NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Glioblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 Biomarker disease BEFREE L1CAM regulates DNA damage checkpoint response of glioblastoma stem cells through NBS1. 21297581 2011
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 GeneticVariation disease BEFREE The presence of two potentially pathogenic NBN molecular variants among 16 glioblastoma cases (12.5%) could be a remarkable finding in our study. 19629396 2010
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 GeneticVariation disease BEFREE These results suggest that multiple TP53 mutations in glioblastomas are due to deficient repair of DNA double-strand breaks caused by mutational inactivation of the NBS1 gene. 19151620 2009
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 Biomarker disease BEFREE Together with the evidence that H2AX transfection does not affect growth activities of non-tumor cells under genotoxic stimuli, this suggests that H2AX gene transfer would provide a new modality for radio-chemotherapy for glioblastomas, probably through overcoming the instability of the genome, and that Brca1 and Nbs1 might be crucial in this methodology. 12851679 2003