|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Hjv and TfR2 gene cause hemochromatosis.
|
16932966 |
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 |
New TFR2 mutations in young Italian patients with hemochromatosis.
|
18245657 |
2008 |
|
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Mutations of TfR2 in humans cause type 3 hereditary hemochromatosis.
|
17241880 |
2007 |
|
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 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis.
|
11551099 |
2001 |
|
Hemochromatosis
|
0.400 |
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 |
|
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 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 |
GeneticVariation
|
disease |
BEFREE |
No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis.
|
12064925 |
2003 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.
|
28276324 |
2017 |
|
Hemochromatosis
|
0.400 |
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 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TfR2 result in hemochromatosis, indicating that this receptor has a unique role in iron metabolism.
|
15317665 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.
|
21770687 |
2011 |
|
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 |
The implications of this observation for the understanding of the phenotypic features of haemochromatosis due to mutation of the TFR2 gene are discussed.
|
15084147 |
2004 |