4
Teofili, L.5
Giona, F.6
-
21
-
-
73949105527
-
Ser505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis
-
Ser505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. Haematologica. 2009;95(1):57-64.
-
(2009)
Haematologica
, vol.95
, Issue.1
, pp. 57-64
-
-
Teofili, L.1
Giona, F.2
Torti, L.3
Cenci, T.4
Ricerca, B.M.5
Rumi, C.6
-
22
-
-
43449085540
-
A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family
-
Liu K, Kralovics R, Rudzki Z, Grabowska B, Buser AS, Olcaydu D, et al. A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family. Haematologica. 2008;93(5):706-14.
-
(2008)
Haematologica
, vol.93
, Issue.5
, pp. 706-714
-
-
Liu, K.1
Kralovics, R.2
Rudzki, Z.3
Grabowska, B.4
Buser, A.S.5
Olcaydu, D.6
-
23
-
-
33746437130
-
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia
-
Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, 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
-
-
Pikman, Y.1
Lee, B.H.2
Mercher, T.3
McDowell, E.4
Ebert, B.L.5
Gozo, M.6
-
24
-
-
33750534561
-
MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients
-
Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006;108(10):3472-6.
-
(2006)
Blood
, vol.108
, Issue.10
, pp. 3472-3476
-
-
Pardanani, A.D.1
Levine, R.L.2
Lasho, T.3
Pikman, Y.4
Mesa, R.A.5
Wadleigh, M.6
-
25
-
-
50949127379
-
Characteristics and clinical correlates of MPL 515W〉L/K mutation in essential thrombocythemia
-
Vannucchi AM, Antonioli E, Guglielmelli P, Pancrazzi A, Guerini V, Barosi G, et al. Characteristics and clinical correlates of MPL 515W〉L/K mutation in essential thrombocythemia. Blood. 2008;112(3):844-7.
-
(2008)
Blood
, vol.112
, Issue.3
, pp. 844-847
-
-
Vannucchi, A.M.1
Antonioli, E.2
Guglielmelli, P.3
Pancrazzi, A.4
Guerini, V.5
Barosi, G.6
-
26
-
-
70349975711
-
JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin
-
Dawson MA, Bannister AJ, Gottgens B, Foster SD, Bartke T, Green AR, et al. JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin. Nature. 2009;461(7265):819-22.
-
(2009)
Nature
, vol.461
, Issue.7265
, pp. 819-822
-
-
Dawson, M.A.1
Bannister, A.J.2
Gottgens, B.3
Foster, S.D.4
Bartke, T.5
Green, A.R.6
-
27
-
-
3843052277
-
Mpl Baltimore: A thrombopoietin receptor polymorphism associated with thrombocytosis
-
Moliterno AR, Williams DM, Gutierrez-Alamillo LI, Salvatori R, Ingersoll RG, Spivak JL. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. Proc Natl Acad Sci USA. 2004;101(31):11444-7.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, Issue.31
, pp. 11444-11447
-
-
Moliterno, A.R.1
Williams, D.M.2
Gutierrez-Alamillo, L.I.3
Salvatori, R.4
Ingersoll, R.G.5
Spivak, J.L.6
-
28
-
-
58149084511
-
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene
-
El-Harith HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, et al. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 2009;144(2):185-94.
-
(2009)
Br J Haematol
, vol.144
, Issue.2
, pp. 185-194
-
-
El-Harith, H.A.1
Roesl, C.2
Ballmaier, M.3
Germeshausen, M.4
Frye-Boukhriss, H.5
von Neuhoff, N.6
|