|
leukemia
|
0.400 |
GeneticVariation
|
disease |
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 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
JAK2 clinical mutations cause myeloproliferative neoplasms and leukemia, and the mutations strongly concentrate in the regulatory pseudokinase domain Janus kinase homology (JH) 2.
|
30092288 |
2019 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Survival was longer in JAK2 V617F-unmutated leukaemia (343 days vs. 95 days, P = 0·003).
|
28542718 |
2017 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
JAK2 and SRSF2 mutation were not associated with increased leukemia transformation.
|
29970342 |
2018 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to investigate whether any association exists between genetic polymorphisms in the JAK2, STAT3 and STAT5 genes and individual susceptibility to leukemia.
|
22126101 |
2012 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs).
|
21326037 |
2011 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The incidence of JAK2 V617F in patients with a core binding factor (CBF) leukemia was 3.6% (p<0.01).
|
17229652 |
2007 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that all human TEL/JAK2 fusion variants are oncoproteins in vitro that strongly activate STAT 5, and cause lethal myelo- and lymphoproliferative syndromes in murine bone marrow transplant models of leukemia.
|
9736611 |
1998 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fusion of the TEL gene on 12p13 to the JAK2 tyrosine kinase gene on 9p24 has been found in human leukemia.
|
11278610 |
2001 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia.
|
17851549 |
2008 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Mutations of N-RAS, FLT3 and p53 genes are not involved in the development of acute leukemia transformed from myeloproliferative diseases with JAK2 mutation.
|
16557239 |
2006 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis among different MPNs, disease progression and leukaemia transformation will lead to a better understanding of the development of these disorders, their clinical manifestations, and their treatment.
|
23432162 |
2013 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In approximately 60% of patients, the Janus kinase 2 gene is mutated, in 20%, the calreticulin gene is mutated, and in 5%, the myeloproliferative leukemia virus gene is mutated.
|
27686378 |
2017 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A search for additional mutations identified alterations of RUNX1, WT1, TP53, CBL, NRAS, and TET2, without significant differences between JAK2-mutant and wild-type leukemias.
|
20008300 |
2010 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis.
|
28331226 |
2017 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wild-type counterparts with regard to JAK2 V617F status, exposure to chemotherapy or evolution to leukemia.
|
21712540 |
2011 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The only patient with non-Down's syndrome-associated leukaemia but with a JAK2 mutation had an isochromosome 21q.
|
18805579 |
2008 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia.
|
19691103 |
2009 |
|
leukemia
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Moreover, JAK2 V617F mutations in CBF leukemias were associated with an aggressive clinical course with 80% of the patients relapsing.
|
17229652 |
2007 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data support the testing of type II JAK2 inhibition in patients with JAK2-dependent leukemias and other disorders.
|
26175414 |
2015 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate the presence of mutations in the points most frequent for mutations (hotspot mutations) in phosphatidylinositol-3-kinase (PI3K), Janus kinase 2 (JAK2), FMS-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1), which are involved in leukemia and other cancers, in a population of Brazilian MDS patients.
|
21789382 |
2011 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Constitutively activated mutants of the non-receptor tyrosine kinases (TK) ABL1 (Abelson murine leukemia viral (v-abl) homolog (1) protein) and JAK2 (JAnus Kinase 2 or Just Another Kinase 2) play a central role in the pathogenesis of clinically and morphologically distinct chronic myeloproliferative disorders but are also found in some cases of de novo acute leukemia and lymphoma.
|
18528425 |
2008 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Tauhese results identify a previously unrecognized nuclear role for JAK2 in the phosphorylation of H3Y41 and reveal a direct mechanistic link between two genes, jak2 and lmo2, involved in normal haematopoiesis and leukaemia.
|
19783980 |
2009 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Essential thrombocythemia: past and present.
|
19636672 |
2009 |
|
leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Ginsenoside Rg1 induces apoptosis through inhibition of the EpoR-mediated JAK2/STAT5 signalling pathway in the TF-1/ Epo human leukemia cell line.
|
24761846 |
2014 |