|
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Liver volume, peripheral hemogram, bone marrow pathology, serum iron, serum ferritin, pathological iron deposition in multiple organs (liver, bone marrow, spleen), liver hepcidin, and bone morphogenetic protein 6 (BMP6), SMAD family member 4 (SMAD4) and transferrin receptor 2 (TfR2) mRNA expression levels were compared among the normal control, AA, iron overload and composite model groups to validate the composite model, and explore the pathogenesis and features of iron overload in this model.
|
29434729 |
2018 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
|
12130528 |
2002 |
|
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Transferrin receptor 2 is primarily expressed in the liver but it is unclear how mutant forms cause iron overload.
|
12382200 |
2002 |
|
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
No mutations were found in the other hemochromatosis genes, hepcidin, HFE, ferroportin or transferrin receptor 2, which might have contributed to her iron overload.
|
16424663 |
2006 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, we also tested for this TFR2 mutation 20 H63D homozygotes with milder manifestations of iron overload and no acquired cause of iron overload.
|
11358390 |
2001 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The transferrin receptor 2 (TFR2) and hereditary hemochromatosis (HFE) genes were examined to see if inheritance of these gene defects may be a possible cause of iron overload in 45 HbH patients.
|
12667993 |
2004 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
|
16923517 |
2006 |
|
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In contrast, TfR2 levels were reduced in hypotransferrinemic mice despite liver iron overload, supporting the idea that regulation of the receptor is dependent on Tf.
|
15319276 |
2004 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease.
|
12547237 |
2003 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, the identification of the haemochromatosis gene (HFE) and more recently the transferrin receptor 2 gene (TfR2) together with the specific mutations in these genes which result in hepatic iron overload, has enhanced our understanding of the pathophysiology of haemochromatosis.
|
11886477 |
2002 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hepcidin deficiency underlies iron overload in HFE-hemochromatosis as well as in several other genetic iron excess disorders, such as hemojuvelin or hepcidin-related hemochromatosis and transferrin receptor 2-related hemochromatosis.
|
21862411 |
2011 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in the transferrin receptor-2 gene were not responsible for the iron overload seen in our subjects.
|
11358389 |
2001 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This Clinical Practice Guideline will therefore, focus on HFE-HC, while rarer forms of genetic iron overload recently attributed to pathogenic mutations of transferrin receptor 2, (TFR2), hepcidin (HAMP), hemojuvelin (HJV), or to a sub-type of ferroportin (FPN) mutations, on which limited and sparse clinical and epidemiologic data are available, will not be discussed.
|
20471131 |
2010 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We thus detected the novel TFR2 missense mutation I449V (exon 10; nt 1345 A --> G) in the proband's wife and daughter, neither of whom had anemia or iron overload.
|
16540354 |
2006 |
|
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload.
|
11673399 |
2001 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The simultaneous detection of 18 known HFE, TFR2 and FPN1 mutations and sequencing of the HAMP gene were performed to rule out the possible existence of genetic modifier factors related with iron overload.
|
17042772 |
2007 |
|
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To determine the potential role for TfR2 in iron uptake by liver, we investigated TfR and TfR2 expression in normal mice and murine models of dietary iron overload (2% carbonyl iron), dietary iron deficiency (gastric parietal cell ablation), and HH (HFE -/-).
|
10681454 |
2000 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene.
|
18245657 |
2008 |
|
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
In mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2), and hemojuvelin (Hjv) (which all sense the accumulation of iron that hepcidin corrects) or ferroportin (Fpn) (the cellular iron exporter down-regulated by hepcidin), cause iron overload but not organ disease.
|
20542038 |
2010 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The identification of new mutations of TFR2 confirms that this gene is associated with iron overload and offers a tool for molecular diagnosis in patients without HFE mutations.
|
11313241 |
2001 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload.
|
11358388 |
2001 |
|
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
An HFE-independent pathway that seems to involve TFR2 and HJV can regulate HAMP expression under conditions of iron overload.
|
16103673 |
2005 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
|
16424658 |
2006 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, we suggest that iron overload phenotypes associated with mutations in TFR2 may be intermediate between those related to mutations in HFE and those related to mutations in juvenile hemochromatosis genes.
|
15147384 |
2004 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in TfR2 cause systemic iron overload, hemochromatosis, through down-regulation of hepcidin.
|
29969719 |
2019 |