TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 GeneticVariation disease BEFREE We observed an increased total iron content in G93A-SOD1 SH-SY5Y neuroblastoma cells compared to wild-type (WT)-SOD1 cells. mRNA expression for transferrin receptor 1 (TfR1) and divalent metal transporter 1 was increased in G93A-SOD1 cells, which was in accordance with higher iron uptake. 23178912 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 Biomarker disease BEFREE Treatment of SH-SY5Y (human neuroblastoma) cells with an iron chelator resulted in increased density of A(2A)R. In these cells, A(2A)R agonist-induced cyclic AMP production was enhanced in response to iron chelation, also demonstrating a functional upregulation of A(2A)R. A significant correlation (r(2)=0.79) was found between a primary marker of cellular iron status (transferrin receptor (TfR)) and A(2A)R protein density. 19013457 2009
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 AlteredExpression disease BEFREE EGCG exhibited potent iron-chelating activity comparable to that of the prototype iron chelator desferrioxamine, and dose dependently (1-10 microm) increased TfR protein and mRNA levels in human SH-SY5Y neuroblastoma cells. 16539659 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 Biomarker disease BEFREE Overall, these results suggest that MPP(+)-induced cell death in CGNs and neuroblastoma cells proceeds via apoptosis and involves mitochondrial release of ROS and TfR-dependent iron. 12523938 2003