|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in TfR2 cause systemic iron overload, hemochromatosis, through down-regulation of hepcidin.
|
29969719 |
2019 |
|
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 |
The tfr2 mutant model in zebrafish recapitulates the defining features of HH3: iron overload and suppression of hepcidin, the iron regulatory hormone.
|
29897731 |
2018 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Type 3 hereditary haemochromatosis (HH) is a rare iron overload disorder caused by variants in the transferrin 2 receptor (TFR2) gene.
|
28276324 |
2017 |
|
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
|
24055163 |
2014 |
|
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 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis.
|
18094142 |
2008 |
|
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 |
Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH).
|
17098454 |
2007 |
|
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 |
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 |
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 |
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 |
Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2.
|
16493621 |
2006 |
|
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 |
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 |
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 |
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 |
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload.
|
15020277 |
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 |
Biomarker
|
disease |
BEFREE |
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
|
14633868 |
2003 |