Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
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Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasisPro-protein convertases control the maturation and processing of the iron-regulatory protein, RGMc/hemojuvelinRepulsive guidance molecule RGMa alters utilization of bone morphogenetic protein (BMP) type II receptors by BMP2 and BMP4Neogenin interacts with hemojuvelin through its two membrane-proximal fibronectin type III domainsHemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overloadBone morphogenetic protein signaling by hemojuvelin regulates hepcidin expressionCD81 promotes both the degradation of transferrin receptor 2 (TfR2) and the Tfr2-mediated maintenance of hepcidin expressionA time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosisA mouse model of juvenile hemochromatosis.IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidinConserved proximal promoter elements control repulsive guidance molecule c/hemojuvelin (Hfe2) gene transcription in skeletal muscleThe liver-specific microRNA miR-122 controls systemic iron homeostasis in miceHereditary hemochromatosis in the post-HFE eraSoluble hemojuvelin is released by proprotein convertase-mediated cleavage at a conserved polybasic RNRR sitePathophysiology of hereditary hemochromatosisNeogenin-mediated hemojuvelin shedding occurs after hemojuvelin traffics to the plasma membraneRecent advances in understanding haemochromatosis: a transition stateModulation of bone morphogenetic protein signaling in vivo regulates systemic iron balanceAllele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama populationTotal blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes.Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological dataHepcidin: regulation of the master iron regulatorThe hepcidin-ferroportin system as a therapeutic target in anemias and iron overload disordersRegulation of Iron Metabolism by Hepcidin under Conditions of InflammationMechanistic and regulatory aspects of intestinal iron absorptionHepcidin and iron homeostasisMurine mutants in the study of systemic iron metabolism and its disorders: an update on recent advancesMechanisms of mammalian iron homeostasisModulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approachesBmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?BMP signaling modulates hepcidin expression in zebrafish embryos independent of hemojuvelinAccelerated CCl4-induced liver fibrosis in Hjv-/- mice, associated with an oxidative burst and precocious profibrogenic gene expressionIron-dependent regulation of hepcidin in Hjv-/- mice: evidence that hemojuvelin is dispensable for sensing body iron levelsStructure of the Repulsive Guidance Molecule (RGM)-Neogenin Signaling HubMolecular basis of HFE-hemochromatosis.Hepcidin and iron regulation, 10 years later.The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelinMolecular biology, genetics and biochemistry of the repulsive guidance molecule familySelective binding of RGMc/hemojuvelin, a key protein in systemic iron metabolism, to BMP-2 and neogeninIron imports. I. Intestinal iron absorption and its regulation
P2860
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P2860
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
description
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2004
@ast
im November 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 2004)
@en
vedecký článok (publikovaný 2004-01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd in 2004-01)
@nl
наукова стаття, опублікована в січні 2004
@uk
name
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@ast
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@en
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@nl
type
label
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@ast
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@en
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@nl
prefLabel
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@ast
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@en
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
@en
P2093
Catherine Zaborowska
Christopher C Radomski
Elizabeta Nemeth
Erwin H Ludwig
Gillian Lockitch
Jay Thompson
Jenni K Risler
John Christakis
Julie MacFarlane
Lisa Andres
P2888
P3181
P356
10.1038/NG1274
P407
P577
2003-11-30T00:00:00Z