|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transcription of the hepatic hormone hepcidin, but its role in the pathogenesis of iron overload disorders is controversial.
|
23144979 |
2012 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system.
|
22297252 |
2012 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis.
|
19286879 |
2009 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hemojuvelin (HJV) is a bone morphogenetic protein co-receptor that has been identified as a main upstream regulator of hepcidin expression; HJV mutations are associated with a severe form of iron overload (Juvenile haemochromatosis).
|
22998440 |
2012 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Nerve growth factor-beta (NGF-β)-differentiated PC12 cells, used as a model of neuronal cells, were evaluated in terms of their viability and expression of ferroportin after inducing cellular iron overload with ferric ammonium citrate (FAC) or hepcidin, iron deficiency with deferoxamine (DFO), or hepcidin in combination with FAC or DFO.
|
30027341 |
2019 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Based on a digenic model of inheritance, these data suggest that the association of heterozygous mutations in the HFE and HAMP genes could lead, at least in some cases, to an adult-onset form of primary iron overload.
|
14670915 |
2004 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload.
|
11836175 |
2002 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HAMP gene mutations have been described to date in five families with iron overload.
|
15024747 |
2004 |
|
Iron Overload
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In moderate disease, no independent predictors of hepcidin were identifiable; nevertheless, the low hepcidin levels indicate a significant risk for iron overload.
|
25519750 |
2015 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hemojuvelin (HJV) positively modulates the iron regulator hepcidin, and its mutations are the major cause of juvenile hemochromatosis (JH), a recessive disease leading to iron overload.
|
17264300 |
2007 |
|
Iron Overload
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
|
21039223 |
2010 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease.
|
15986403 |
2005 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In humans, this could explain that low levels of hepcidin found during juvenile haemochromatosis and HFE-1 genetic haemochromatosis are associated with an iron overload phenotype.
|
15974953 |
2005 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
|
19734422 |
2009 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have detected two new HAMP mutations in two different families, in which there is concordance between severity of iron overload and heterozygosity for HAMP mutations when present with the HFE C282Y mutation.
|
12915468 |
2003 |
|
Iron Overload
|
0.600 |
GeneticVariation
|
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The S338R mutation results in a mutated ferroportin associated with iron overload and is predicted insensitive to regulation by the iron regulatory hormone hepcidin.
|
17383046 |
2007 |
|
Iron Overload
|
0.600 |
Biomarker
|
disease |
BEFREE |
These findings demonstrate a molecular link between hepatic hepcidin and intestinal HIF-2α that controls physiological iron uptake and drives iron hyperabsorption during iron overload.
|
30352047 |
2019 |
|
Iron Overload
|
0.600 |
Biomarker
|
disease |
BEFREE |
Furthermore, a deregulation of hepcidin may cause elevated intestinal iron absorption that hallmarks a group of frequent iron overload disorders, the Hereditary Hemochromatosis.
|
16203112 |
2005 |
|
Iron Overload
|
0.600 |
Biomarker
|
disease |
BEFREE |
We also showed that ERFE contributes to pathological hepcidin suppression and iron overload in mice with nontransfused β-thalassemia.
|
28739636 |
2017 |
|
Iron Overload
|
0.600 |
Biomarker
|
disease |
BEFREE |
The aim of this study is to determine the clinical relevance of hepatic producing iron regulatory hormone-hepcidin, on iron overload in patients with chronic hepatitis C (CHC).
|
18620776 |
2008 |
|
Iron Overload
|
0.600 |
Biomarker
|
disease |
BEFREE |
Now, as the main source of hepcidin, it appears that the loss of the hepcidin-producing liver mass or genetic and acquired factors that repress hepcidin synthesis in the liver may also lead to iron overload.
|
26725908 |
2016 |