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A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

Bibliographic reference James, C. ; Ugo, V ; Le Couedic, JP ; Staerk, Judith ; Delhommeau, F. ; et. al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. In: Nature : international weekly journal of science, Vol. 434, no. 7037, p. 1144-1148 (2005)
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  1. Spivak Jerry L, The chronic myeloproliferative disorders: Clonality and clinical heterogeneity, 10.1053/j.seminhematol.2004.02.011
  2. Prchal Josef T, Polycythemia vera and other primary polycythemias : , 10.1097/01.moh.0000154029.05396.d2
  3. Spivak J. L., Polycythemia vera: myths, mechanisms, and management, 10.1182/blood-2001-12-0349
  4. Prchal J. F., N. Engl. J. Med., 290, 1382 (1974)
  5. Casadevall N., Blood, 59, 447 (1982)
  6. Ugo V, Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera, 10.1016/j.exphem.2003.11.003
  7. Witthuhn Bruce A., Quelle Frederick W., Silvennoinen Olli, Yi Taolin, Tang Bo, Miura Osamu, Ihle James N., JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin, 10.1016/0092-8674(93)90414-l
  8. Bernabei P., J. Leukoc. Biol., 70, 950 (2001)
  9. Kralovics R, Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera, 10.1016/s0301-472x(01)00789-5
  10. Najfeld Vesna, Montella Lya, Scalise Angela, Fruchtman Steven, Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected*, 10.1046/j.1365-2141.2002.03763.x
  11. Kralovics R., Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease, 10.1182/blood-2003-03-0885
  12. Saharinen P., Takaluoma K., Silvennoinen O., Regulation of the Jak2 Tyrosine Kinase by Its Pseudokinase Domain, 10.1128/mcb.20.10.3387-3395.2000
  13. Saharinen P., Autoinhibition of Jak2 Tyrosine Kinase Is Dependent on Specific Regions in Its Pseudokinase Domain, 10.1091/mbc.e02-06-0342
  14. Lindauer K., Protein Eng., 14, 27 (2001)
  15. Argetsinger L. S., Kouadio J.-L. K., Steen H., Stensballe A., Jensen O. N., Carter-Su C., Autophosphorylation of JAK2 on Tyrosines 221 and 570 Regulates Its Activity, 10.1128/mcb.24.11.4955-4967.2004
  16. Feener E. P., Rosario F., Dunn S. L., Stancheva Z., Myers M. G., Tyrosine Phosphorylation of Jak2 in the JH2 Domain Inhibits Cytokine Signaling, 10.1128/mcb.24.11.4968-4978.2004
  17. Luo H, Rose P, Barber D, Hanratty W P, Lee S, Roberts T M, D'Andrea A D, Dearolf C R, Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways., 10.1128/mcb.17.3.1562
  18. Kohlhuber F, Rogers N C, Watling D, Feng J, Guschin D, Briscoe J, Witthuhn B A, Kotenko S V, Pestka S, Stark G R, Ihle J N, Kerr I M, A JAK1/JAK2 chimera can sustain alpha and gamma interferon responses., 10.1128/mcb.17.2.695
  19. Lacronique V., A TEL-JAK2 Fusion Protein with Constitutive Kinase Activity in Human Leukemia, 10.1126/science.278.5341.1309
  20. Huang Lily Jun-shen, Constantinescu Stefan N., Lodish Harvey F., The N-Terminal Domain of Janus Kinase 2 Is Required for Golgi Processing and Cell Surface Expression of Erythropoietin Receptor, 10.1016/s1097-2765(01)00401-4
  21. Zhao S., JAK2, complemented by a second signal from c-kit or flt-3, triggers extensive self-renewal of primary multipotential hemopoietic cells, 10.1093/emboj/21.9.2159
  22. Pearson T. C., Leuk. Lymphoma, 22, 87 (1996)
  23. Cools J., Peeters P., Voet T., Aventin A., Mecucci C., Grandchamp B., Marynen P., Genomic organization of human JAK2 and mutation analysis of its JH2-domain in leukemia, 10.1159/000015308
  24. Le Coniat M., Genes Chromosom. Cancer, 14, 204 (1995)
  25. Dumoutier L., Van Roost E., Colau D., Renauld J.-C., Human interleukin-10-related T cell-derived inducible factor: Molecular cloning and functional characterization as an hepatocyte-stimulating factor, 10.1073/pnas.170291697
  26. Chagraoui H., Tulliez M., Smayra T., Komura E., Giraudier S., Yun T., Lassau N., Vainchenker W., Wendling F., Stimulation of osteoprotegerin production is responsible for osteosclerosis in mice overexpressing TPO, 10.1182/blood-2002-09-2839
  27. Dorsch M., Blood, 100, 2046 (2002)