The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
about
Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cellsNeogenin interacts with hemojuvelin through its two membrane-proximal fibronectin type III domainsCD81 promotes both the degradation of transferrin receptor 2 (TfR2) and the Tfr2-mediated maintenance of hepcidin expressionMutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosisA mouse model of juvenile hemochromatosis.Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosisThe liver-specific microRNA miR-122 controls systemic iron homeostasis in miceHereditary hemochromatosis in the post-HFE eraPathophysiology of hereditary hemochromatosisAutosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) geneRecent advances in understanding haemochromatosis: a transition stateAllele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama populationImpact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological dataHepcidin: regulation of the master iron regulatorRegulation of Iron Metabolism by Hepcidin under Conditions of InflammationMechanistic and regulatory aspects of intestinal iron absorptionPharmacology of iron transportMechanisms of mammalian iron homeostasisModulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approachesTransferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse.Hepcidin expression in the liver: relatively low level in patients with chronic hepatitis CComparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFEEffects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosisChanges in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the ratLack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout miceThe global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.Effects of iron loading on muscle: genome-wide mRNA expression profiling in the mouseStoichiometries of transferrin receptors 1 and 2 in human liverAltered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis.Characterization of the interaction between diferric transferrin and transferrin receptor 2 by functional assays and atomic force microscopy.Anemic copper-deficient rats, but not mice, display low hepcidin expression and high ferroportin levels.Targeting iron metabolism in drug discovery and deliveryTransferrin receptor 2 is frequently and highly expressed in glioblastomasHepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.Pathophysiological consequences and benefits of HFE mutations: 20 years of research.Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis.Molecular mechanisms of hepcidin regulation: implications for the anemia of CKD.A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.Intracellular iron transport and storage: from molecular mechanisms to health implications.
P2860
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P2860
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@ast
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@en
type
label
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@ast
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@en
prefLabel
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@ast
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@en
P2093
P2860
P356
P1433
P1476
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
@en
P2093
C Camaschella
M De Gobbi
N Majorano
P Gasparini
P2860
P2888
P356
10.1038/75534
P407
P577
2000-05-01T00:00:00Z