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

Author

Listed:
  • Chloé James

    (Paris XI University)

  • Valérie Ugo

    (Paris XI University
    CHU Brest
    Hôtel Dieu, AP-HP)

  • Jean-Pierre Le Couédic

    (Paris XI University)

  • Judith Staerk

    (Université Catholique de Louvain)

  • François Delhommeau

    (Paris XI University
    Hôtel Dieu, AP-HP)

  • Catherine Lacout

    (Paris XI University)

  • Loïc Garçon

    (Paris XI University)

  • Hana Raslova

    (Paris XI University)

  • Roland Berger

    (Hôpital Necker)

  • Annelise Bennaceur-Griscelli

    (Paris XI University
    Institut Gustave Roussy)

  • Jean Luc Villeval

    (Paris XI University)

  • Stefan N. Constantinescu

    (Université Catholique de Louvain)

  • Nicole Casadevall

    (Paris XI University
    Hôtel Dieu, AP-HP)

  • William Vainchenker

    (Paris XI University
    Hôpital Saint Louis, AP-HP)

Abstract

Polycythaemia vera The basis of the bone marrow abnormality in polycythaemia vera, a blood disorder often linked to leukaemia, has finally been identified. Over 80% of patients have a mutation in the JAK2 enzyme; this normally stimulates red blood cell production when needed, after blood loss for example. The mutant enzyme is permanently in the ‘on’ position. The JAK2 mutation was also found in several other myeloproliferative disorders. With JAK2 as a possible target, it may be possible to develop targeted therapies similar to Glivec, now used to treat chronic myeloid leukaemia.

Suggested Citation

  • Chloé James & Valérie Ugo & Jean-Pierre Le Couédic & Judith Staerk & François Delhommeau & Catherine Lacout & Loïc Garçon & Hana Raslova & Roland Berger & Annelise Bennaceur-Griscelli & Jean Luc Ville, 2005. "A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera," Nature, Nature, vol. 434(7037), pages 1144-1148, April.
    • Handle: RePEc:nat:nature:v:434:y:2005:i:7037:d:10.1038_nature03546
    DOI: 10.1038/nature03546
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    Citations

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    Cited by:

    1. Rida Al-Rifai & Marie Vandestienne & Jean-Rémi Lavillegrand & Tristan Mirault & Julie Cornebise & Johanne Poisson & Ludivine Laurans & Bruno Esposito & Chloé James & Olivier Mansier & Pierre Hirsch & , 2022. "JAK2V617F mutation drives vascular resident macrophages toward a pathogenic phenotype and promotes dissecting aortic aneurysm," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    2. Zijian Fang & Giuditta Corbizi Fattori & Thomas McKerrell & Rebecca H. Boucher & Aimee Jackson & Rachel S. Fletcher & Dorian Forte & Jose-Ezequiel Martin & Sonia Fox & James Roberts & Rachel Glover & , 2023. "Tamoxifen for the treatment of myeloproliferative neoplasms: A Phase II clinical trial and exploratory analysis," Nature Communications, Nature, vol. 14(1), pages 1-21, December.
    3. Hidehiro Itonaga & Adnan K. Mookhtiar & Sarah M. Greenblatt & Fan Liu & Concepcion Martinez & Daniel Bilbao & Masai Rains & Pierre-Jacques Hamard & Jun Sun & Afoma C. Umeano & Stephanie Duffort & Chua, 2024. "Tyrosine phosphorylation of CARM1 promotes its enzymatic activity and alters its target specificity," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
    4. Diana Saleiro & Jeremy Q. Wen & Ewa M. Kosciuczuk & Frank Eckerdt & Elspeth M. Beauchamp & Chidera V. Oku & Gavin T. Blyth & Mariafausta Fischietti & Liliana Ilut & Marco Colamonici & William Palivos , 2022. "Discovery of a signaling feedback circuit that defines interferon responses in myeloproliferative neoplasms," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
    5. Remo Monti & Pia Rautenstrauch & Mahsa Ghanbari & Alva Rani James & Matthias Kirchler & Uwe Ohler & Stefan Konigorski & Christoph Lippert, 2022. "Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    6. Yusuke Kimishima & Tomofumi Misaka & Tetsuro Yokokawa & Kento Wada & Koki Ueda & Koichi Sugimoto & Keiji Minakawa & Kazuhiko Nakazato & Takafumi Ishida & Motohiko Oshima & Shuhei Koide & Kotaro Shide , 2021. "Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension with ALK1 upregulation in lung neutrophils," Nature Communications, Nature, vol. 12(1), pages 1-18, December.

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