PREFERENTIAL NUCLEAR ACCUMULATION OF JAK2V617F IN CD34+ BUT NOT IN GRANULOCYTIC, MEGAKARYOCYTIC OR ERYTHROID CELLS OF PATIENTS WITH PHILADELPHIA-NEGATIVE MYELOPROLIFERATIVE NEOPLASIA. [PDF]
Recently, Dawson et al. identified a previously unrecognized nuclear role for JAK2 in the phosphorylation of the tyrosine 41 of the histone H3 with the exclusion of HP1a from chromatin and resulting in a disregulation of several JAK2-regulated genes such
Rinaldi, Ciro Roberto
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Chronic Neutrophilic Leukemia with V617F JAK2 Mutation [PDF]
Chronic neutrophilic leukemia (CNL) is a rare disease grouped under World health organization classification as chronic myeloproliferative disease. It is a diagnosis of exclusion in patients with sustained mature neutrophilia and splenomegaly with no evidence of other myeloproliferative disease or reactive neutrophilia.
Smeeta, Gajendra +5 more
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Screening of JAK2 V617F mutation in multiple myeloma [PDF]
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Fiorini, A +10 more
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JAK2 V617F Mutation in Patients with Thrombosis
Background: Thrombosis is a major disorder with serious complications. The JAK2V617F mutation results in constitutive phosphorylation of JAK2 and activation of the cellular proliferation cascade. The present study aimed to clarify the prevalence of JAK2V617F mutation in patients with thrombosis. Subjects and Methods: This case-control study
Azza Ibrahim Ismail Raslan +4 more
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Studies of JAK2 mutations in myeloproliferative disorders [PDF]
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
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Background Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to be a JAK2-V617F mutation-related disorder.
Annette H. Schmitt-Graeff +8 more
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Inhibitory HLA-C/KIR2DL2 Interactions and KIR Allelic Polymorphisms Are Associated With Susceptibility to Philadelphia Chromosome-Negative Myeloproliferative Neoplasms. [PDF]
ABSTRACT Background Immune surveillance is increasingly recognized as a determinant of clonal selection in Philadelphia chromosome‐negative myeloproliferative neoplasms (MPN). While HLA‐restricted adaptive immune effects have been described, the contribution of inherited variation in natural killer (NK)‐cell regulatory pathways remains less well ...
Shivarov V +3 more
europepmc +2 more sources
The human myeloproliferative disorders: molecular pathogenesis and clonal heterogeneity [PDF]
The classical myeloproliferative disorders (MPD), comprising essential thrombocythaemia (ET), polycythaemia vera (PV) and idiopathic myelofibrosis (IMF), are clonal premalignant haematopoietic neoplasms associated with activating mutations in signalling ...
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JAK2 exon 14 deletion in patients with chronic myeloproliferative neoplasms. [PDF]
BACKGROUND: The JAK2 V617F mutation in exon 14 is the most common mutation in chronic myeloproliferative neoplasms (MPNs); deletion of the entire exon 14 is rarely detected.
Wanlong Ma +9 more
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JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. [PDF]
The JAK2 V617F mutation present in over 95% of Polycythemia Vera patients and in 50% of Essential Thrombocythemia and Primary Myelofibrosis patients renders the kinase constitutively active.
Alexandra Dusa +4 more
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