Glioblastoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein.
|
22057236 |
2011 |
Hemangioma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
Glioblastoma Multiforme
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
Enchondroma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
Vascular lesions
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
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 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
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 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
Leukemia, Myelocytic, Acute
|
|
0.740 |
GeneticVariation
|
BEFREE |
The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffuse gliomas or AML, accounted for 40% of these mutations.
|
22323113 |
2012 |
Glioma
|
|
0.720 |
GeneticVariation
|
BEFREE |
For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1).
|
22396072 |
2012 |
MYELODYSPLASTIC SYNDROME
|
|
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 |
Chondrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the 13 chondrosarcomas analyzed, six (46.1%) displayed IDH1/2 mutations (the predominant type was IDH1 R132C).
|
22323113 |
2012 |
Adult Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.
|
22885298 |
2012 |
Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.
|
22885298 |
2012 |
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation.
|
23358936 |
2013 |
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
This is the first report to establish anti-IDH1-R132G-specific mAbs, which is useful in immunohistochemistry of IDH1-R132G-bearing tumors.
|
23485467 |
2013 |