rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
[Analysis of DNMT3a gene mutations in acute myelogenous leukemia].
|
21518476 |
2011 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
Quantitative detection of DNMT3A R882H mutations at different time points of AML</span> disease enables screening of follow-up samples.
|
25994761 |
2015 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
DNMT3A R882H, a frequent mutation in acute myeloid leukemia (AML), plays a critical role in malignant hematopoiesis.
|
31703632 |
2019 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
The DNMT3A R882H mutation is frequently observed in acute myeloid leukemia (AML).
|
29518238 |
2018 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML.
|
27991732 |
2017 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong cancer connection, which are potential downstream targets of R882H.
|
31620784 |
2019 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.
|
24606448 |
2014 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
DNMT3A mutations in acute myeloid leukemia.
|
21067377 |
2010 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
The DNA methyltransferase DNMT3A R882H mutation is observed in 25% of all AML patients.
|
30185810 |
2018 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Cancer stem cells: Tracing clones.
|
22898540 |
2012 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
G |
0.800 |
CausalMutation
|
CLINVAR |
DNMT3A mutations in acute myeloid leukemia.
|
21067377 |
2010 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation.
|
22744846 |
2012 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
The importance of the tetramer structure and cooperative mechanism is emphasized by the observation that the R882H mutation in the dimer interface of DNMT3A is highly prevalent in acute myeloid leukemia and leads to a substantial loss of its activity.
|
27768276 |
2018 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results provided novel insight into the role of the DNMT3A R882H mutation in AML pathogenesis and suggested that targeting the cellular GSH synthetic pathway could enhance the current therapy for AML patients with the DNMT3A R882H mutation.
|
28418922 |
2017 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes.
|
24656771 |
2014 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
To explore the features of human AML with the hotspot <i>DNMT3A</i> R882H mutation, we generated Dnmt3a R878H conditional knockin mice, which developed AML with enlarged Lin<sup>-</sup>Sca1<sup>+</sup>cKit<sup>+</sup> cell compartments.
|
28461508 |
2017 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Retroviral oncogenes: a historical primer.
|
22898541 |
2012 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.
|
25795706 |
2015 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes.
|
24656771 |
2014 |
rs147001633
|
|
Leukemia, Myelocytic, Acute
|
|
0.800 |
GeneticVariation
|
BEFREE |
DNMT3A R882H occurs frequently in various cancers, including acute myeloid leukemia, and our results suggest that the effects of R882H and other <i>DNMT3A</i> mutations may go beyond changes in DNMT3A methylation activity.
|
31640986 |
2019 |