|
rs10815148
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs10974947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs121912473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One harbored a 33 bp duplication in exon 12 along with an exon 14 p.V617F mutation, another had an exon 12 p.H538_K539delinsL, and a third carried a previously unreported mutation in PV, p.L611S, alone, and in cis with p.V617F.
|
22642932 |
2012 |
|
rs12339666
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When stratified by disease subtypes, the <i>JAK2</i> 46/1 haplotype and <i>JAK2</i> rs12339666 were significantly associated with all three MPN subtypes, but <i>TERT</i> rs2736100 was only associated with essential thrombocythemia and polycythemia vera.
|
29100304 |
2017 |
|
rs12342421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs3808850
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs4495487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV.
|
22251709 |
2012 |
|
rs7046736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation.
|
25116092 |
2015 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As expected, WP1066 inhibited the proliferation of peripheral blood hematopoietic progenitors of patients with polycythemia vera carrying the JAK2 V617F mutation in a dose-dependent manner.
|
18245540 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2.
|
16293597 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found clonal mutations (i.e.H538-K539delinsL and D544G) in 3 of 7 JAK2-V617F-negative PV patients, however, unlike JAK2-V617F, allele burden of JAK2 exon 12 mutation was low.
|
19491085 |
2009 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This phenotype is quite different from that observed in polycythemia vera (PV) caused by JAK2 V617F, whereas both oncogenic TKs activate common downstream molecules at the level of hematopoietic stem cells (HSCs).
|
20663870 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis.
|
19643476 |
2010 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primary MF, post-ET MF, and post-PV MF), presumably due to expansion of the JAK2 V617F clone and that this characteristic is surprisingly independent of JAK2 V617F homozygosity, suggesting that additional genomic lesions may contribute to this unique molecular process that distinguishes MF from ET and PV.
|
20888389 |
2011 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our understanding of the pathophysiology of myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
23209034 |
2013 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis.
|
18048969 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We performed miRNA expression profiling by oligonucleotide microarray analysis in purified peripheral blood CD34+ cells from eight JAK2(V617F)-positive PV patients and six healthy donors.
|
23265742 |
2013 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
|
19941738 |
2009 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and controls.
|
21821860 |
2011 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
By real-time PCR, we showed that, upon exposure to ITF2357, JAK2(V617F) mRNA was not modified in granulocytes from PV patients while the expression of the PRV-1 gene, a known target of JAK2, was rapidly downmodulated.
|
18079739 |
2008 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We performed immunohistochemical studies of MVD and VEGF-expression in 100 MPN, including 24 essential thrombocythemia- (ET), 46 polycythemia vera- (PV), 26 primary myelofibrosis- (PMF), four myelodysplastic (MDS)/MPN- and 20 control reactive bone marrow cases, and correlated these findings with biological and clinical key data and the JAK2-V617F status.
|
19466975 |
2009 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, our results indicate that an undefined molecular lesion, preceding JAK2(V617F), is responsible for clonal hematopoiesis in PV</span>.
|
17198871 |
2007 |
|
rs77375493
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
|
21904853 |
2012 |