نتایج جستجو برای: موتاسیون hfe
تعداد نتایج: 2354 فیلتر نتایج به سال:
Hepcidin is a negative regulator of iron absorption produced mainly by the liver in response to changes in iron stores and inflammation, and its levels have been shown to regulate the intestinal basolateral iron transporter ferroportin1 (Fp1). Hereditary hemochromatosis patients and Hfe-deficient mice show inappropriate expression of hepcidin but, in apparent contradiction, still retain the abi...
INTRODUCTION Given the severity of the current imbalance between blood donor supply and recipient demand, discarded blood drawn from the routine venesections of haemochromatosis (HFE-HH) patients may serve as a valuable alternative source for blood banks and transfusion. We investigated whether functional or biochemical differences existed between HFE-HH and control blood samples, with particul...
BACKGROUND As iron and lead promote oxidative damage, and hemochromatosis (HFE) gene polymorphisms increase body iron burden, HFE variant alleles may modify the lead burden and cognitive decline relationship. OBJECTIVE Our goal was to assess the modifying effects of HFE variants on the lead burden and cognitive decline relation in older adults. METHODS We measured tibia and patella lead usi...
The puzzling linkage between genetic hemochromatosis and histocompatibility loci became even more so when the gene involved, HFE, was identified. Indeed, within the well defined, mainly peptide-binding, MHC class I family of molecules, HFE seems to perform an unusual yet essential function. As yet, our understanding of HFE function in iron homeostasis is only partial; an even more open question...
BACKGROUND Given mounting evidence for adverse effects from excess manganese exposure, it is critical to understand host factors, such as genetics, that affect manganese metabolism. METHODS Archived blood samples, collected from 332 Mexican women at delivery, were analyzed for manganese. We evaluated associations of manganese with functional variants in three candidate iron metabolism genes: ...
In this paper, we prove a closed formula for the degree of regularity of the family of HFE(HFE Minus) multivariate public key cryptosystems over a finite field of size q. The degree of regularity of the polynomial system derived from an HFEsystem is less than or equal to (q − 1)(blogq(D − 1)c+ a) 2 + 2 if q is even and r + a is odd, (q − 1)(blogq(D − 1)c+ a + 1) 2 + 2 otherwise. Here q is the b...
INTRODUCTION Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that h...
BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES Investigation of porphyria cutanea tarda ass...
In contrast to the conventional all-or-nothing encryption, functional encryption (FE) allows partial revelation of encrypted information based on the keys associated with different functionalities. Extending FE with key delegation ability, hierarchical functional encryption (HFE) enables a secret key holder to delegate a portion of its decryption ability to others and the delegation can be done...
Iron is essential for life in almost all organisms and, in mammals, is absorbed through the villus cells of the duodenum. Using a human colonic carcinoma cell line that has many duodenal characteristics, HT29, we show that genes involved in intestinal iron transport are endogenously expressed. When stably transfected to express the hereditary hemochromatosis protein HFE these cells have increas...
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