Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene - Test2 - elhamkhani - TriplyDB

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

http://www.wikidata.org/entity/Q24671532

about

A mouse model of juvenile hemochromatosis.Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis Hereditary hemochromatosis in the post-HFE era Ferroportin is a manganese-responsive protein that decreases manganese cytotoxicity and accumulation Hepcidin revisited, disulfide connectivity, dynamics, and structure Recent advances in understanding haemochromatosis: a transition state The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent Haemochromatosis Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data Hepcidin: regulation of the master iron regulator Pharmacology of iron transport Mechanisms of mammalian iron homeostasis Mechanisms of divalent metal toxicity in affective disorders Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis The European Hematology Association Roadmap for European Hematology Research: a consensus document Zebrafish 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 mouse Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy Hepcidin 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 liver Evolutionary mutant models for human disease Targeting iron metabolism in drug discovery and delivery Ferroportin1 is required for normal iron cycling in zebrafish Hepatocyte-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 haploinsufficiency Normal iron metabolism and the pathophysiology of iron overload disorders EMQN 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

http://www.wikidata.org/entity/Q24671532

description

2001 nî lūn-bûn

@nan

2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի օգոստոսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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type

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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P1433

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P1433

Journal of Clinical Investigation

P1476

Autosomal-dominant hemochromat ...... the ferroportin (SLC11A3) gene

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P2093

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P2860

Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

A novel mammalian iron-regulated protein involved in intracellular iron metabolism

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation

Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo

Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE

Geography of HFE C282Y and H63D mutations

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

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10.1172/JCI13468

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4

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108

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