|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The high frequency of myeloproliferative features and JAK2 p.V617F mutation, and the low frequency of p53 dysregulation, suggest that fibrosis in the context of CMML has a different pathogenesis from that previously reported in myelodysplastic syndrome.
|
29596070 |
2018 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).
|
20153505 |
2010 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases.
|
18336541 |
2008 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
|
rs387907272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Allele-specific oligonucleotide-polymerase chain reaction was used for the detection of the MYD88 L265P variant, next-generation sequencing was applied to analyze NLRP3 and 28 genes associated with myelodysplastic syndrome, and gene scanning was performed for the detection of X chromosome inactivation.
|
31268627 |
2019 |
|
rs1057520007
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians.
|
28938223 |
2017 |
|
rs1408538785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R525H mutation in DDX41 is thought to play important roles in the development of hereditary myelodysplastic syndrome and acute myelocytic leukemia.
|
28426938 |
2017 |
|
rs371769427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians.
|
28938223 |
2017 |
|
rs559063155
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
|
rs869312828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R525H mutation in DDX41 is thought to play important roles in the development of hereditary myelodysplastic syndrome and acute myelocytic leukemia.
|
28426938 |
2017 |
|
rs2228570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, TT carriers of rs2228570 were closely associated with a poor response to treatment and a higher risk of myelodysplastic syndrome/acute leukemia transformation, while CT carriers more easily evolved to overt paroxysmal nocturnal hemoglobinuria.
|
27018192 |
2016 |
|
rs25489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.
|
26482462 |
2016 |
|
rs745564626
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.
|
26482462 |
2016 |
|
rs755174338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.
|
26482462 |
2016 |
|
rs4553808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT.
|
24631737 |
2014 |
|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.
|
22668018 |
2012 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.
|
22668018 |
2012 |
|
rs1353702185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.
|
22668018 |
2012 |
|
rs878854066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.
|
22668018 |
2012 |
|
rs121913615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic polymorphism of GSTM1, GSTT1 and GSTP1 Ile105Val was investigated in a case-control study in a Hungarian patient population comprising 86 patients with myelodysplastic syndrome and 99 hospital-based controls.
|
18493876 |
2008 |
|
rs121913507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |
|
rs121913682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |