|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM.
|
16949922 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu.
|
19277418 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome.
|
23644853 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients.
|
25116092 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V.
|
18165278 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis.
|
22234689 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis.
|
18048969 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient suffering from essential thrombocythemia and primary myelofibrosis.
|
20587663 |
2010 |
|
rs77375493
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis.
|
24951423 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV.
|
20631743 |
2010 |
|
rs77375493
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD).
|
17145859 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
27468853 |
2016 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)).
|
19287382 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F).
|
20339092 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients.
|
25527813 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A small but significantly increased proportion of Chinese had the JAK2(V617F) mutation but no difference in the frequency of haplotypes associated with PMF in whites.
|
22262778 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrophil JAK2(V617F) allele burdens, was present in 24% of ET, 56% of PV, and 93% of PMF patients, and was independent of the CD34(+) cell JAK2(V617F) genotype.
|
18723264 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis.
|
17018857 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden.
|
30343328 |
2019 |