HFE gene: Structure, function, mutations, and associated iron abnormalities. (Q30380172)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26456104%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

HFE gene: Structure, function, mutations, and associated iron abnormalities (English)

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26 February 2020

part of the series

Gene Wiki Review Series

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author

James C Barton

series ordinal

1

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26 February 2020

author name string

Corwin Q Edwards

series ordinal

2

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26 February 2020

Ronald T Acton

series ordinal

3

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26 February 2020

language of work or name

English

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publication date

9 October 2015

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26 February 2020

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26 February 2020

volume

574

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26 February 2020

page(s)

179-192

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26 February 2020

issue

2

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Shapes of MHC restriction

26 February 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternate splice variants of the hemochromatosis gene Hfe.

1 reference

12 December 2020

Multicentric origin of hemochromatosis gene (HFE) mutations

1 reference

12 December 2020

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

1 reference

12 December 2020

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

1 reference

12 December 2020

Conservation and diversification of MHC class I and its related molecules in vertebrates

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternate splicing produces a soluble form of the hereditary hemochromatosis protein HFE

1 reference

12 December 2020

The transferrin receptor binding site on HFE, the class I MHC-related protein mutated in hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis

1 reference

12 December 2020

Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis

1 reference

12 December 2020

The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The iron transporter DMT1.

1 reference

12 December 2020

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.

1 reference

12 December 2020

Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content

1 reference

12 December 2020

Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor

1 reference

12 December 2020

Anthracycline cardiotoxicity in a black rhinoceros (Diceros bicornis): evidence for impaired antioxidant capacity compounded by iron overload

1 reference

12 December 2020

From Shakespeare to Defoe: malaria in England in the Little Ice Age.

1 reference

12 December 2020

Mutation Analysis of the HFE Gene in Brazilian Populations

1 reference

12 December 2020

HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors

1 reference

12 December 2020

Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation

1 reference

12 December 2020

A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations

1 reference

12 December 2020

Geography of HFE C282Y and H63D mutations

1 reference

12 December 2020

Localization of iron transport and regulatory proteins in human cells

1 reference

12 December 2020

The HFE gene undergoes alternate splicing processes.

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential HFE allele expression in hemochromatosis heterozygotes

1 reference

12 December 2020

Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

1 reference

12 December 2020

The S65C mutation in Spain. Implications for iron overload screening.

1 reference

12 December 2020

Detection of an unusual combination of mutations in the HFE gene for hemochromatosis

1 reference

12 December 2020

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis.

1 reference

12 December 2020

Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms

1 reference

12 December 2020

The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet

1 reference

12 December 2020

Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene

1 reference

12 December 2020

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.

1 reference

12 December 2020

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

1 reference

12 December 2020

Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene

1 reference

12 December 2020

Letter: Idiopathic hemochromatosis associated with HL-A 3 tissular antigen

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanisms of iron accumulation in hereditary hemochromatosis

1 reference

12 December 2020

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls

1 reference

12 December 2020

A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin

1 reference

12 December 2020

Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

1 reference

12 December 2020

Regulation of iron absorption in Hfe mutant mice

1 reference

12 December 2020

HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

1 reference

12 December 2020

Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.

1 reference

12 December 2020

A very rare association of three mutations of the HFE gene for hemochromatosis

1 reference

12 December 2020

Comprehensive hereditary hemochromatosis genotyping

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12 December 2020

Decreased liver hepcidin expression in the Hfe knockout mouse

1 reference

12 December 2020

Seeking candidate mutations that affect iron homeostasis

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis

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12 December 2020

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

1 reference

12 December 2020

Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores

1 reference

12 December 2020

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

1 reference

12 December 2020

Duodenal expression of iron transport molecules in untreated haemochromatosis subjects.

1 reference

12 December 2020

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

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12 December 2020

Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis

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12 December 2020

A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?

1 reference

12 December 2020

A method for detecting recent selection in the human genome from allele age estimates

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12 December 2020

Hypoxic response of iron absorption is not affected by the Hfe gene knock-out in mice.

