rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Negative valine (V) to phenylalanine (F) switch at the Janus kinase (JAK2) 617 codon (V617F) is the dominant driver mutation in patients with myeloproliferative neoplasms (MPNs).
|
29066347 |
2017 |
rs77375493
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis.
|
28609766 |
2017 |
rs77375493
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In particular, gain-of-function mutations in the <i>JAK</i> genes, most frequently, V617F in the pseudokinase domain of JAK2, have been mapped in patients with blood disorders, including myeloproliferative neoplasms and leukemias.
|
29379470 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The study mainly aimed at investigating possible correlations between peripheral blood counts, erythropoietin (EPO), JAK2 V617F mutation, and vascular complications prior to diagnosis of a population-based cohort of newly diagnosed patients with myeloproliferative neoplasms (MPN).
|
28251679 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Since the discovery of the highly prevalent JAK2 V617F mutation in myeloproliferative neoplasms (MPNs), JAK2 became a prime target for inhibition.
|
28119526 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutant-mediated aberrant signaling pathway is a hallmark of myeloproliferative neoplasms (MPNs).
|
28038963 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia.
|
28365441 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations.
|
29042365 |
2017 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder.
|
28228434 |
2017 |
rs77375493
|
|
|
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
|
|
|
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
|
|
|
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 |
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 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.
|
27365426 |
2016 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Janus kinase (JAK)2 p.V617F gain-of-function mutation is a hallmark of BCR-ABL1-negative myeloproliferative neoplasms (MPNs).
|
26361084 |
2016 |
rs77375493
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Marked thrombocytosis is uncommon in chronic myelogenous leukaemia (CML) but may be associated with mutation of JAK2 V617F, calreticulin (CALR) and/or phospho-STAT5 (p-STAT5) activation in other myeloproliferative neoplasms (MPNs), particularly essential thrombocythaemia (ET).
|
26754830 |
2016 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Coexistence of lymphoproliferative and myeloproliferative neoplasms with simultaneous CALR and JAK2 V617F mutations.
|
27662324 |
2016 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation can be detected with a high frequency in patients with myeloproliferative neoplasms (MPN).
|
26931113 |
2016 |
rs77375493
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients.
|
26852656 |
2016 |
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
TERT rs2736100 A>C SNP and JAK2 46/1 haplotype significantly contribute to the occurrence of JAK2 V617F and CALR mutated myeloproliferative neoplasms - a multicentric study on 529 patients.
|
27061303 |
2016 |