|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Hjv<sup>-/-</sup> mice recapitulate phenotypic hallmarks of hemochromatosis but exhibit blunted hepcidin induction following lipopolysaccharide (LPS) administration.
|
30213871 |
2018 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin.
|
29752985 |
2018 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described.
|
27896572 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
|
25976471 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis.
|
23775519 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Our aims were: a. to measure hepcidin expression at either hepatic, serum and urinary level in three paradigmatic iron overload conditions (hemochromatosis, thalassemia and dysmetabolic iron overload syndrome) and in controls; b. to measure mRNA hepcidin expression in two different hepatic cell lines (HepG2 and Huh-7) exposed to patients and controls sera to assess whether circulating factors could influence hepcidin transcription in different pathological conditions.
|
22586470 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis.
|
22297252 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.200 |
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, TYPE 1
|
0.200 |
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 |