|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders.
|
16901656 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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
|
JAK2;INSL6
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation.
|
17363731 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies.
|
24404189 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 46/1 haplotype is associated with JAK2 V617F--positive myeloproliferative neoplasms in Brazilian patients.
|
25959311 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Bone marrow mesenchymal stromal cells of patients with myeloproliferative disorders do not carry the JAK2-V617F mutation.
|
19135773 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Angiogenesis in JAK2 V617F positive myeloproliferative neoplasms and ruxolitinib decrease VEGF, HIF-1 enesis in JAK2 V617F positive cells.
|
28554272 |
2018 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of JAK2 V617F mutation has shed light on understanding of the molecular pathways involved in the pathogenesis of the myeloproliferative disorders.
|
19016916 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
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
|
JAK2;INSL6
|
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
|
JAK2;INSL6
|
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
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN).
|
29717448 |
2018 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The second category includes inherited predisposition to true Philadelphia-negative myeloproliferative neoplasms (MPN) and is characterized by low penetrance, clonal haematopoiesis and presence of somatic mutations such as JAK2 V617F.
|
21303356 |
2011 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The identification of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis that are mutually exclusive with the JAK2 V617F mutation has stirred an intensive research interest about the molecular functions of CALR and its mutants in myeloproliferative neoplasms (MPNs) and its diagnostic/prognostic value.
|
28589084 |
2017 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) share the same acquired lesion JAK2(V617F) and may exhibit substantial overlap.
|
21474922 |
2011 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The findings from this study support the possibility of coexisting mutations of the JAK2, CALR, and MPL genes in myeloproliferative neoplasms and suggest that CALR and MPL should be analyzed not only in JAK2-negative patients but also in low V617F mutation patients.
|
27855276 |
2017 |