|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084.
|
30536387 |
2019 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for HJV variants should thus be performed for all patients displaying a non-p.Cys282Tyr homozygous HFE hemochromatosis with hepcidin deficiency phenotype.
|
30389309 |
2019 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin.
|
29752985 |
2018 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Hepcidin agonists are a new class of compounds that regulate blood iron levels, limit iron absorption, and could improve the treatment of hemochromatosis, β-thalassemia, polycythemia vera, and other disorders in which disrupted iron homeostasis causes or contributes to disease.
|
29523504 |
2018 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis.
|
29454332 |
2018 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in SLC40A1 (also known as FPN1; encoding ferroportin) that prevent hepcidin-ferroportin binding also cause haemochromatosis.
|
29620054 |
2018 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hjv<sup>-/-</sup> mice recapitulate phenotypic hallmarks of hemochromatosis but exhibit blunted hepcidin induction following lipopolysaccharide (LPS) administration.
|
30213871 |
2018 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Altered levels of extracellular hepcidin lead to pathological conditions such as hemochromatosis and iron loading or, on the other side, iron restrictive anemias.
|
27867027 |
2017 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The mainstay of the treatment remains venesection therapy with the perspective of hepcidin supplementation for hepcidin deprivation-related HC.
|
29158016 |
2017 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Suppression of hepcidin expression occurs physiologically in iron deficiency and increased erythropoiesis but is pathologic in thalassemia and hemochromatosis.
|
28864822 |
2017 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed.
|
28514781 |
2017 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The model was able to simulate anemia when hepcidin was increased but was unable to simulate hemochromatosis when hepcidin was suppressed, suggesting that in high iron conditions additional regulatory interactions are important.
|
28521769 |
2017 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, increased intracellular iron content in recombinant cells did not increase hepcidin responses compared to wild-type cells, resembling hemochromatosis.
|
27667164 |
2016 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysregulation of hepcidin leads to altered iron homeostasis and development of pathological disorders including hemochromatosis, and iron loading and iron restrictive anemias.
|
26669208 |
2016 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin.
|
26975792 |
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 |
Biomarker
|
disease |
BEFREE |
The update on hepcidin centered mechanisms of iron metabolism and their clinical perspective in hemochromatosis will be discussed in this review.
|
25737209 |
2015 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Due to the central pathogenic role of hepcidin, it is anticipated that nongenetic causes of hepcidin loss (eg, end-stage liver disease) can cause acquired forms of hemochromatosis.
|
26164493 |
2015 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis.
|
23775519 |
2014 |
|
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 |
BEFREE |
Hepcidin, the pivotal regulator of iron metabolism, plays a critical role in multiple diseases including anemia of chronic disease and hemochromatosis.
|
23700338 |
2013 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
An excess of visceral adipose tissue could be involved as a modulator of the penetrance of HFE hemochromatosis since fat mass is associated with overexpression of hepcidin and low transferrin saturation was found to be associated with being overweight in women.
|
23322654 |
2013 |
|
Hemochromatosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Five SNPs in 4 genes were assessed: hemochromatosis (HFE: C282Y, H63D), ferroportin (FPN1: -8CG), hepcidin (HEPC: -582AG), and transferrin (TF: P570S).
|
22883388 |
2012 |
|
Hemochromatosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Hepcidin is the central regulator of body iron homeostasis, and dysregulation of hepcidin expression causes various clinical disorders, such as anemia and hemochromatosis.
|
23179904 |
2012 |
|
Hemochromatosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations in hemochromatosis protein (HFE) or transferrin receptor 2 (TFR2) cause hereditary hemochromatosis (HH) by impeding production of the liver iron-regulatory hormone, hepcidin (HAMP).
|
22383097 |
2012 |