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rs77375493
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0.100 |
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.
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25719551 |
2015 |
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rs77375493
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0.100 |
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.
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18165278 |
2008 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation.
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29306106 |
2018 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
These data strongly suggest that JAK2 V617F uses distinct signalling pathways to induce typical pathological features of MPN, such as high LAP activity and enhanced cell proliferation.
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20553273 |
2010 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
In patients with MPNs, activating mutations in RAS co-occur with the JAK2(V617F) mutation in the malignant cells, suggesting that RAS effector pathways likely play an important role in clinically observed resistance.
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25538080 |
2014 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peripheral blood granulocytes are specific markers for chronic myeloproliferative disorders (MPD), which facilitate the differential diagnosis between polycythemia vera (PV) and secondary erythrocytosis (SE) and may be helpful for monitoring treatment efficacy in MPD patients.
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17852451 |
2007 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells.
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22579713 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN).
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24963593 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Overall, for every 100 V617F mutations in patients with suspected MPDs, there were 12.9 MPL mutations, 2.3 JAK2 exon 12 mutations, and 1.3 JAK2 exons 13 to 14 mutations.
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21326037 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
In addition, our findings in JAK2(V617F)-negative SVT patients indicate an important role for the 46/1 haplotype in the etiology and diagnosis of SVT-related MPNs, independent of JAK2(V617F), that requires further exploration.
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21364191 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We conclude that multiple molecular abnormalities are involved in the pathogenesis of the MPDs and that aberrant Mpl expression may be a common denominator of aberrant signaling in both the JAK2 V617F-positive and JAK2 V617F-negative MPDs.
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16912229 |
2006 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Determination of the JAK2(V617F) mutation may be useful to identify patients who should be carefully observed for the development of overt MPDs.
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20551270 |
2010 |
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rs77375493
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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.
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28589084 |
2017 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant.
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20028972 |
2010 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm.
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20153505 |
2010 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Discovery of the JAK2 V617F mutation in the myeloproliferative neoplasms (MPNs) essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) has stimulated great interest in the underlying molecular mechanisms and treatment of these diseases.
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23023734 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We conclude that HU has only a limited effect on the JAK2 V617F allele burden in CMPD.
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19154659 |
2009 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) share the same acquired lesion JAK2(V617F) and may exhibit substantial overlap.
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21474922 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
These observations are further supported by laboratory parameters which suggest that the JAK2 V617F mutation may confer increased activation of leucocytes and platelets in MPD.
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19004076 |
2008 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN.
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29767839 |
2018 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic hybridization delineated a deletion of about 3 Mb at 9q13 approximately q21 and a deletion of about 2 Mb at 12q22 containing SOCS2.
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17574970 |
2007 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
In summary, JAK2 V617F-mediated up-regulation of OSM may contribute to fibrosis, neoangiogenesis, and the cytokine storm observed in MPNs, suggesting that OSM might serve as a novel therapeutic target molecule in these neoplasms.
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22051730 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
For instance, a large proportion of patients with myeloproliferative neoplasms (MPN) carry the acquired gain-of-function JAK2 V617F somatic mutation.
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23406773 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
It identifies most of the patients with the JAK2 V617F but also other JAK2 wild-type CMPD patients.
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17255768 |
2007 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
We conclude that TET2 mutations occur in both JAK2 V617F-positive and -negative MPNs and are more frequent in MPN-U patients.
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23781511 |
2013 |