ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE In summary, we have uncovered the existence, in anaplastic astrocytomas but not in glioblastomas with the same IDH and ATRX mutations, of a correlation between patient age and the level of activity of ALT, a telomerase-independent pathway of telomere maintenance. 31706351 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 Biomarker disease BEFREE We describe genetic alterations in isocitrate dehydrogenase, ATRX, the telomerase promoter, and histone H3 variants that promote GBM tumorigenesis and have altered GBM categorization. 29548052 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE The classification of gliomas has been restructured with the discovery of isocitrate dehydrogenase (IDH) 1/2 mutations in the vast majority of lower grade infiltrating gliomas and secondary glioblastomas (GBM), with IDH-mutant astrocytomas further characterized by TP53 and ATRX mutations. 29521646 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE Moreover, p-Hsp27<sup>+</sup> predicted better sensitivity for standard therapy among GBMs without the IDH1 mutation and ATRX loss (26.3 vs 15.5 months, P=0.008). 29550762 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE A new molecular group of GBMs harbored alterations in ATRX or DAXX genes in the absence of driver IDH or H3F3A mutations. 30010995 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE H3K27M mutation occurs exclusively in pHGGs arising from the midline and presents with varied histomorphological features ranging from low-grade pilomyxoid astrocytoma to highly pleomorphic glioblastoma along with ATRX loss and p53 mutations. 29063957 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE ATRX-mutated GBMs exhibited statistically significant increased CD3 immunoreactivity, while those with p53 mutations were found to have significantly increased CTLA4 immunoreactivity. 29302887 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 Biomarker disease BEFREE We review how molecular testing for IDH1 and ATRX and detection of chromosome 1p/19q codeletion can be used to categorize glioblastomas as IDH-wildtype or IDH-mutant, and lower grade diffuse gliomas into three molecular groups that correlate better with patient outcomes than histologic subtyping. 28674742 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE Combined BRAF and ATRX mutations are rare in gliomas, with only a pediatric case of glioblastoma being reported in the literature. 28185325 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 Biomarker disease BEFREE Higher frequency of ATRX immune-negativity was detected in grade II/III astrocytic, oligoastrocytic tumors and secondary glioblastomas (GBMs), while infrequent in primary GBMs and rare in oligodendrogliomas. 26833422 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 AlteredExpression disease BEFREE Interestingly, the C-circles assay allowed to detect ALT activation in glioblastomas exhibiting wild-type IDH1/2 and ATRX expression. 28755323 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 Biomarker disease BEFREE We developed an animal model of ATRX-deficient GBM and showed that loss of ATRX reduces median survival and increases genetic instability. 26936505 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease 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
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 AlteredExpression disease BEFREE In our cohort, low ATRX mRNA expression was detected in 68% of astrocytomas, 50% of anaplastic astrocytomas and 41.6% of glioblastomas. 24810474 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE We recently identified frequent alterations in chromatin remodelling pathways including recurrent mutations in H3F3A and mutations in ATRX (α-thalassemia/mental-retardation-syndrome-X-linked) in pediatric and young adult glioblastoma (GBM, WHO grade IV astrocytoma). 22886134 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation disease BEFREE ATRX is frequently mutated in grade II-III astrocytomas (71%), oligoastrocytomas (68%), and secondary glioblastomas (57%), and ATRX mutations are associated with IDH1 mutations and with an alternative lengthening of telomeres phenotype. 22869205 2012