NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Central neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 GeneticVariation disease BEFREE Multifocal primary neuroblastoma tumor heterogeneity in siblings with co-occurring PHOX2B and NF1 genetic aberrations. 31515834 2020
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE As neurofibromin activity is a key to regulating the RAS/MAPK pathway, NF1 mutations are important in the acquisition of drug resistance, to BRAF, EGFR inhibitors, tamoxifen and retinoic acid in melanoma, lung and breast cancers and neuroblastoma. 28637487 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE NF1 protein levels in neuroblastoma cell lines were determined using Western blot assays. 26925841 2016
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE To this end, short-term parallel cultures of SK-NF-I neuroblastoma cells were treated with TSA either alone or in combination with hypoxia, and mRNA levels of dopamine receptor D3 (DRD3) and D4 (DRD4), dopamine transporter (DAT), dopamine hydroxylase (DBH), dopamine receptor regulating factor (DRRF), catechol-O-methyltransferase (COMT), serotonin receptor 1A (HTR1A), monoamino oxidase A (MAO-A), serotonin transporter (SLC6A4) and tryptophan hydroxylase 2 (TPH2) were determined by quantitative PCR. 21785940 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE 12-O-tetradecanoyl-phorbol-13-acetate-dependent up-regulation of dopaminergic gene expression requires Ras and neurofibromin in human IMR-32 neuroblastoma. 16635257 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Lysates from Drosophila S2 cells expressing exogenous Sp1, Sp3, and NF-1 proteins were able to partially mimic gel shift complexes seen with neuroblastoma nuclear extract and either wild type or mutant probes. 14567977 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE In pPNET cells levels of type 1 GAP120 but not neurofibromin mRNA were increased to similar levels to those in neuroblastoma cells. 9619634 1998
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Recent publications have indicated that the NF1 gene can be rearranged in neuroblastoma cell lines. 9169039 1997
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE However, the GTPase activating proteins type I GAP120 and neurofibromin may have effector functions in RA-induced differentiation of neuroblastoma. 7576949 1995
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines. 8516298 1993
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE Here we report that 4 out of 10 human neuroblastoma lines express little or no neurofibromin and that two of these lines show evidence of NF1 mutations, providing further proof that NF1 mutations occur in tumours that are not commonly found in NF1 patients. 8490657 1993