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: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Iron accumulation after SCI resulted in the upregulation of transferrin receptor (TfR) and divalent metal transporter1 (DMT1), which exacerbated the intracellular iron overload. 31518742 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE Knockdown of ABCB7 in H9C2 cells and stimulation with angiotensin II resulted in increased ROS levels, ferritin, and transferrin receptor expression and iron overload in both mitochondria and cytoplasm. 31511561 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Transferrin Receptor 1 was decreased as expected, following iron overload. 30321179 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Low hepcidin/ferritin ratio and elevated soluble transferrin receptor detected in our GPI-deficient patients suggest disturbed balance between erythropoiesis and iron metabolism contributing to iron overload. 28803808 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the abnormal recycling of transferrin receptor (TfR1) and the reduction of TfR1 palmitoylation in NBIA. 29395073 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE In addition, significantly up-regulated expression of FtH and FtL mRNA, and markedly down-regulated expression of Tfr1, Dmt1 + IRE and Ireg1 mRNA, were observed in the iron overload group compared with the control group. 30027360 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia. 28707012 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Since the number of TfR1 molecules at the cell surface is the rate-limiting step for iron entry into cells and is essential to prevent iron overload, TfR1 expression is precisely controlled at multiple levels. 28671201 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE These findings strongly suggest that overexpressed TfR1 may play a regulatory role contributing to iron overload and anemia in β-thalassemic mice. 28151426 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Type 2 transferrin receptor (TFR2) participates in cellular iron overload and is related to cardiovascular disease. 23751596 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE It was found that long-lasting hyperinsulinemia significantly increased TFR1 expression in the liver and induced mild-to-moderate hepatic iron overload, which was accompanied by a normal level of serum iron. 25385842 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE We assessed the degree of iron overload in thalassemia intermedia and major patients by measuring hepatic iron concentration in liver biopsy samples and serum ferritin, estimated erythropoietic drive by assaying soluble transferrin receptor and serum erythropoietin levels and correlated these with urinary hepcidin measurements. 17488680 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE For example, transferrin receptor, a gene known to control cellular iron uptake, was downregulated in the cells treated with the iron-containing PA coal in order to protect cells from iron overload. 12851122 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 GeneticVariation disease BEFREE This study confirms the high frequency of HFE mutations in patients with PCT and supports the hypothesis that HFE gene abnormalities might play a significant part in the PCT pathomechanism, probably through iron overload; by contrast, transferrin receptor polymorphisms do not appear to play a significant part in iron overload in PCT. 11260010 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE From these observations, we propose that TfR2 allows continued uptake of Tf-bound iron by hepatocytes even after TfR has been down-regulated by iron overload, and this uptake contributes to the susceptibility of liver to iron loading in HH. 10681454 2000
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE We investigated whether the soluble transferrin receptor (TfR) level was related to the degree of iron overload in 20 patients with thalassaemia intermedia, six patients with congenital dyserythropoietic anaemia type II (CDA II) and four patients with X-linked congenital sideroblastic anaemia (XLSA). 10468869 1999
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE The pattern is reverted under iron overload: IRP-mRNA binding affinity is reduced, which results in efficient protein synthesis of target transcripts harboring IREs in the 5'-UTR and rapid degradation of TfR mRNA. 10592329 1999
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE Early in the course of genetic haemochromatosis and before the onset of hepatic fibrosis, transferrin receptor-mediated iron uptake by hepatocytes contributes to hepatic iron overload. 9715407 1998
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE The present investigation evaluated the serum transferrin receptor concentration in subjects with nontransfusional iron overload who were identified in two separate studies on the basis of a serum ferritin level above 400 micrograms/L. 8178799 1994
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 Biomarker disease BEFREE In this study we simultaneously analyzed the hepatic content of transferrin, transferrin receptor and heavy and light ferritin subunit messenger RNAs in tissue samples obtained from subjects with normal iron balance and patients with primary or secondary iron overload. 1959858 1991
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.100 AlteredExpression disease BEFREE In the present study we used immunohistochemical techniques to study transferrin-receptor expression in the gastrointestinal epithelium in normal subjects and patients with iron overload. 2179037 1990