|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
|
20847235 |
2010 |
|
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 |
|
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 |
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 |
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 |
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
GeneticVariation
|
BEFREE |
Genome-wide co-expression network analysis identified several IDH2 R140Q</span> co</span>-expressed genes, of which</span> 56 were significantly associated with AML OS.
|
30896832 |
2019 |
|
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 |
GeneticVariation
|
BEFREE |
Using the IDH2 R140Q mutation as a model, we present a new effective methodology here using the RNA-guided clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system to reproduce or remove AML-associated mutations in or from human leukemic cells, respectively, via introduction of a DNA template at the endogenous gene locus via homologous recombination.
|
28325290 |
2017 |
|
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 |
|
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 |
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hence, we propose the TCM compounds, precatorine and abrine, as potential candidates as lead compounds for further study in drug development process with the IDH2 R140Q mutant protein against cancer.
|
24995286 |
2014 |
|
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 |
Hence, we propose the TCM compounds, precatorine and abrine, as potential candidates as lead compounds for further study in drug development process with the IDH2 R140Q mutant protein against cancer.
|
24995286 |
2014 |
|
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 |
|
Malignant Neoplasms
|
|
0.030 |
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 |
|
Primary malignant neoplasm
|
|
0.030 |
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 |
|
leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Idh-R163Q, which is homologous to the common leukemia-associated IDH2-R140Q mutant, resulted in moderately elevated D-2HG and milder phenotypes.
|
25398939 |
2015 |
|
Acute Erythroblastic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited.
|
25398940 |
2015 |
|
Erythroleukemia (Erythroid/Myeloid)
|
|
0.020 |
GeneticVariation
|
BEFREE |
To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited.
|
25398940 |
2015 |
|
Erythroleukemia (Erythroid/Myeloid)
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recent studies revealed that allosteric inhibitors could selectively inhibit IDH2/R140Q and induce differentiation of TF-1 erythroleukemia and primary human AML cells.
|
29184081 |
2017 |
|
Childhood Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Idh-R163Q, which is homologous to the common leukemia-associated IDH2-R140Q mutant, resulted in moderately elevated D-2HG and milder phenotypes.
|
25398939 |
2015 |
|
Adult Erythroleukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited.
|
25398940 |
2015 |
|
Adult Erythroleukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recent studies revealed that allosteric inhibitors could selectively inhibit IDH2/R140Q and induce differentiation of TF-1 erythroleukemia and primary human AML cells.
|
29184081 |
2017 |
|
Childhood Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Conditional deletion of IDH2/R140Q blocked 2-HG production and maintenance of leukemia stem cells, resulting in survival of the AML mice.
|
25795706 |
2015 |