Condition: Polycythemia Vera


rs77375493 in INSL6;JAK2 gene and Polycythemia Vera PMID 16603627 2006 Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential.

PMID 15781101 2005 A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.

PMID 15793561 2005 A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

PMID 15858187 2005 A gain-of-function mutation of JAK2 in myeloproliferative disorders.

rs1057519753 in JAK1 gene and Polycythemia Vera PMID 16239216 2005 JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor.