A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis
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Title
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis
Authors
Keywords
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Journal
BLOOD
Volume 123, Issue 7, Pages 1059-1068
Publisher
American Society of Hematology
Online
2014-01-01
DOI
10.1182/blood-2012-12-473777
References
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Related references
Note: Only part of the references are listed.- Impact of isolated germline JAK2V617I mutation on human hematopoiesis
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- (2012) A. L. Godfrey et al. BLOOD
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- (2012) Priya Koppikar et al. NATURE
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- (2012) Rajintha M Bandaranayake et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
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- (2012) Mark D. Carlson NEW ENGLAND JOURNAL OF MEDICINE
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- (2011) Wanlong Ma et al. DIAGNOSTIC MOLECULAR PATHOLOGY
- Phosphorylation of p27Kip1 by JAK2 directly links cytokine receptor signaling to cell cycle control
- (2011) H Jäkel et al. ONCOGENE
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- (2010) F. X. Schaub et al. BLOOD
- Preclinical characterization of the selective JAK1/2 inhibitor INCB018424: therapeutic implications for the treatment of myeloproliferative neoplasms
- (2010) A. Quintas-Cardama et al. BLOOD
- JAK2V617F and beyond: role of genetics and aberrant signaling in the pathogenesis of myeloproliferative neoplasms
- (2010) Stephen T Oh et al. Expert Review of Hematology
- p27 deregulation by Skp2 overexpression induced by the JAK2V617 mutation
- (2009) A. Furuhata et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis
- (2009) L. Teofili et al. HAEMATOLOGICA
- A JAK2 Interdomain Linker Relays Epo Receptor Engagement Signals to Kinase Activation
- (2009) Lequn Zhao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Acquired mutations in TET2 are common in myelodysplastic syndromes
- (2009) Saskia M C Langemeijer et al. NATURE GENETICS
- Mutation inTET2in Myeloid Cancers
- (2009) François Delhommeau et al. NEW ENGLAND JOURNAL OF MEDICINE
- SOCS-mediated downregulation of mutant Jak2 (V617F, T875N and K539L) counteracts cytokine-independent signaling
- (2009) S Haan et al. ONCOGENE
- KIT and Mastocytosis
- (2008) Ken-Hong Lim et al. ACTA HAEMATOLOGICA
- Absence of SKP2 expression attenuates BCR-ABL-induced myeloproliferative disease
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- YRRL motifs in the cytoplasmic domain of the thrombopoietin receptor regulate receptor internalization and degradation
- (2008) I. S. Hitchcock et al. BLOOD
- Mutation Profile of JAK2 Transcripts in Patients with Chronic Myeloproliferative Neoplasias
- (2008) Wanlong Ma et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice
- (2007) R. Tiedt et al. BLOOD
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