|
rs121913614
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The S505N mutation, associated with familial MPD, was detected in 3 patients.
|
21326037 |
2011 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation.
|
25453399 |
2015 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs).
|
19996410 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myeloproliferative disorders with JAK2 V617F.
|
18479730 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen MPL W515L and JAK2 V617F mutations in 190 MPD patients.
|
18464114 |
2008 |
|
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 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPL W515L/K patients presented lower haemoglobin levels, compared with the patients with JAK2V617F mutation-positive cMPDs (p < 0.01).
|
19274616 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
|
24729973 |
2014 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloproliferative disorders.
|
19016916 |
2010 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
|
21331593 |
2011 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also.
|
26189968 |
2015 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs.
|
22304488 |
2012 |
|
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 |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease.
|
18048969 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.
|
17854308 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
|
16037387 |
2005 |
|
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 |
Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients.
|
22227528 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs.
|
16537803 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs.
|
16946305 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report on clinical and molecular data in the largest cohort of JAK2 V617F mutant MPN Danish patients (n=102) being treated long-term with rIFN-alpha2 (rIFN-alpha2a and rIFN-alpha2b in a non-clinical trial setting.The median follow-up was 42 months.
|
23827351 |
2013 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder.
|
19693645 |
2012 |