|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy.
|
16532437 |
2006 |
|
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 |
We conclude that JAK2 V617F genotype should be considered in any future risk stratification of patients with PMF.
|
17712047 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.
|
17565328 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs.
|
16919893 |
2007 |
|
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 |
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 |
Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V6</span>17F) does not appear to be a causative factor.
|
17587878 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF).
|
17255768 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We detected the JAK2 V617F mutation in B and NK cells in approximately half the patients with IMF and a minority of those with PV.
|
16954506 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more "erythremic" and less "thrombocythemic": a molecular, histologic, and clinical study.
|
17875526 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Overall survival and probability of survival free of thrombosis, bleeding and MF were analyzed by the Kaplan-Meier method and the presence of the Janus Kinase 2 (JAK2) V617F mutation correlated with the appearance of such complications.
|
17519959 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated.
|
17296581 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We provide evidence of increasing JAK2 V</span>617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively).
|
17961178 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation.
|
16990584 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia.
|
17133423 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is a frequent genetic event in the three classical Philadelphia-chromosome negative chronic myeloproliferative disorders (Ph(neg.)-CMPD), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
17313377 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis.
|
17213018 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia.
|
17178722 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis.
|
17285276 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Follow-up of transgenic mice expressing V617F JAK2 showed that they develop typical features of myelofibrosis.
|
16901656 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis.
|
17389152 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
There was a trend towards an association between SOCS3 methylation and lower SOCS3 expression in JAK2 V617F negative patients with idiopathic myelofibrosis but not in JAK2 V617F positive ones.
|
18815196 |
2008 |
|
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 |