|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.
|
28276324 |
2017 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The liver is strongly involved when iron excess is related either to hepcidin deficiency, as in HFE, hemojuvelin, hepcidin, and transferrin receptor 2 related haemochromatosis, or to hepcidin resistance, as in type B ferroportin disease.
|
26596411 |
2016 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in hepcidin and any genes that regulate the biology of hepcidin, including hemochromatosis genes (HFE), Hemojuvelin (HJV), transferring receptor 2 (TFR2) and FPN, result in hemochromatosis.
|
27031690 |
2016 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease).
|
24321703 |
2014 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.
|
25352340 |
2014 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
This study examined the effects of disruption of Hfe or Tfr2, either alone or together, on liver iron loading and injury in mouse models of HH.
|
22383097 |
2012 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The hepcidin response was smaller in C282Y-homozygotes than in controls, barely detectable in the patients with iron-depleted HFE-hemochromatosis and absent in those with TFR2-hemochromatosis.
|
21173098 |
2011 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.
|
21770687 |
2011 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
To screen exon-by-exon DNA sequences of HFE, HJV, HAMP, TFR2 and SLC40A1 genes to characterize the molecular basis of HH in a sample of the Brazilian population.
|
21411349 |
2011 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
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 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP.
|
20863724 |
2010 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The first includes juvenile and TFR2-related hemochromatoses that, similar to HFE hemochromatosis, show recessive inheritance, increased transferrin saturation, iron storage in hepatocytes and responsiveness to phlebotomy.
|
19907151 |
2009 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
New TFR2 mutations in young Italian patients with hemochromatosis.
|
18245657 |
2008 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia.
|
18430498 |
2008 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Hjv and TfR2 gene cause hemochromatosis.
|
16932966 |
2007 |
|
Hemochromatosis
|
0.400 |
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 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations of TfR2 in humans cause type 3 hereditary hemochromatosis.
|
17241880 |
2007 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3.
|
16935854 |
2007 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We used a standard 96-well microplate with a single PCR condition in an adaptation of the SCAIP (single-condition amplification with internal primer) method to sequence the HFE (hemochromatosis), HAMP (hepcidin antimicrobial peptide), HFE2/HJV [hemochromatosis type 2 (juvenile)], SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2) genes, and the 5' untranslated region of the FTL (ferritin, light polypeptide) gene.
|
17951290 |
2007 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations.
|
17886335 |
2007 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor.
|
17124037 |
2006 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2.
|
16424658 |
2006 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.
|
16923517 |
2006 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The genetics of these less common forms was intensively studied between 2000 and 2004, leading to the recognition of haemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin-related haemochromatosis, and opening the way for novel hypotheses such as those related to digenic modes of inheritance or the involvement of modifier genes.
|
16132052 |
2005 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
|
15749661 |
2005 |