1 reference

12 December 2020

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

1 reference

12 December 2020

Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin

1 reference

12 December 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

12 December 2020

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

1 reference

12 December 2020

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

1 reference

12 December 2020

An antecedent of the MHC-linked genomic region in amphioxus

1 reference

12 December 2020

Multigenic control of hepatic iron loading in a murine model of hemochromatosis

1 reference

12 December 2020

Hematologically important mutations: iron storage diseases

1 reference

12 December 2020

The three-dimensional structure of HLA-B27 at 2.1 A resolution suggests a general mechanism for tight peptide binding to MHC

1 reference

12 December 2020

The origin and spread of the HFE-C282Y haemochromatosis mutation

1 reference

12 December 2020

Molecular analysis of iron overload in β2-microglobulin-deficient mice

1 reference

12 December 2020

Regulation of transferrin receptor 2 protein levels by transferrin

1 reference

12 December 2020

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

1 reference

12 December 2020

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

1 reference

12 December 2020

Iron absorption in carriers of the C282Y hemochromatosis mutation

1 reference

12 December 2020

Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.

1 reference

12 December 2020

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation

1 reference

12 December 2020

Identification of a shark sequence resembling the major histocompatibility complex class I alpha 3 domain

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepatic iron loading in patients with compound heterozygous HFE mutations

1 reference

12 December 2020

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain

1 reference

12 December 2020

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes

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12 December 2020

Kupffer cells and macrophages are not required for hepatic hepcidin activation during iron overload

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12 December 2020

Regulatory networks for the control of body iron homeostasis and their dysregulation in HFE mediated hemochromatosis

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12 December 2020

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

1 reference

12 December 2020

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

1 reference

12 December 2020

Duodenal Dcytb and hephaestin mRNA expression are not significantly modulated by variations in body iron homeostasis

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12 December 2020

A genome-wide survey of Major Histocompatibility Complex (MHC) genes and their paralogues in zebrafish

1 reference

12 December 2020

Limited iron export by hepatocytes contributes to hepatic iron-loading in the Hfe knockout mouse.

1 reference

12 December 2020

HLA-G in human reproduction: aspects of genetics, function and pregnancy complications

1 reference

12 December 2020

An HLA study in 74 Danish haemochromatosis patients and in 21 of their families

1 reference

12 December 2020

Localisation of proteins of iron metabolism in the human placenta and liver.

1 reference

12 December 2020

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis

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12 December 2020

Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study

1 reference

12 December 2020

Physiologic systemic iron metabolism in mice deficient for duodenal Hfe

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12 December 2020

A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda

1 reference

12 December 2020

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis

1 reference

12 December 2020

An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy

1 reference

12 December 2020

Cellular co-localization of intron-4 containing mRNA and HLA-G soluble protein in melanoma analyzed by fluorescence in situ hybridization

1 reference

12 December 2020

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

1 reference

12 December 2020

Global sequencing approach for characterizing the molecular background of hereditary iron disorders

1 reference

12 December 2020

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

1 reference

12 December 2020

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

1 reference

12 December 2020

Hfe acts in hepatocytes to prevent hemochromatosis.

1 reference

12 December 2020

The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

1 reference

12 December 2020

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden

1 reference

12 December 2020

The role of Hfe in transferrin-bound iron uptake by hepatocytes

1 reference

12 December 2020

Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1).

1 reference

12 December 2020

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

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12 December 2020

Down-regulation of hepcidin in porphyria cutanea tarda

1 reference

12 December 2020

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

1 reference

12 December 2020

Haemochromatosis gene frequency in a control and diabetic Irish population

1 reference

12 December 2020

Transferrin-a modulates hepcidin expression in zebrafish embryos

1 reference

12 December 2020

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

1 reference

12 December 2020

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

1 reference

12 December 2020

Use of phlebotomy treatment in Atlantic bottlenose dolphins with iron overload.

1 reference

12 December 2020

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

1 reference

12 December 2020

Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.

1 reference

12 December 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

12 December 2020

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

1 reference

12 December 2020

Relationship between gene expression of duodenal iron transporters and iron stores in hemochromatosis subjects

1 reference

12 December 2020

The role of hepcidin in iron metabolism

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12 December 2020

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

1 reference

12 December 2020

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D6S105 locus

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D6S109 locus

1 reference

12 December 2020

Hepatic zinc in hemochromatosis

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12 December 2020

N-glycosylation is important for the correct intracellular localization of HFE and its ability to decrease cell surface transferrin binding

1 reference

12 December 2020

The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing.

1 reference

12 December 2020

H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China.

1 reference

12 December 2020

Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden.

1 reference

12 December 2020

Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis

1 reference

12 December 2020

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

1 reference

12 December 2020

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

1 reference

12 December 2020

Iron storage disease in red deer (Cervus elaphus elaphus) is not associated with mutations in the HFE gene.

