|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
13 of the 27 JAK2 V617F-positive subjects with SVT were previously known to have a myeloproliferative disease (MPD).
|
17307838 |
2007 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2(V617F).The etiology of MPNs remains unknown.
|
22076943 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients.
|
22227528 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F.
|
22513837 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms such as polycythemia vera (PV), which are associated with the JAK mutation V617F, remain incurable despite progress in the use of JAK2 inhibitors for treatment of some of these diseases.
|
27784744 |
2017 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
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
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes.
|
28685257 |
2018 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations.
|
29042365 |
2017 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation.
|
30828850 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A valine-to-phenylalanine substitution at position 617 (V617F) in the Janus kinase 2 (JAK2) gene has been recently associated with key signaling abnormalities in the transduction of haemopoietic growth-factor receptors and is now considered as a useful clinical marker of myeloproliferative neoplasms.
|
20359349 |
2010 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A general theme is that JAK2 V617F is variably associated with thrombosis and, more consistently, associated with elevations in blood counts relative to mutation-negative myeloproliferative disorders; future preclinical research should focus on the pathophysiology of thrombosis in myeloproliferative disorders, particularly in terms of the relationship between dysregulated Janus kinase 2 and elevated blood counts.
|
17934351 |
2007 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.
|
24729973 |
2014 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).
|
17698191 |
2008 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A quantitative assay for JAK2(V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis.
|
16572198 |
2006 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression.
|
23558526 |
2013 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD).
|
18528646 |
2008 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis.
|
20205617 |
2010 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages.
|
26843622 |
2016 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia.
|
21722956 |
2011 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms.
|
26692333 |
2016 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.
|
16675710 |
2006 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Allelic expression imbalance of JAK2 V617F mutation in BCR-ABL negative myeloproliferative neoplasms.
|
23349688 |
2013 |