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 |
rs371769427
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MDS and acute myeloid leukemia patient samples harboring U2AF35(S34F) have a similar increased use of the ATG7 distal CP site, and previous studies have shown that mice with hematopoietic cells lacking Atg7 develop an MDS-like syndrome.
|
27184077 |
2016 |
rs559063155
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
rs866082104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN).
|
24399021 |
2013 |
rs371769427
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.
|
25311244 |
2015 |
rs1464681682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).
|
25311244 |
2015 |
rs371246226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).
|
25311244 |
2015 |