1 reference

12 December 2020

Hepcidin and iron regulation, 10 years later

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12 December 2020

Differential HFE gene expression is regulated by alternative splicing in human tissues

1 reference

12 December 2020

Do all hemochromatosis patients have the same origin? An analysis of mitochondrial DNA and Y-DNA

1 reference

12 December 2020

Uroporphyria in the Cyp1a2-/- mouse

1 reference

12 December 2020

Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

1 reference

12 December 2020

Duodenal expression of iron transport molecules in patients with hereditary hemochromatosis or iron deficiency

1 reference

12 December 2020

Molecular mechanisms of hepcidin regulation in sea bass (Dicentrarchus labrax).

1 reference

12 December 2020

A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line

1 reference

12 December 2020

Unique frequencies of HFE gene variants in Roma/Gypsies.

1 reference

12 December 2020

The cloning of the gene for hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Iron overload syndrome in the black rhinoceros (Diceros bicornis): microscopical lesions and comparison with other rhinoceros species

1 reference

12 December 2020

H63D mutation in HFE gene is common in Indians and is associated with the European haplotype

1 reference

12 December 2020

Iron indices in bottlenose dolphins (Tursiops truncatus).

1 reference

12 December 2020

[Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of central Eurasia].

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D6S89 locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of carp genes encoding major histocompatibility complex antigens

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12 December 2020

Regulation of HFE expression by poly(ADP-ribose) polymerase-1 (PARP1) through an inverted repeat DNA sequence in the distal promoter

1 reference

12 December 2020

Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas

1 reference

12 December 2020

A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay

1 reference

12 December 2020

Preliminary investigation of bottlenose dolphins (Tursiops truncatus) for hfe gene-related hemochromatosis

1 reference

12 December 2020

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

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12 December 2020

Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

HLA typing in 67 Italian patients with idiopathic hemochromatosis and their relatives

1 reference

12 December 2020

Idiopathic haemochromatosis in north Portugal: association with haplotype A3B7.

1 reference

12 December 2020

Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.

1 reference

12 December 2020

A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA as

1 reference

12 December 2020

Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?

1 reference

12 December 2020

Transferrin receptors in hemochromatosis

1 reference

12 December 2020

Alteration of cobalt absorption in portal cirrhosis and idiopathic hemochromatosis

1 reference

12 December 2020

Liver manganese in hemochromatosis

1 reference

12 December 2020

Genetic mapping of the hemochromatosis locus on chromosome six

1 reference

12 December 2020

HLA as a marker of the hemochromatosis gene in Sweden

1 reference

12 December 2020

The genetics of hemochromatosis.

1 reference

12 December 2020

Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

1 reference

12 December 2020

Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis

1 reference

12 December 2020

Mapping and characterization of non-HLA multigene assemblages in the human MHC class I region

1 reference

12 December 2020

Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis

1 reference

12 December 2020

Malaria in England: a geographical and historical perspective

1 reference

12 December 2020

Mapping recombinant events with molecular markers in hemochromatosis pedigrees

1 reference

12 December 2020

Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype

1 reference

12 December 2020

Expansion of genes that encode MHC class I molecules in cyprinid fishes.

1 reference

12 December 2020

Localization of the hemochromatosis gene close to D6S105.

1 reference

12 December 2020

Histocompatibility antigens as markers of abnormal iron metabolism in idiopathic hemochromatosis

1 reference

12 December 2020

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

1 reference

12 December 2020

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).

1 reference

12 December 2020

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

1 reference

12 December 2020

beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism

1 reference

12 December 2020

A strategy for cloning the hereditary hemochromatosis gene

1 reference

12 December 2020

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

1 reference

12 December 2020

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

1 reference

12 December 2020

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.

1 reference

12 December 2020

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

1 reference

12 December 2020

Putting a hold on 'HLA-H'.

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12 December 2020

Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.

1 reference

12 December 2020

Hemochromatosis: association of severity of iron overload with genetic markers.

1 reference

12 December 2020

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

1 reference

12 December 2020

Global prevalence of putative haemochromatosis mutations

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12 December 2020

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

1 reference

12 December 2020

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis

1 reference

12 December 2020

New diallelic markers in the HLA region of chromosome 6

1 reference

12 December 2020

Conservation of ancestral haplotypes telomeric of HLA-A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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12 December 2020

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

1 reference

12 December 2020

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

1 reference

12 December 2020

HFE gene knockout produces mouse model of hereditary hemochromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients

1 reference

12 December 2020

The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations

1 reference

12 December 2020

Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?

1 reference

12 December 2020

Hemochromatosis in Ireland and HFE

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.GENE.2015.10.009

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26456104%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26456104%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference