|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22.
|
11778658 |
2002 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations of TfR2 in humans cause type 3 hereditary hemochromatosis.
|
17241880 |
2007 |
|
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 |
This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
|
15749661 |
2005 |
|
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 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 |
Biomarker
|
disease |
BEFREE |
Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.
|
10802645 |
2000 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Using quantitative RT-PCR, the iron-dependent hepatic expression patterns of HAMP, HJV, and TFR2 were evaluated in human and murine HFE-related hemochromatosis.
|
16103673 |
2005 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The identification of HFE, the principal determinant of adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently implicated in a rarer form of the inherited disorder (HFE3; OMIM 604250), and the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal haemochromatosis (OMIM 231100) provide the foundation for important studies into the control mechanism of iron balance in humans.
|
11005792 |
2000 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay.
|
12681966 |
2003 |
|
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 |
Biomarker
|
disease |
LHGDN |
This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
|
15749661 |
2005 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Four genes are responsible for the distinct types of non-HFE haemochromatosis: hepcidin and hemojuvelin are the genes involved in type 2 or juvenile haemochromatosis, transferrin receptor 2 is involved in type 3 haemochromatosis, and ferroportin 1 is mutated in type 4, the atypical dominant form of primary iron overload.
|
15737887 |
2005 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Hjv and TfR2 gene cause hemochromatosis.
|
16932966 |
2007 |
|
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 |
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 |
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 |
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 |