Pathophysiology of hereditary hemochromatosis (Q24654441)

Europe PubMed Central

title

Pathophysiology of hereditary hemochromatosis (English)

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1 reference

Robert E Fleming

1

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Robert S Britton

2

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Abdul Waheed

3

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William S Sly

4

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Bruce R Bacon

Seminars in Liver Disease

5

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language of work or name

English

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publication date

November 2005

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published in

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volume

25

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issue

4

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page(s)

411-9

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cites work

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

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

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Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

7 April 2017

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Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

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

7 April 2017

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Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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Genotypic and phenotypic heterogeneity of African Americans with primary iron overload

7 April 2017

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Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

7 April 2017

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Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene

7 April 2017

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Structure and liver cell expression pattern of the HFE gene in the rat

7 April 2017

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Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

7 April 2017

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

7 April 2017

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Intestinal expression of genes involved in iron absorption in humans

7 April 2017

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

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Disorders of iron metabolism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The C282Y mutation causing hereditary hemochromatosis does not produce a null allele

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Multicentric origin of hemochromatosis gene (HFE) mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

HFE gene knockout produces mouse model of hereditary hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The molecular basis of ferroportin-linked hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hepcidin in iron overload disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The hereditary hemochromatosis protein, HFE, lowers intracellular iron levels independently of transferrin receptor 1 in TRVb cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Delayed hepcidin response explains the lag period in iron absorption following a stimulus to increase erythropoiesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hereditary hemochromatosis--a new look at an old disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The orchestration of body iron intake: how and where do enterocytes receive their cues?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Pathogenesis of hereditary hemochromatosis: genetics and beyond.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Mechanisms of iron accumulation in hereditary hemochromatosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Molecular aspects of iron absorption and HFE expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hemochromatosis: diagnosis and management

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Uncommon mutations and polymorphisms in the hemochromatosis gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Haemochromatosis in the new millennium.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

A population-based study of the clinical expression of the hemochromatosis gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

The significance of haemochromatosis gene mutations in the general population: implications for screening

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Iron metabolism in reticuloendothelial cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hepcidin levels in humans are correlated with hepatic iron stores, hemoglobin levels, and hepatic function

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hepcidin is decreased in TFR2 hemochromatosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Nontransferrin-bound iron uptake by hepatocytes is increased in the Hfe knockout mouse model of hereditary hemochromatosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Localization of iron metabolism–related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587012

Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats

28 November 2018

1 reference

12 December 2020

African iron overload

1 reference

12 December 2020

Hepcidin, a new iron regulatory peptide

1 reference

12 December 2020

Decreased liver hepcidin expression in the Hfe knockout mouse

1 reference

12 December 2020

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

1 reference

12 December 2020

Non-HFE hemochromatosis

1 reference

12 December 2020

A non-transferrin-bound serum iron in idiopathic hemochromatosis

1 reference

12 December 2020

Reticuloendothelial iron stores and hereditary hemochromatosis: a paradox

1 reference

12 December 2020

1 reference

12 December 2020

Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis

1 reference

12 December 2020

Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism

1 reference

12 December 2020

Iron release from human monocytes after erythrophagocytosis in vitro: an investigation in normal subjects and hereditary hemochromatosis patients

1 reference

12 December 2020

Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis

1 reference

12 December 2020

Iron overload in β2-microglobulin-deficient mice

1 reference

12 December 2020

Time-course analysis of hepcidin, serum iron, and plasma cytokine levels in humans injected with LPS

1 reference

12 December 2020

Haemochromatosis, HFE and genetic complexity

1 reference

12 December 2020

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States

1 reference

12 December 2020

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

1 reference

12 December 2020

Inactivation of the hemochromatosis gene differentially regulates duodenal expression of iron-related mRNAs between mouse strains

1 reference

12 December 2020