Of mice and men: genetic determinants of iron status (Q47801327)

5 February 2018

title

Of mice and men: genetic determinants of iron status (English)

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5 February 2018

author

Robert J. Simpson

series ordinal

3

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5 February 2018

author name string

Johanne McGregor

series ordinal

1

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5 February 2018

Andrew T McKie

series ordinal

2

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5 February 2018

publication date

1 February 2004

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5 February 2018

Proceedings of the Nutrition Society

published in

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5 February 2018

volume

63

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5 February 2018

issue

1

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5 February 2018

page(s)

11-20

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5 February 2018

Geography of HFE C282Y and H63D mutations

cites work

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

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https://api.crossref.org/works/10.1079%2FPNS2003312

Genes that modify the hemochromatosis phenotype in mice

21 January 2018

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A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

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https://api.crossref.org/works/10.1079%2FPNS2003312

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Perspectives on nutritional iron deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Body iron excretion in man: a collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Hereditary haemochromatosis and the hypothesis that iron depletion protects against ischemic heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Morbidity risk in HFE associated hereditary hemochromatosis C282Y heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Juvenile hemochromatosis locus maps to chromosome 1q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Multicentric origin of hemochromatosis gene (HFE) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Uncommon mutations and polymorphisms in the hemochromatosis gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Evidence for the interaction of the hereditary haemochromatosis protein, HFE, with the transferrin receptor in endocytic compartments

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Human heme oxygenase cDNA and induction of its mRNA by hemin

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Potential role of increased iron stores in diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Iron loading and disease surveillance

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Lessons from liver transplantation: flip, flop, and why?

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Physiology and molecular biology of dietary iron absorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Global prevalence of putative haemochromatosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Relative importance of female-specific and non-female-specific effects on variation in iron stores between women

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Mutation analysis of the transferrin receptor-2 gene in patients with iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Human transferrin G277S mutation: a risk factor for iron deficiency anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Duodenal nonheme iron content correlates with iron stores in mice, but the relationship is altered by Hfe gene knock-out

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Haemochromatosis, HFE and genetic complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

A new mutation (G51C) in the iron-responsive element (IRE) of l-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Juvenile haemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Iron homeostasis: insights from genetics and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Juvenile hemochromatosis in a Spanish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

21 January 2018

1 reference

https://api.crossref.org/works/10.1079%2FPNS2003312

21 January 2018

Identifiers

DOI

10.1079/PNS2003312

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5 February 2018

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5 February 2018