rs9376092
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN.
|
29047144 |
2018 |
rs9376092
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we aimed to evaluate the association of five germline variations (<i>JAK2</i> 46/1 haplotype tagged by rs12343867, <i>JAK2</i> intron 8 rs12339666, <i>TERT</i> rs2736100, <i>HBS1L</i>-<i>MYB</i> rs9376092 and <i>MECOM</i> rs2201862) and the risk of MPNs in Taiwanese population.
|
29100304 |
2017 |
rs796065343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we demonstrate that the most prevalent, activating mutation, CSF3R T618I, is sufficient to drive a lethal myeloproliferative disorder in a murine bone marrow transplantation model.
|
24081659 |
2013 |
rs778767225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the S100A mRNA levels were increased in MPN patient-derived circulatory CD34<sup>+</sup> cells, and that their protein expression levels were also augmented in their granulocytes and bone marrow stroma cells, depending on the JAK2V617F mutation allele burden.
|
29946821 |
2018 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
|
21331593 |
2011 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also.
|
26189968 |
2015 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs.
|
22304488 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease.
|
18048969 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.
|
17854308 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
|
16037387 |
2005 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity.
|
28008177 |
2017 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients.
|
22227528 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs.
|
16537803 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs.
|
16946305 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report on clinical and molecular data in the largest cohort of JAK2 V617F mutant MPN Danish patients (n=102) being treated long-term with rIFN-alpha2 (rIFN-alpha2a and rIFN-alpha2b in a non-clinical trial setting.The median follow-up was 42 months.
|
23827351 |
2013 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder.
|
19693645 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V.
|
18165278 |
2008 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation.
|
29306106 |
2018 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These data strongly suggest that JAK2 V617F uses distinct signalling pathways to induce typical pathological features of MPN, such as high LAP activity and enhanced cell proliferation.
|
20553273 |
2010 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In patients with MPNs, activating mutations in RAS co-occur with the JAK2(V617F) mutation in the malignant cells, suggesting that RAS effector pathways likely play an important role in clinically observed resistance.
|
25538080 |
2014 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peripheral blood granulocytes are specific markers for chronic myeloproliferative disorders (MPD), which facilitate the differential diagnosis between polycythemia vera (PV) and secondary erythrocytosis (SE) and may be helpful for monitoring treatment efficacy in MPD patients.
|
17852451 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells.
|
22579713 |
2012 |