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Haemochromatosis

scientific article published on 05 April 2018

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22 March 2020

Haemochromatosis (English)

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22 March 2020

Antonello Pietrangelo

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22 March 2020

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Pierre Brissot

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22 March 2020

Paul C Adams

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22 March 2020

Barbara de Graaff

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22 March 2020

Christine E McLaren

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22 March 2020

Olivier Loréal

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22 March 2020

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5 April 2018

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22 March 2020

Nature Reviews Disease Primers

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22 March 2020

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22 March 2020

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22 March 2020

Geography of HFE C282Y and H63D mutations

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemochromatosis and iron-overload screening in a racially diverse population.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Haemochromatosis gene frequency in a control and diabetic Irish population

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron Intake and Hæmochromatosis in the Bantu

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Dietary iron overload persists in rural sub-Saharan Africa

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron-overload-related disease in HFE hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Identification of New Mutations of the HFE, Hepcidin, and Transferrin Receptor 2 Genes by Denaturing HPLC Analysis of Individuals with Biochemical Indications of Iron Overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Clinical cofactors and hepatic fibrosis in hereditary hemochromatosis: the role of diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Adaptation in iron metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Diet and genetic factors associated with iron status in middle-aged women

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE genotype modifies the influence of heme iron intake on iron status.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Body iron stores and their determinants in healthy postmenopausal US women

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Diet and iron status of nonpregnant women in rural Central Mexico

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Dietary iron intake and serum ferritin concentration in 213 patients homozygous for the HFEC282Y hemochromatosis mutation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Severity of iron overload in hemochromatosis: effect of volunteer blood donation before diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Testosterone perturbs systemic iron balance through activation of epidermal growth factor receptor signaling in the liver and repression of hepcidin

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron metabolism and related genetic diseases: A cleared land, keeping mysteries

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs).

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hypoxia induced downregulation of hepcidin is mediated by platelet derived growth factor BB.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Identification of erythroferrone as an erythroid regulator of iron metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

STAT3 mediates hepatic hepcidin expression and its inflammatory stimulation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Interleukin-6 induces hepcidin expression through STAT3

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Estrogen regulates hepcidin expression via GPR30-BMP6-dependent signaling in hepatocytes

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Transferrin receptor is necessary for development of erythrocytes and the nervous system

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Human NRAMP2/DMT1, which mediates iron transport across endosomal membranes, is localized to late endosomes and lysosomes in HEp-2 cells

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Waiting for frataxin

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The ferritins: molecular properties, iron storage function and cellular regulation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Ferritin: design and formation of an iron-storage molecule

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Determination of non-transferrin-bound iron in genetic hemochromatosis using a new HPLC-based method

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Redox active plasma iron in C282Y/C282Y hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Labile plasma iron in iron overload: redox activity and susceptibility to chelation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The Haber-Weiss cycle--70 years later

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Dietary iron loading negatively affects liver mitochondrial function

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Non-transferrin bound iron: a key role in iron overload and iron toxicity

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Zip14 (Slc39a14) mediates non-transferrin-bound iron uptake into cells

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

L-type Ca2+ channels provide a major pathway for iron entry into cardiomyocytes in iron-overload cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Intestinal absorption and enterohepatic cycling of biliary iron originating from plasma non-transferrin-bound iron in rats

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The molecular basis of hepcidin-resistant hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Ferroportin diseases: functional studies, a link between genetic and clinical phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Human macrophage ferroportin biology and the basis for the ferroportin disease

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Optimizing the diagnosis and the treatment of iron overload diseases

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron disorders of genetic origin: a changing world

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Haemochromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Aceruloplasminemia

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Estimating tissue iron burden: current status and future prospects

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Non-invasive assessment of hepatic iron stores by MRI.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Non-invasive measurement of liver iron concentration using 3-Tesla magnetic resonance imaging: validation against biopsy

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Optimizing the management of hereditary haemochromatosis: the value of MRI R2* quantification to predict and monitor body iron stores.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron overload in non-transfusion-dependent thalassemia: a clinical perspective

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Molecular liaisons between erythropoiesis and iron metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Advances in understanding the pathogenesis of the red cell volume disorders.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron therapy in chronic kidney disease: Recent changes, benefits and risks

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Dysmetabolic iron overload syndrome (DIOS).

