Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients.
|
26852656 |
2016 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques.
|
19877761 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Identification of janus kinase 2 (JAK2) mutation even in absence of myeloproliferative disorders (MPNs) was found to be related to venous thromboembolism occurrence.
|
31229378 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We propose that JAK2 mutation analysis be considered in patients with recurrent, unexplained arterial events to identify those with occult myeloproliferative disorders.
|
19174256 |
2009 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
As such, CALR first, followed by MPL if CALR is absent, mutation screening is appropriate in the diagnostic work-up of JAK2-unmutated ET but does not replace the need for BM morphologic examination in (1) confirming the diagnosis in triple-negative ET and (2) distinguishing ET from other myeloproliferative neoplasms that share the same mutations, including masked PV and early/prefibrotic myelofibrosis.
|
26355403 |
2015 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms.
|
20472853 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders.
|
16916724 |
2006 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although the Janus family of kinases (JAK1, JAK2, JAK3, and TYK2) has been extensively characterized and investigated, the role of Janus kinase activation in the pathogenesis and therapy of human malignancies was not fully appreciated until recently when multiple studies identified a recurrent somatic mutation in the JAK2 tyrosine kinase (JAK2V617F) in the majority of patients with BCR-ABL-negative myeloproliferative neoplasms (MPN), polycythemia vera, essential thrombocytosis, and primary myelofibrosis.
|
21823028 |
2012 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Such HLA-G5-mediated inhibition constitutes a new parameter to be considered in the design of future approaches aimed at treating JAK2 V617F-positive myeloproliferative disorders.
|
18059484 |
2008 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The spectrum of JAK2-positive myeloproliferative neoplasms.
|
23233635 |
2012 |
Myeloproliferative disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Histone deacetylases inhibitor sodium butyrate inhibits JAK2/STAT signaling through upregulation of SOCS1 and SOCS3 mediated by HDAC8 inhibition in myeloproliferative neoplasms.
|
23111066 |
2013 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
JAK2 kinase inhibitors and myeloproliferative disorders.
|
20087176 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Primary and post-ET/PV myelofibrosis are myeloproliferative neoplasms harboring in most cases driving mutations in JAK2, CALR or MPL, and a variable number of additional mutations in other genes.
|
31446640 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
25259626 |
2014 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The acquired gain-of-function V617F mutation in the Janus Kinase 2 (JAK2(V617F)) is the main mutation involved in BCR/ABL-negative myeloproliferative neoplasms (MPNs), but its effect on hematopoietic stem cells as a driver of disease emergence has been questioned.
|
23863895 |
2013 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutation(s) of the JAK2 gene (V617F) has been described in a significant proportion of Philadelphia negative Myeloproliferative Neoplasms (MPN) patients and its detection is now a cornerstone in the diagnostic algorithm.
|
23865766 |
2013 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identified in human myeloproliferative disorders.
|
17384221 |
2007 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.
|
21224469 |
2011 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 (JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders.
|
20434300 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our data suggest that the loss of SH2B3 inhibitory function conferred by the PH domain mutations is mild and may collaborate with JAK2 V617F and CBL mutations in order to promote either the development or the progression of myeloproliferative neoplasms.
|
23590807 |
2013 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms.
|
23130336 |
2012 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders.
|
17249502 |
2006 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The most prominent genes of this locus are programmed death ligands 1 and 2 (PDL1/PDL2), with the amplification of PDL1 being a hallmark of both classical Hodgkin and primary mediastinal B cell lymphoma, and Janus kinase 2 (JAK2), which is point-mutated in myeloproliferative neoplasms and other myeloid malignancies, and rearranged in PCM1-JAK2-positive myeloid/lymphoid neoplasms with eosinophila.
|
30132131 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The transcription factor nuclear factor erythroid-2 is over-expressed in patients with myeloproliferative neoplasms irrespective of the presence of the JAK2(V617F) mutation.
|
23445878 |
2013 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The role of Janus kinase 2 (JAK2) in myeloproliferative neoplasms: therapeutic implications.
|
23313046 |
2013 |