|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
|
20847235 |
2010 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
|
20847235 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
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 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
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 |
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
|
21889589 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
D-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
Combined D-2- and L-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therapeutic strategies, we developed a specific and sensitive IDH2(wt/R140Q) enzyme assay in lymphoblasts.
|
21889589 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
GeneticVariation
|
BEFREE |
IDH mutations occurred at a considerable frequency of 15.89% in Chinese AML cases; IDH2 R140Q was the most frequent genetic alteration and was associated with older age, normal karyotype, and French-American-British classification M2 at diagnosis.
|
22494415 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.
|
22397365 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation.
|
23815907 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
|
23949315 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
GeneticVariation
|
BEFREE |
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
|
23949315 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation.
|
23558173 |
2013 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
These data provide proof-of-concept that inhibitors targeting mutant IDH2/R140Q could have potential applications as a differentiation therapy for cancer.
|
23558173 |
2013 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
These data provide proof-of-concept that inhibitors targeting mutant IDH2/R140Q could have potential applications as a differentiation therapy for cancer.
|
23558173 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
GeneticVariation
|
BEFREE |
Of 230 samples from patients with AML 30 (13%) samples had DNMT3A mutations, 16 (7%) samples had IDH2 R140Q mutations and 36 (16%) samples had IDH1 mutations.
|
24887327 |
2014 |