|
Myeloproliferative disease
|
0.500 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
LHGDN |
[A recurrent mutation of the JAK2 gene in chronic myeloproliferative disorders].
|
16084028 |
2006 |
|
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 |
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 |
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 |
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 |
BEFREE |
A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects.
|
16271512 |
2005 |
|
Myeloproliferative disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Substitution of a valine for a phenylalanine destabilizes the JH2 domain of JAK2 causes loss of the auto-inhibitory activity of this domain and explains some of the biological phenomena observed in patients with myeloproliferative disorders (MPD).
|
16285006 |
2006 |
|
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 |
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 |
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 |
Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders.
|
16373657 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders.
|
16408098 |
2006 |
|
Myeloproliferative disease
|
0.500 |
PosttranslationalModification
|
group |
BEFREE |
Somatic point mutation in JH2 domain of JAK2 (JAK2V617F), leading also to constitutive tyrosine phosphorylation of JAK2 and its downstream effectors was reported in myeloproliferative disorders.
|
16426581 |
2006 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
At the molecular level, a JAK2 tyrosine kinase mutation (JAK2) has recently been described in a spectrum of myeloproliferative disorders including myelofibrosis with myeloid metaplasia with the reported mutational frequency ranging from 35% to 57% with 9-29% homozygosity.
|
16456374 |
2006 |