|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis.
|
20205617 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majority of patients with polycythemia vera (PV), essential thrombocythemia, and primary myelofibrosis.
|
20197548 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
|
15793561 |
2005 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation.
|
20013324 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected.
|
17059429 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
All four samples were positive for JAK2 V617F, confirming the presence of a clonal hematopoietic disorder consistent with PV.
|
16827884 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis).
|
20528738 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although JAK2(V617F) transcript levels did not decrease upon exposure to dasatinib, the drug might suppress PV progenitors through inhibition of a yet undefined molecular target.
|
18717827 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among patients with PV and ET, methylation of the PRV-1 gene is also inversely correlated with the presence of the JAK2(V617F) somatic mutation.
|
17976520 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV.
|
19167611 |
2009 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An activating mutation (V617F) in the pseudokinase domain of the Janus kinase (JAK)-2 tyrosine kinase has been described in 90% of patients with polycythemia vera (PV) and 50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (MF).
|
22583424 |
2012 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases.
|
30717771 |
2019 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in most polycythemia vera (PV) patients.
|
17976517 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations.
|
29217833 |
2017 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12.
|
21646683 |
2011 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As expected, WP1066 inhibited the proliferation of peripheral blood hematopoietic progenitors of patients with polycythemia vera carrying the JAK2 V617F mutation in a dose-dependent manner.
|
18245540 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p<0.001).
|
19252176 |
2009 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Because JAK2 inhibitors are not specific for JAK2(V617F), responses have also been observed in JAK2(V617F) -negative MPNs because of the inhibition of wild-type JAK2, which is also likely responsible for the induction of cytopenias in patients with MF and for the normalization of peripheral blood counts observed in patients with ET or PV.
|
21766300 |
2012 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Because the erythropoietin, thrombopoietin, and granulocyte colony-stimulating factor receptors are all constitutively activated, polycythemia vera is the potential ultimate clinical phenotype of the JAK2 V617F mutation and, as a corollary, is the most common of the 3 disorders.
|
20194236 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Biomarker analysis in polycythemia vera under interferon-alpha treatment: clonality, EEC, PRV-1, and JAK2 V617F.
|
17256145 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Both patients with familial PV carrying an exon 12 mutation had an affected sibling with JAK2 (V617F)-positive PV.
|
17984312 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
By real-time PCR, we showed that, upon exposure to ITF2357, JAK2(V617F) mRNA was not modified in granulocytes from PV patients while the expression of the PRV-1 gene, a known target of JAK2, was rapidly downmodulated.
|
18079739 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene.
|
17439832 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).
|
22847163 |
2012 |