|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide an unprecedented view of the human FPN1 outward-facing structure and the particular function of the so-called "gating residues" in the mechanism of iron export.-Guellec, J., Elbahnsi, A., Le Tertre, M., Uguen, K., Gourlaouen, I., Férec, C., Ka, C., Callebaut, I., Le Gac, G. Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
|
31690120 |
2019 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Non-mutagenic Suppression of Enterocyte Ferroportin 1 by Chemical Ribosomal Inactivation via p38 Mitogen-activated Protein Kinase (MAPK)-mediated Regulation: EVIDENCE FOR ENVIRONMENTAL HEMOCHROMATOSIS.
|
27445333 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B).
|
24714983 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
|
22890139 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The second subgroup of hemochromatosis is caused by autosomal dominant mutations in the SLC40A1 gene encoding the iron exporter ferroportin with distinctive features.
|
19907151 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype).
|
17997113 |
2008 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that this patient represents a unique example of hemochromatosis due to a single base-pair mutation of SLC40A1 that results in aberrant splicing and truncation of ferroportin.
|
18160816 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We used a standard 96-well microplate with a single PCR condition in an adaptation of the SCAIP (single-condition amplification with internal primer) method to sequence the HFE (hemochromatosis), HAMP (hepcidin antimicrobial peptide), HFE2/HJV [hemochromatosis type 2 (juvenile)], SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2) genes, and the 5' untranslated region of the FTL (ferritin, light polypeptide) gene.
|
17951290 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN).
|
15692071 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified.
|
15935710 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the iron exporter ferroportin (Fpn) (IREG1, SLC40A1, and MTP1) result in hemochromatosis type IV, a disorder with a dominant genetic pattern of inheritance and heterogeneous clinical presentation.
|
15956209 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.
|
12547233 |
2003 |