|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because JAK2 inhibitors are not specific for JAK2(V617F), responses have also been observed in JAK2(V617F) -negative MPNs because of the inhibition of wild-type JAK2, which is also likely responsible for the induction of cytopenias in patients with MF and for the normalization of peripheral blood counts observed in patients with ET or PV.
|
21766300 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
By analyzing microdissectates we were able to demonstrate a different allele burden of the JAK2-V617F mutation in the megakaryo-, erythro-, and granulopoiesis within the bone marrow of a given case of MPN.
|
22006129 |
2011 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients.
|
26227853 |
2015 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype.
|
31248375 |
2019 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Calreticulin mutation represents the second most frequent mutation after JAK2 V617F in myeloproliferative disorder and is considered to be a driving mutation.
|
26460248 |
2015 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders.
|
19941738 |
2009 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Collectively, these results show that BMS-911543 has limited activity in this murine model of JAK2(V617F)-driven MPN and suggest that targeting JAK2 alone may be insufficient to achieve effective disease control.
|
25912019 |
2015 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Considerable effort is being made to understand the role of JAK2(V617F) at the MPN initiation and to clarify the pathogenesis and apoptosis resistance in CML, PV, ET and PMF patients.
|
27282563 |
2016 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Consistent with this, treatment with a small molecule IRAK1/4 inhibitor rescued the aberrantly elevated IL-1β production in the JAK2-V617F MPN model.
|
31434702 |
2019 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis among different MPNs, disease progression and leukaemia transformation will lead to a better understanding of the development of these disorders, their clinical manifestations, and their treatment.
|
23432162 |
2013 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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.
|
18165278 |
2008 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Despite the discovery of the p.V617F in JAK2, the molecular pathogenesis of some chronic myeloproliferative neoplasms remains unclear.
|
22315494 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Despite the recent identification of the JAK2 V617F mutation in a subset of patients with Ph-negative MPDs, the detailed pathogenetic mechanism is still a matter of discussion.
|
17210076 |
2007 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Detection of JAK2(V617F) can be used to assist in the diagnosis of BCR/ABL-negative MPNs.
|
22333011 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PMVT and may be useful to recognize patients who should be carefully observed for the subsequent development of overt MPDs.
|
17059429 |
2007 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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.
|
20551270 |
2010 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation.
|
17285276 |
2007 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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.
|
23023734 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs.
|
25012914 |
2014 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients.
|
20888389 |
2011 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT).
|
16627272 |
2006 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Eight patients underwent the JAK2 V617F gene test when diagnosed with MPN.
|
30452397 |
2018 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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 |