|
Thrombocythemia, Essential
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
In the majority of classic MPN--polycythemia vera, essential thrombocythemia, and primitive myelofibrosis--driver oncogenic mutations affecting Janus kinase 2 (JAK2) or MPL lead to constitutive activation of cytokine-regulated intracellular signaling pathways.
|
21653328 |
2011 |
|
Thrombocythemia, Essential
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
The pathogenesis of essential thrombocythemia.
|
21825979 |
2011 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
We provide evidence of increasing JAK2 V617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively).
|
17961178 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
AlteredExpression
|
disease |
LHGDN |
Rapid decline of JAK2V617F levels during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia.
|
18519514 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
JAK2 V617F, hemostatic polymorphisms, and clinical features as risk factors for arterial thrombotic events in essential thrombocythemia.
|
18365193 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Retrospective data have identified JAK2(V617F) as a risk factor for thrombosis in ET, and have also shown a close association with abdominal vein thrombosis.
|
19176988 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation.
|
16929538 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
The rate of thrombotic complications in JAK2-positive ET patients was significantly higher than that in wild-type ET patients and not statistically different from that in PV patients.
|
17229651 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow.
|
17625603 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
At the diagnosis of ET in Korean patients, identification of JAK2 mutation should be incorporated in the basis for new approaches.
|
18094555 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
LHGDN |
JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET.
|
17379742 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
We conclude that megakaryocytes might be the predominant or even the exclusive lineage that acquires the JAK2(V617F) mutation in ET and that the JAK2(V617F) evolution to higher gene dosages represents a dynamic and complex process substantially involving megakaryocytes.
|
17262192 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR.
|
18720212 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.
|
16885051 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
LHGDN |
JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients.
|
16888614 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Accordingly, the WHO concept of two distinct entities, ET and prefibrotic IMF, does not seem to fit the model of JAK2-positive ET as part of a biological continuum of JAK2 V617F-positive chronic myeloproliferative disorders.
|
18092959 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
"The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia."
|
18701405 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Even though this mutation has been predicted to constitutively activate the JAK2 kinase, spontaneous phosphorylation of STAT5 does not seem to be a frequent finding in platelets from ET patients.
|
16923108 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
These findings suggest that the JAK2 V617F mutation is not rare in childhood sporadic ET cases, and that these cases might be older and myeloproliferative features.
|
18802948 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
In this single-center retrospective study, JAK2(V617F) allele load was measured by sensitive quantitative reverse transcriptase polymerase chain reaction (RT-PCR) in the granulocytes of 260 patients diagnosed as having essential thrombocythemia according to WHO criteria.
|
18166784 |
2008 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
|
17266061 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Uncontrolled thrombocytosis in polycythemia vera is a risk for thrombosis, regardless of JAK2(V617F) mutational status.
|
17611562 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF.
|
18754026 |
2008 |