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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Hemochromatosis

HFE
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Transferrin, Hepcidin, HAD, AGE, CAN
Papers using HFE antibodies
Serum erythropoietin and its relation with soluble transferrin receptor in patients with different types of anaemia in a locally defined reference population
Supplier
Formanowicz Piotr et al., In Bioprocess and Biosystems Engineering, 2000
... HFE the hemochromatosis proteinTable 2The names and IDs of the transitions of ...
Papers on HFE
Iron metabolism and related genetic diseases: A cleared land, keeping mysteries.
Review
New
Loréal et al., Rennes, France. In J Hepatol, Feb 2016
The liver is strongly involved when iron excess is related either to hepcidin deficiency, as in HFE, hemojuvelin, hepcidin, and transferrin receptor 2 related haemochromatosis, or to hepcidin resistance, as in type B ferroportin disease.
Risk Factors for Insulin Resistance, Metabolic Syndrome, and Diabetes in 248 HFE C282Y Homozygotes Identified by Population Screening in the HEIRS Study.
New
Acton et al., London, Canada. In Metab Syndr Relat Disord, Feb 2016
BACKGROUND: We sought to identify risk factors for insulin resistance, metabolic syndrome (MetS), and diabetes mellitus in 248 non-Hispanic white HFE C282Y homozygotes identified by population screening.
Meta analysis on relationship between distributions of C282Y and H63D alleles and genotypes and hepatocellular carcinoma.
New
Jing et al., Chongqing, China. In Minerva Med, Feb 2016
UNASSIGNED: According to the results of retrieving PubMed/MEDLINE and EMBASE databases, this study summarized distributions of two commonly mutated alleles (C282Y and H63D) and genotypes in HFE gene, and considered odds ratios (ORs) as well as its 95% confidence intervals (95% CIs) as effective variables of the included study itself and after summarizing.
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.
New
Milward et al., Newcastle, Australia. In Mol Psychiatry, Feb 2016
To understand how iron loading affects the brain, we studied mice with disruption of two iron regulatory genes, hemochromatosis (Hfe) and transferrin receptor 2 (Tfr2).
Variation in an Iron Metabolism Gene Moderates the Association Between Blood Lead Levels and Attention-Deficit/Hyperactivity Disorder in Children.
New
Nikolas et al., United States. In Psychol Sci, Jan 2016
In a case-control study, we examined the association between ADHD symptoms in children and blood lead level as moderated by variants in the hemochromatosis (HFE) gene.
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Review
New
Acton et al., Birmingham, United States. In Gene, Jan 2016
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported.
Differential expression of feeding-related hypothalamic neuropeptides in the first generation of quails divergently selected for low or high feed efficiency.
New
Dridi et al., Fayetteville, United States. In Neuropeptides, Jan 2016
ADPN gene expression was higher and its receptor Adip-R1 was lower in LFE compared to HFE females (P<0.05).
Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.
Review
New
Pietrangelo, Modena, Italy. In Gastroenterology, Oct 2015
In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified.
[Hemochromatosis].
Review
New
Zwerina et al., Vienna, Austria. In Z Rheumatol, Sep 2015
The homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis, although other much rarer mutations in other genes have been recently identified.
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis.
New
Impact
Knutson et al., Gainesville, United States. In Cell Metab, Aug 2015
To test the role of SLC39A14 in tissue iron loading, we crossed Slc39a14(-/-) mice with Hfe(-/-) and Hfe2(-/-) mice, animal models of type 1 and type 2 (juvenile) hemochromatosis, respectively.
The Human Factors and Ergonomics of P300-Based Brain-Computer Interfaces.
Review
Nam et al., Raleigh, United States. In Brain Sci, 2014
This review examined the literature to highlight studies that implicate the human factors and ergonomics (HFE) of P300-based BCIs.
The adaptable major histocompatibility complex (MHC) fold: structure and function of nonclassical and MHC class I-like molecules.
Review
Impact
Luoma et al., Chicago, United States. In Annu Rev Immunol, 2012
Well adapted for antigen presentation, as seen for peptides in the classical MHC molecules and for lipids in CD1 molecules, the MHC fold has also been modified to perform Fc-receptor activity (e.g., FcRn) and for roles in host homeostasis (e.g., with HFE and ZAG).
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
GeneRIF
Morán-Jiménez et al., Madrid, Spain. In Gene, 2012
Mutations in the HFE gene is associated with hemochromatosis.
The functional significance of E277K and V295A HFE mutations.
GeneRIF
Faustino et al., Lisbon, Portugal. In Br J Haematol, 2012
Immunoprecipitation assays revealed a decreased association of HFE_E277K and HFE_V295A with both beta2-microglobulin and transferrin receptor.
Dietary iron intake and serum ferritin concentration in 213 patients homozygous for the HFEC282Y hemochromatosis mutation.
GeneRIF
Adams et al., Washington, D.C., United States. In Can J Gastroenterol, 2012
These results do not support recommending dietary heme or nonheme iron restrictions for HFEC282Y homozygotes diagnosed through screening in North America.
[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].
GeneRIF
Aguilar-Martinez et al., Rennes, France. In Ann Biol Clin (paris), 2012
Molecular diagnosis of HFE mutations in routine laboratories.
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.
GeneRIF
Huetz et al., Besançon, France. In Eur J Immunol, 2012
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.
Lack of the bone morphogenetic protein BMP6 induces massive iron overload.
Impact
Roth et al., Toulouse, France. In Nat Genet, 2009
The iron burden in Bmp6 mutant mice is significantly greater than that in mice deficient in the gene associated with classical hemochromatosis (Hfe), suggesting that mutations in BMP6 might cause iron overload in humans with severe juvenile hemochromatosis for which the genetic basis has not yet been characterized.
Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.
Impact
GeneRIF
Enns et al., Portland, United States. In Cell Metab, 2009
Because the HFE alpha3 domain interacts with receptor 2 (TfR2), these results supported the finding that TfR2/HFE complex is required for transcriptional regulation of hepcidin by holo-transferrin.
Iron sensing as a partnership: HFE and transferrin receptor 2.
Impact
Fleming, Saint Louis, United States. In Cell Metab, 2009
The mechanism by which HFE participates in the regulation of iron homeostasis has remained enigmatic.
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