A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
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Neogenin interacts with hemojuvelin through its two membrane-proximal fibronectin type III domainsMutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosisA mouse model of juvenile hemochromatosis.Hereditary hemochromatosis in the post-HFE eraHepcidin revisited, disulfide connectivity, dynamics, and structureRecent advances in understanding haemochromatosis: a transition stateHaemochromatosisImpact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological dataZebrafish: an important tool for liver disease researchHepcidin: regulation of the master iron regulatorThe study of psychiatric disease genes and drugs in zebrafishIntestinal expression of genes involved in iron absorption in humansFerroportin (Q248H) mutations in African families with dietary iron overloadZebrafish 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 encephalopathyHuman macrophage ferroportin biology and the basis for the ferroportin disease.Targeting iron metabolism in drug discovery and deliveryFerroportin1 is required for normal iron cycling in zebrafishPathophysiological consequences and benefits of HFE mutations: 20 years of research.Intracellular iron transport and storage: from molecular mechanisms to health implications.Sequence variation and haplotype structure at the human HFE locus.Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.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 disordersNovel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.Physiology of iron transport and the hemochromatosis gene.Haemochromatosis: understanding the mechanism of disease and implications for diagnosis and patient management following the recent cloning of novel genes involved in iron metabolism.Non-HFE haemochromatosis.Natural history of juvenile haemochromatosis.Molecular pathogenesis of iron overload.Iron and carcinogenesis: from Fenton reaction to target genes.Iron transport: emerging roles in health and disease.Hypoxia-inducible factor-2α mediates the adaptive increase of intestinal ferroportin during iron deficiency in miceHereditary hemochromatosis: perspectives of public health, medical genetics, and primary care.Lessons from liver transplantation: flip, flop, and why?Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.
P2860
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P2860
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին 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
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@ast
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@en
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@nl
type
label
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@ast
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@en
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@nl
prefLabel
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@ast
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@en
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@nl
P2093
P356
P1433
P1476
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
@en
P2093
B A Oostra
B Berghuis
J W van Dongen
L A Sandkuijl
M H Breuning
O T Njajou
P J Snijders
P2888
P356
10.1038/90038
P407
P577
2001-07-01T00:00:00Z
P5875
P6179
1035311505