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rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our findings support the possibility of coexisting JAK2 V617F and CALR mutations and stress the importance of further molecular screening in MPN patients with low allele frequencies of JAK2 V617F.
|
30292681 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, reports about Philadelphia and JAK2 V617F-positive MPN cases have been described in literature.
|
29508552 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LY2784544 demonstrated efficacy in JAK2 V617F-mutated MPNs, including in patients previously on ruxolitinib therapy, who had an ORR of 3.3%.
|
30025280 |
2018 |
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rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Erythroid staining for pSTAT5 was seen exclusively in "triple-negative (TN)" cases lacking JAK2 V617F, MPL, and CALR mutations (P=0.006, TN vs. other genotypes), and pSTAT5 staining in megakaryocyte nuclei was seen in 2 TN cases. pSTAT5 staining in TN MPN suggests that other unknown abnormalities in this pathway may contribute to the pathogenesis of these cases.
|
27258562 |
2018 |
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rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review.
|
29656438 |
2018 |
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rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We found the expression levels of p-JAK2, VEGF, HIF-1a and MVD in the newly diagnosed MPNs were significantly increased and were related to the JAK2 V617F burden.
|
28554272 |
2018 |
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rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Eight patients underwent the JAK2 V617F gene test when diagnosed with MPN.
|
30452397 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Of the 51 patients diagnosed with MPN and a JAK-2 V617F mutation, 33 suffered from PV, 15 from ET and 3 from MF.
|
29492207 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The activated JAK2-V617F mutant is very frequently found in myeloproliferative neoplasms (MPNs), and its inhibitor ruxolitinib has been in clinical use, albeit with limited efficacies.
|
29928488 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our experiments revealed high analytical sensitivity for both tests, suggesting that they are capable of detecting the JAK2 V617F mutation at diagnosis of MPN with a limit of detection (LoD) of 0.12% for qPCR and 0.01% for ddPCR.
|
30056580 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN).
|
29717448 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion.
|
29214759 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, the combination of BMN673, ruxolitinib, and hydroxyurea was highly effective in vivo against JAK2(V617F)<sup>+</sup> murine MPN-like disease and also against JAK2(V617F)<sup>+</sup>, CALR(del52)<sup>+</sup>, and MPL(W515L)<sup>+</sup> primary MPN xenografts.
|
29042365 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity.
|
28008177 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results from gene expression and chromatin occupancy analysis have focused on the JAK-STAT pathway activated in both JAK2 V617F- and CALR-mutated MPN patient groups, although a more complete analysis is needed to be performed in MKs.
|
28589084 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Negative valine (V) to phenylalanine (F) switch at the Janus kinase (JAK2) 617 codon (V617F) is the dominant driver mutation in patients with myeloproliferative neoplasms (MPNs).
|
29066347 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous.
|
28168700 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study mainly aimed at investigating possible correlations between peripheral blood counts, erythropoietin (EPO), JAK2 V617F mutation, and vascular complications prior to diagnosis of a population-based cohort of newly diagnosed patients with myeloproliferative neoplasms (MPN).
|
28251679 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutant-mediated aberrant signaling pathway is a hallmark of myeloproliferative neoplasms (MPNs).
|
28038963 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Taken together, our results show that p53 loss is sufficient for inducing leukemic transformation in Jak2 V617F-positive MPN.
|
28068330 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder.
|
28228434 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, the combination of BMN673, ruxolitinib, and hydroxyurea was highly effective in vivo against JAK2(V617F)<sup>+</sup> murine MPN-like disease and also against JAK2(V617F)<sup>+</sup>, CALR(del52)<sup>+</sup>, and MPL(W515L)<sup>+</sup> primary MPN xenografts.
|
29042365 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
While both variants have a significant contribution, they have nuanced consequences, with JAK2 46/1 predisposing essentially to JAK2 V617F-positive MPN, and TERT rs2736100 A>C having a more general, non-specific effect on all MPN, regardless of phenotype or major molecular subtype.
|
27061303 |
2016 |