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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.
|
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.
|
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.
|
23781511 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Fourteen (74%) of the 19 patients were heterozygous for JAK2(V617F) but did not meet diagnostic criteria for a MPD at the time of presentation with thrombosis.
|
19046316 |
2008 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Using quantitative mutation assays, we compared patterns of clinical and cytogenetic progression in MPL-mutated MPN (n=21) to those with JAK2 V617F mutation (n=383) or neither mutation (n=109).
|
20113830 |
2010 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
|
15860661 |
2005 |
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rs77375493
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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 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Sixty-eight BCR/ABL-negative MPD patients (46.3%) were found harboring JAK2 V617F mutation (PV, 62.5%; ET, 42.1%; IMF 38.1%).
|
18464114 |
2008 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01).
|
29047144 |
2018 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The present study support the concept of the JAK2 V617F positive chronic myeloproliferative disorders as a biological continuum with phenotypic presentation in part influenced by JAK2 V617F mutational load.
|
17961178 |
2007 |