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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
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31697803 |
2020 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate.
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23613267 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients.
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18768782 |
2008 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003).
|
29047144 |
2018 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Plasma levels of angiogenic factors and circulating endothelial cells in essential thrombocythemia: correlation with cytoreductive therapy and JAK2-V617F mutational status.
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20615083 |
2010 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Pregnancy is a rare complication of ET, and it has been reported that the number of blood platelets falls with pregnancy in ET patients and the number of blood platelets increases again after a delivery and this phenomenon is observed in JAK2-V617F-positive and JAK2-V617F-negative patients.
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24609764 |
2014 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
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24820309 |
2014 |
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rs77375493
|
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0.100 |
GeneticVariation |
BEFREE |
The discovery of the JAK(V617F) kinase established a common pathogenetic link to the most important types of Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
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21521147 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results.
|
16741247 |
2006 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The number of CD63(+) basophils was higher in patients with polycythemia vera than in healthy subjects or patients with essential thrombocythemia or primary myelofibrosis and was correlated with the V617F burden.
|
19608683 |
2009 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
VWF:RCo levels and VWF:RCo/VWF:Ag ratio were lower among JAK2 V617F positive- vs. JAK2 V617F negative- ET patients (P=0.02 and P=0.002, respectively); whereas VWF:Ag levels were comparable (P=0.96).
|
27919526 |
2017 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study.
|
26028965 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We found that 80 % of the PV group and 42 % of the ET group were positive for the JAK2-V617F mutation.
|
22722988 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations.
|
25746303 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
This is the first reported study of JAK2-inhibitor treatment in patients with PV/ET and highlights both the need for further studies to assess the role of JAK2 inhibition in treatment of PV/ET and the use of JAK2-V617F as a biomarker for response.
|
24903629 |
2014 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Human and murine Jak2 transcripts are expressed at similar levels, and mice develop modest increases in hemoglobin and platelet levels reminiscent of human JAK2 V617F-positive essential thrombocythemia.
|
20489053 |
2010 |
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rs77375493
|
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|
0.100 |
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 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients.
|
29975001 |
2018 |
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rs77375493
|
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|
0.100 |
GeneticVariation |
BEFREE |
We provide evidence of increasing JAK2 V617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively).
|
17961178 |
2007 |
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rs77375493
|
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|
0.100 |
GeneticVariation |
BEFREE |
The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene.
|
26294037 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Treating low-risk essential thrombocythemia and polycythemia vera patients presenting with leukocytosis or JAK2 V617F mutation in order to prevent thrombosis deserves a prospective validation.
|
19468275 |
2009 |
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rs77375493
|
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|
0.100 |
GeneticVariation |
BEFREE |
The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome.
|
16825501 |
2006 |
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rs77375493
|
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|
0.100 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation has recently been described as an essential oncogenic event associated with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocythemia.
|
16954506 |
2007 |
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rs77375493
|
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0.100 |
GeneticVariation |
BEFREE |
Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene).
|
27111338 |
2016 |