|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The recurrent V617F mutation in JAK2 (JAK2V617F) has emerged as the primary contributor to the pathogenesis of myeloproliferative neoplasms (MPN).
|
26755644 |
2016 |
|
rs77375493
|
|
|
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
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The assay characteristics and our initial evaluation indicate this method can be used for the detection and quantification of JAK2 V617F, which should be useful for diagnosis of myeloproliferative neoplasms and potentially for monitoring minimal residual disease in future trials of therapies targeted to myeloproliferative neoplasms.
|
19959796 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation.
|
23469088 |
2013 |
|
rs77375493
|
|
|
0.800 |
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.
|
20153505 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative disorders.
|
18216297 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs).
|
18160670 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis.
|
18055983 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified a haplotype that preferentially acquires JAK2(V617F) and confers susceptibility to myeloproliferative neoplasms.
|
19287385 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Moreover, cases of myeloproliferative neoplasms (MPN) with low levels of JAK2 V617F mRNA were even missed in QST when lysis buffer RLT Plus was used, but they were readily detected after addition of BME.
|
23614569 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in the diagnosis of myeloproliferative disorders.
|
21118387 |
2011 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Identification of oncostatin M as a JAK2 V617F-dependent amplifier of cytokine production and bone marrow remodeling in myeloproliferative neoplasms.
|
22051730 |
2012 |
|
rs77375493
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F.
|
17006961 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of the JAK(V617F) kinase established a common pathogenetic link to the most important types of Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
21521147 |
2011 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse.
|
23300178 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations.
|
17194663 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is frequently observed in classical myeloproliferative disorders, and disease progression is associated with a biallelic acquisition of the mutation occurring by mitotic recombination.
|
18515659 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders.
|
16901656 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we report the first human disease-related mutations in the adaptor protein LNK, a negative regulator of JAK-STAT signaling, in 2 patients with JAK2 V617F-negative myeloproliferative neoplasms (MPNs).
|
20404132 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms.
|
20870899 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Following the discovery of the Janus kinase (JAK) 2 V617F mutation in 2005 the explosion of research and drug development activity has not only advanced our understanding of the pathogenesis of myeloproliferative neoplasms (MPNs) but also triggered debate about classification, allowed revised diagnostic and response criteria, provided a target for treatment and a mode of monitoring its success.
|
22463737 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The objective of this study was to validate the recently revised 2008 WHO diagnostic criteria of myeloproliferative neoplasms (MPN) together with the analysis of correlation of JAK2 (Janus kinase 2)-V617F mutant allele burden with clinical/laboratory findings on each patient.
|
18661406 |
2008 |
|
rs77375493
|
|
|
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 |