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The goal of this study was to evaluate the impact of EHR point-of-care tools on medical record documentation of genetic testing care processes for the common HFE mutations, a thrombophilia panel, and HLA-B27.
HFE mRNA was independently elevated by extracellular and intracellular iron-excess. Thus, it may be involved in sensing both, extracellular and intracellular iron.
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
genetic disruption of Nrf2 (显示 GABPA ELISA试剂盒) promotes the transition from iron accumulation (siderosis) to liver injury in Hfe(-/-) mice, representing the first demonstration of spontaneous hepatic fibrosis in the long term in a mouse model of hereditary hemochromatosis displaying mildly elevated liver iron
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 (显示 C7ORF49 ELISA试剂盒) 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 (显示 HFE2 ELISA试剂盒) (--) 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 (显示 Tf ELISA试剂盒) saturation, and ferritin (显示 FTL ELISA试剂盒) 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 (显示 HERPUD1 ELISA试剂盒) 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.
H67D mutation in HFE gene is associated with decreased susceptibility to manganese accumulation in the brain and neurotoxicity induced by inhaled manganese.
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 (显示 HFE2 ELISA试剂盒)(-)/(-) and double Hfe(-)/(-)Hjv (显示 HFE2 ELISA试剂盒)(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv (显示 HFE2 ELISA试剂盒) regulate hepcidin (显示 HAMP ELISA试剂盒) via the same pathway.
Results show that HFE requires HJV (显示 HFE2 ELISA试剂盒) to activate downstream signal transduction pathways for hepcidin (显示 HAMP ELISA试剂盒) 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 (显示 HAMP ELISA试剂盒) expression via the BMP pathway: HFE interacts with ALK3 (显示 BMPR1A ELISA试剂盒) to stabilize ALK3 (显示 BMPR1A ELISA试剂盒) protein and increase ALK3 (显示 BMPR1A ELISA试剂盒) expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 (显示 TFR2 ELISA试剂盒) can independently regulate hepcidin (显示 HAMP ELISA试剂盒).
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.
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