|
Myeloproliferative disease
|
0.500 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
|
15858187 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
A high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
|
15858187 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders.
|
16204151 |
2005 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
We do not understand the basis for the specificity of the JAK2V617F mutation in clonal disorders of the myeloid, but not lymphoid, lineage, nor has the basis for the pleiotropic phenotype of JAK2V617F-associated myeloproliferative disorders been delineated.
|
16365288 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications.
|
16225651 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recently, we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
|
16081687 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL.
|
16330446 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
|
15860661 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM.
|
16293880 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
We investigated the role of the cytoplasmic tyrosine kinase JAK2 in patients with a myeloproliferative disorder.
|
15781101 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia.
|
16197445 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The recently described V617F mutation in the Janus kinase 2 (JAK2) gene allows defining subclasses of patients with myeloproliferative disorders based on the JAK2 genotype.
|
16081684 |
2005 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
This recent spate of independent studies (one of which is published in this issue of Oncogene) establish abnormal JAK2 activation as the underlying defect in a significant number of cases of myeloproliferative disease, and JAK2 as an important new therapeutic target.
|
16007127 |
2005 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
We investigated the role of the cytoplasmic tyrosine kinase JAK2 in patients with a myeloproliferative disorder.
|
15781101 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects.
|
16271512 |
2005 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
This implies that mutation precedes mitotic recombination which acts as a "second hit" responsible for removal of the remaining wild-type allele, as has recently been shown for the JAK2 gene in myeloproliferative disorders.
|
16230371 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
We investigated the role of the cytoplasmic tyrosine kinase JAK2 in patients with a myeloproliferative disorder.
|
15781101 |
2005 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.
|
16675710 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Activation of JAK2 by chromosomal translocation or point mutation is a recurrent event in hematopoietic malignancies, including acute leukemias and myeloproliferative disorders.
|
17077140 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders.
|
16916724 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders.
|
17249502 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The authors studied the biologic significance of the JAK2 (V617F) mutation in familial myeloproliferative disorders.
|
16998940 |
2006 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
We therefore believe that the assay will contribute to early diagnosis of myeloproliferative disorders and to disease management, especially when JAK2-specific inhibitors have become available for therapeutic use.
|
17006961 |
2006 |