In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
about
A mouse model of juvenile hemochromatosis.Hereditary hemochromatosis in the post-HFE eraThe 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 descentIroning out FerroportinInvestigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.Human macrophage ferroportin biology and the basis for the ferroportin disease.Functional properties of human ferroportin, a cellular iron exporter reactive also with cobalt and zinc.Human mutation D157G in ferroportin leads to hepcidin-independent binding of Jak2 and ferroportin down-regulation.Pathophysiological consequences and benefits of HFE mutations: 20 years of research.The molecular basis of ferroportin-linked hemochromatosis.Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children.Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Non-HFE hemochromatosisHemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyNovel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).Hepcidin induces HIV-1 transcription inhibited by ferroportinHepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin.Hepcidin--central regulator of iron metabolism.Iron imports. III. Transfer of iron from the mucosa into circulation.Evidence for the multimeric structure of ferroportin.Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin.The molecular mechanism of hepcidin-mediated ferroportin down-regulation.Ferroportin Q248h, dietary iron, and serum ferritin in community African-Americans with low to high alcohol consumption.Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.Zebrafish as a model for defining the functional impact of mammalian ferroportin mutations.Liver iron transportThe molecular genetics of haemochromatosis.Iron overload due to mutations in ferroportin.Lipocalin-2 ensures host defense against Salmonella Typhimurium by controlling macrophage iron homeostasis and immune responseThe ins and outs of iron homeostasis.Forging a field: the golden age of iron biology.Role of cellular iron and oxygen in the regulation of HIV-1 infection.Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations.Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2.The molecular basis of hepcidin-resistant hereditary hemochromatosis.Regulation of iron absorption in hemoglobinopathies.The Regulation of Iron Absorption and Homeostasis.Zebrafish in the sea of mineral (iron, zinc, and copper) metabolism.
P2860
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P2860
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
In vitro functional analysis o ...... tosis-associated FPN mutations
@ast
In vitro functional analysis o ...... tosis-associated FPN mutations
@en
In vitro functional analysis o ...... tosis-associated FPN mutations
@nl
type
label
In vitro functional analysis o ...... tosis-associated FPN mutations
@ast
In vitro functional analysis o ...... tosis-associated FPN mutations
@en
In vitro functional analysis o ...... tosis-associated FPN mutations
@nl
prefLabel
In vitro functional analysis o ...... tosis-associated FPN mutations
@ast
In vitro functional analysis o ...... tosis-associated FPN mutations
@en
In vitro functional analysis o ...... tosis-associated FPN mutations
@nl
P2093
P1433
P1476
In vitro functional analysis o ...... tosis-associated FPN mutations
@en
P2093
Alison T Merryweather-Clarke
Diana Cowley
Emma Sweetland
Hal Drakesmith
Jon P Edwards
Judy M Bastin
Kathryn J H Robson
Lisa M Schimanski
Vip Viprakasit
Yingyong Chinthammitr
P304
P356
10.1182/BLOOD-2004-11-4502
P407
P577
2005-02-03T00:00:00Z