|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.
|
15781101 |
2005 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Renovascular hypertension associated with JAK2 V617F positive myeloproliferative neoplasms treated with angioplasty: 2 cases and literature review.
|
29656438 |
2018 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
More recently, human myeloproliferative neoplasms were discovered to be associated with a unique acquired somatic mutation in JAK2 (JAK2 V617F), rare exon 12 JAK2 mutations, or thrombopoietin receptor mutations that constitutively activate wild-type JAK2.
|
22869151 |
2013 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
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
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant.
|
23300995 |
2013 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
JAK2 V617F-dependent upregulation of PU.1 expression in the peripheral blood of myeloproliferative neoplasm patients.
|
21789226 |
2011 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The last decade has witnessed tremendous scientific advances, ushered in by the JAK2 V617F discovery, contributing to enhanced diagnostic capability and understanding of the biology of myeloproliferative neoplasms (MPNs).
|
27913528 |
2016 |
|
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 |
Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis.
|
17022694 |
2006 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy.
|
25479752 |
2014 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients.
|
31123683 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
For JAK2 V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment.
|
26596525 |
2016 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Essential role for Stat5a/b in myeloproliferative neoplasms induced by BCR-ABL1 and JAK2(V617F) in mice.
|
22234689 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
JAK2(V617F) mutation can be found in a large percentage of patients with myeloproliferative neoplasms.
|
19734476 |
2009 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a major role in the development of JAK2 V617F myeloproliferative disorders.
|
18843287 |
2009 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis.
|
28819248 |
2017 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recent studies have identified a recurrent somatic activating mutation (JAK2 V617F) in majority of patients with myeloproliferative disorders (MPDs).
|
22132729 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis).
|
22006129 |
2011 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways.
|
23445613 |
2013 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In the case of myeloproliferative neoplasms (MPN), Epo-independent signaling through EpoR can be caused by a point mutation, V617F, in the EpoR-interacting tyrosine kinase Janus kinase 2 (JAK2).
|
27998978 |
2017 |
|
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 |
Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response.
|
16675707 |
2006 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms.
|
25345590 |
2015 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Several methods have been established to detect the JAK2 V617F mutation, a frequent event involved in the pathogenesis of myeloproliferative neoplasms (MPNs).
|
21786333 |
2011 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders.
|
17178722 |
2007 |