Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
about
A mouse model of juvenile hemochromatosis.Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosisHereditary hemochromatosis in the post-HFE eraFerroportin is a manganese-responsive protein that decreases manganese cytotoxicity and accumulationHepcidin revisited, disulfide connectivity, dynamics, and structureRecent advances in understanding haemochromatosis: a transition stateThe flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin diseaseSLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descentHaemochromatosisImpact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological dataHepcidin: regulation of the master iron regulatorPharmacology of iron transportMechanisms of mammalian iron homeostasisMechanisms of divalent metal toxicity in affective disordersAcute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with HaemochromatosisThe European Hematology Association Roadmap for European Hematology Research: a consensus documentZebrafish in hematology: sushi or science?Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.Effects of iron loading on muscle: genome-wide mRNA expression profiling in the mouseNull mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyHepcidin antagonists for potential treatments of disorders with hepcidin excess.Human macrophage ferroportin biology and the basis for the ferroportin disease.Stoichiometries of transferrin receptors 1 and 2 in human liverEvolutionary mutant models for human diseaseTargeting iron metabolism in drug discovery and deliveryFerroportin1 is required for normal iron cycling in zebrafishHepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.Pathophysiological consequences and benefits of HFE mutations: 20 years of research.Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children.Intracellular iron transport and storage: from molecular mechanisms to health implications.Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Zebrafish as a model system for the study of hemostasis and thrombosis.The hemochromatosis protein HFE inhibits iron export from macrophages.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyNormal iron metabolism and the pathophysiology of iron overload disordersEMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).Gene therapy by allele selection in a mouse model of beta-thalassemia.Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.Non-HFE haemochromatosis.Absorption of manganese and iron in a mouse model of hemochromatosis.
P2860
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P2860
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@ast
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@en
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@nl
type
label
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@ast
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@en
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@nl
prefLabel
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@ast
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@en
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@nl
P2093
P2860
P356
P1476
Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene
@en
P2093
A Pietrangelo
C C Trenor
E Pignatti
N C Andrews
P Gasparini
S Cassanelli
P2860
P304
P356
10.1172/JCI13468
P407
P577
2001-08-01T00:00:00Z