نتایج جستجو برای: موتاسیون hfe
تعداد نتایج: 2354 فیلتر نتایج به سال:
Impaired regulation of hepcidin expression in response to iron loading appears to be the pathogenic mechanism for hereditary hemochromatosis. Iron normally induces expression of the BMP6 ligand, which, in turn, activates the BMP/Smad signaling cascade directing hepcidin expression. The molecular function of the HFE protein, involved in the most common form of hereditary hemochromatosis, is stil...
BACKGROUND Previous studies found effect modification of associations between traffic-related air pollution and cardiovascular outcomes by polymorphisms in the hemochromatosis gene (HFE). As traffic-related air pollution may impact cognition through effects on cardiovascular health or through mechanisms which may also influence cardiovascular outcomes, we hypothesized that HFE polymorphisms wou...
Background Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) found...
The potential of human factors and ergonomics (HFE) contributions to business performances is underestimated. Companies have a narrow understanding do not perceive it as strategic partner. In order call for attention within the HFE community in world, authors conducted series interviews with eleven leading experts on their visions aid business. Results indicate challenges issues along opportuni...
OBJECTIVE To study whether any relationship exists between the C282Y and H63D mutations of the HFE gene, iron liver content, and the severity of histological damage in patients with hepatitis C virus (HCV)-induced chronic hepatitis. MATERIAL AND METHODS In 72 patients diagnosed with HCV-chronic infection, naïve for antiviral therapy, and undergoing liver biopsy, the Knodell index was establis...
BACKGROUND AND OBJECTIVES Increased serum hepcidin has been reported in patients receiving chronic hemodialysis, and hypothesized to contribute to the alterations of iron metabolism of end-stage renal disease. However, no quantitative assessment is available to date; the clinical determinants are still under definition; and the role of genetic factors, namely HFE mutations, has not yet been eva...
BACKGROUND/AIMS The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete inform...
Abstract Rechargeable magnesium batteries have attractive features as a post-lithium battery owing to their high volumetric capacity, safety, and low cost. However, the charge density of Mg 2+ causes sluggish interfacial transfer kinetics at electrode/electrolyte interface. This paper is an attempt optimize electrochemical performance halogen-free liquid electrolyte (HFE)-based nitrate (Mg(NO 3...
PAGE DATE High levels of noise were measured on the HFE/Central Station power and data interface lines during Flight #3 Integration Tests. Subsequent system tests including a special noise susceptibility test proved that the HFE induced noise levels were well below a margin that would adversely affect system performance.
background: there are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, c282y and h63d, in iranian adult population. this is the first study among iranians that may advocate a screening program. materials and methods: we investigated the frequency of the c282y/h63d hfe gene mutations in a group of 1029 randomly selected iranian blood donors as well...
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