rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We selected the six patients with myelodysplastic syndromes</span> or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene.
|
19474426 |
2009 |
rs1695
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
rs1265794840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
rs752492487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
rs121913502
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
rs77375493
|
|
|
0.100 |
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones.
|
19819015 |
2010 |
rs1799945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA.
|
20563578 |
2010 |
rs142883642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
rs1617640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest a strong association between the rs1617640 G/G genotype and MDS.
|
21078205 |
2010 |
rs387906717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia.
|
20354175 |
2010 |
rs397507548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of these children had an A1517C mutation and transient myelodysplasia.
|
20954246 |
2010 |
rs387906631
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |
rs387906631
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |
rs371246226
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
|
22158538 |
2011 |
rs1470755915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
rs3745274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
rs927698341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
rs387906631
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
rs121913502
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
rs121913499
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
|
22668018 |
2012 |
rs1131691014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
|
22668018 |
2012 |
rs878854066
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
|
22668018 |
2012 |