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Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.
Brain MRI (show C7ORF49 Proteins) transverse relaxation rate (R2) changes observed in both the human H63D-HFE mutation carriers and H67D-HFE knock-in mice suggest that modified white matter myelination is occurring in subjects with HFE mutations, potentially increasing vulnerability to neurodegenerative disorders.
Hjv (show HFE2 Proteins) (--) and Hfe (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis to disseminated infection with enteropathogenic Yersinia.
Male HFE carriers presented with higher iron concentration, transferrin (show Tf Proteins) saturation, and ferritin (show FTL Proteins) levels than females
No significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample
these findings support a larger scale screening for HERPUD1 (show HERPUD1 Proteins) R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.
There was a time-dependent improvement in the interpretation of the clinical significance of HFE genotypes. HFE molecular genetic testing, performed by non-US Food and Drug Administration-approved laboratory-developed tests, demonstrated excellent accuracy, sensitivity, and specificity. Clinical interpretations were more heterogeneous, probably owing to the low clinical penetrance of some common HFE genotypes
comparison between the 2 methods by Fleiss' kappa analysis showed that 5' nuclease (show DCLRE1C Proteins) assay identified the H63D and S65C haplotype as well as the reference method in all 153 tested samples. Our results showed that novel method probe-based real-time PCR were capable to detect 2 adjacent polymorphisms without errors in genotyping
We discuss herein the puzzling distribution of the two major hemochromatosis HFE mutations associated with hereditary hemochromatosis. Thus, one can observe a low frequency of C282Y and, in contrast, one of the highest European frequencies of H63D in the Basque population.
The results show an association between presence of one or both H63D alleles and development of BIP (show GDF10 Proteins) in testicular cancer patients treated with bleomycin combination chemotherapy.
the aging HFE KO mouse on an SV129 genetic background has the potential to facilitate the investigation of cardiomyopathy induced by HFE gene mutations.
unlike homozygous Hfe deletion, heterozygous gene deletion disrupted glucose homeostasis but did not affect lipid metabolism or liver injury.
Single Hjv (show HFE2 Proteins)(-)/(-) and double Hfe(-)/(-)Hjv (show HFE2 Proteins)(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv (show HFE2 Proteins) regulate hepcidin (show HAMP Proteins) via the same pathway.
Results show that HFE requires HJV (show HFE2 Proteins) to activate downstream signal transduction pathways for hepcidin (show HAMP Proteins) regulation.
Alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
results provide evidence that HFE induces hepcidin (show HAMP Proteins) expression via the BMP pathway: HFE interacts with ALK3 (show BMPR1A Proteins) to stabilize ALK3 (show BMPR1A Proteins) protein and increase ALK3 (show BMPR1A Proteins) expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 (show TFR2 Proteins) can independently regulate hepcidin (show HAMP Proteins).
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
Hfe-knockout mice did not have higher brain iron levels than wildtype controls.
Hfe(-/-) retinal pigment epithelial cells exhibited slower senescence rate and higher survivin (show BIRC5 Proteins) expression than wild type cells. Hfe(-/-) cells migrated faster and showed greater glucose uptake and increased expression of GLUTs.
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.
MHC class I-like protein HFE
, hereditary hemochromatosis protein
, hereditary hemochromatosis protein HLA-H
, high Fe
, hereditary hemochromatosis protein homolog
, hemochromatosis protein