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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 (zeige C7ORF49 Proteine) 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 (zeige HFE2 Proteine) (--) 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 (zeige Tf Proteine) saturation, and ferritin (zeige FTL Proteine) 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 (zeige HERPUD1 Proteine) 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 (zeige DCLRE1C Proteine) 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 (zeige GDF10 Proteine) 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 (zeige HFE2 Proteine)(-)/(-) and double Hfe(-)/(-)Hjv (zeige HFE2 Proteine)(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv (zeige HFE2 Proteine) regulate hepcidin (zeige HAMP Proteine) via the same pathway.
Results show that HFE requires HJV (zeige HFE2 Proteine) to activate downstream signal transduction pathways for hepcidin (zeige HAMP Proteine) 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 (zeige HAMP Proteine) expression via the BMP pathway: HFE interacts with ALK3 (zeige BMPR1A Proteine) to stabilize ALK3 (zeige BMPR1A Proteine) protein and increase ALK3 (zeige BMPR1A Proteine) expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 (zeige TFR2 Proteine) can independently regulate hepcidin (zeige HAMP Proteine).
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 (zeige BIRC5 Proteine) 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