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Current approach to hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Increased risk of death from iron overload among 422 treated probands with HFE hemochromatosis and serum levels of ferritin greater than 1000 μg/L at diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Sex and acquired cofactors determine phenotypes of ferroportin disease

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

How I treat hemochromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The natural history of untreated HFE-related hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemochromatosis mutations in the general population: iron overload progression rate

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Natural history of hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE-related hemochromatosis: an update for the rheumatologist

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hereditary hemochromatosis: patient experiences of the disease and phlebotomy treatment

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Course of iron parameters in HFE-hemochromatosis patients during initial treatment with erythrocytapheresis compared to phlebotomy.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Factors affecting the rate of iron mobilization during venesection therapy for genetic hemochromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Eligibility and exclusion of hemochromatosis patients as voluntary blood donors

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Accepting hereditary hemochromatosis blood donors: ask not why, ask why not

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

How we manage patients with hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Should we treat individuals homozygous for HFE p.Cys282Tyr with ferritin 300-1000 μg/L?

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The effect of withdrawal of food iron fortification in Sweden as studied with phlebotomy in subjects with genetic hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Proton Pump Inhibitors Decrease Phlebotomy Need in HFE Hemochromatosis: Double-Blind Randomized Placebo-Controlled Trial.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemochromatosis and Vibrio vulnificus wound infections.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Patient and graft survival after liver transplantation for hereditary hemochromatosis: Implications for pathogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemosiderosis in cirrhosis: a study of 447 native livers

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hepcidin: A Promising Therapeutic Target for Iron Disorders: A Systematic Review

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Therapeutic potential of hepcidin - the master regulator of iron metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

SF-36 health survey update

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Elevated transferrin saturation, health-related quality of life and telomere length

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Quality of life utility values for hereditary haemochromatosis in Australia

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Total ankle arthroplasty in patients with hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Psychological adjustment and knowledge about hereditary hemochromatosis in a clinic-based sample: a prospective study.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomized crossover trial.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Iron availability and infection

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Pathogens, Metabolic Adaptation, and Human Diseases--An Iron-Thrifty Genetic Model.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Total and cause-specific mortality by elevated transferrin saturation and hemochromatosis genotype in individuals with diabetes: two general population studies

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

In situ proximity ligation assays indicate that hemochromatosis proteins Hfe and transferrin receptor 2 (Tfr2) do not interact.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

The hemochromatosis protein HFE inhibits iron export from macrophages.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hepcidin Expression Does Not Rescue the Iron-Poor Phenotype of Kupffer Cells in Hfe-Null Mice After Liver Transplantation

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Intestinal ferritin H is required for an accurate control of iron absorption

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemochromatosis: an endocrine liver disease.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

GNPAT variant associated with severe iron overload in HFE hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Cp/Heph mutant mice have iron-induced neurodegeneration diminished by deferiprone.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hephaestin and ceruloplasmin facilitate iron metabolism in the mouse kidney.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Known and potential roles of transferrin in iron biology

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Natural history of recessive inheritance of DMT1 mutations

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Miscellaneous non-inflammatory musculoskeletal conditions. Haemochromatosis: the bone and the joint

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Cloning and characterization of a mammalian proton-coupled metal-ion transporter

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

An iron-regulated ferric reductase associated with the absorption of dietary iron

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Targeting iron metabolism in drug discovery and delivery

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD.

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

A bone morphogenetic protein (BMP)-responsive element in the hepcidin promoter controls HFE2-mediated hepatic hepcidin expression and its response to IL-6 in cultured cells

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

31 March 2020

Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2018.16

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-transferrin-bound iron in plasma or serum from patients with idiopathic hemochromatosis. Characterization by high performance liquid chromatography and nuclear magnetic resonance spectroscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Food iron absorption in idiopathic hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of ferritin iron uptake: activity of the H-chain and deletion mapping of the ferro-oxidase site. A study of iron uptake and ferro-oxidase activity of human liver, recombinant H-chain ferritins, and of two H-chain deletion mutants

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intestinal absorption of hemoglobin iron

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulators of iron balance in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of arthritis on the quality of life in hereditary hemochromatosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pathophysiology of transfusional iron overload

1 reference

https://pubmed.ncbi.nlm.nih.gov/29620054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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