|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (p.R132H), have been reported for WHO grade II and III diffuse gliomas and secondary glioblastomas.
|
22821382 |
2012 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines with upregulated HIF-1α expression, downregulating c-MYC activity and resulting in a consequential decrease in miR-20a, which is responsible for cell proliferation and resistance to standard temozolomide treatment.
|
29625108 |
2018 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma.
|
25427834 |
2015 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro.
|
23115158 |
2013 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
For this reason, it was suggested that immunohistochemistry against IDH1 R132H is sufficient to classify GBM as IDH wild-type in this age group.
|
31758617 |
2020 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions.
|
30203362 |
2018 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030).
|
31667733 |
2019 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The aim of this study was to explore the difference in high mobility group A1 (HMGA1) expression and isocitrate dehydrogenase (IDH) 1 R132H point mutation in initial and recurrent glioblastoma multiforme (GBM), and to further identify whether the expression of HMGA1 has a role in the malignant progression of GBM.
|
26092597 |
2015 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results suggest that the pathogenesis of multicentric gliomas is different from the mutant IDH1-R132H pathogenesis of lower-grade glioma and secondary glioblastomas.
|
27553586 |
2017 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation.
|
20560678 |
2010 |
|
rs121913500
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3).
|
28851427 |
2017 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation.
|
24473683 |
2014 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Induction of G-CIMP+ state by exogenous expression of a mutated isocitrate dehydrogenase 1, IDH1-R132H, suppressed EGFR and H-Ras protein expression as well as pERK accumulation in independent glioblastoma models.
|
25277177 |
2014 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We highlight the importance of Sox11 expression as a favourable prognosticator in glioblastomas. c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgroups of malignant glioma.
|
23619925 |
2013 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis.
|
26381180 |
2015 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas.
|
21955925 |
2011 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5.
|
26190195 |
2015 |
|
rs121913500
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To confirm this mutation's role in GSCs, the IDH1-R132H in GSCs isolated from glioblastoma patients with IDH1 mutations was overexpressed by using lentiviral constructs in vitro, and then the proliferation, differentiation, apoptosis, migration and invasion of the transfected GSCs were explored.
|
29115585 |
2018 |