نتایج جستجو برای: hemochromatosis
تعداد نتایج: 2753 فیلتر نتایج به سال:
Hereditary hemochromatosis is most commonly caused by homozygosity for a point mutation (C282Y) in the human hemochromatosis gene (HFE). The mechanism by which HFE regulates iron absorption is not known, but the C282Y mutation results in loss of cell surface expression of the human hemachromatosis protein (HFE) and hyperabsorption of iron by the duodenal enterocyte. Mice homozygous for a deleti...
Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B). However, the vast majority o...
INSULIN resistance in association with primary haemochromatosis has been reported on several occasions previously (Allen and Constam, 1929; Root, 1929; Wood and Fitzhugh, 1929; Engel, 1934; Eskind, Franklin and Lowell, 1953; Colwell and Weiger, 1956; Darnaud, Denard, Moreau, Voisin and Pujol, 1958; Uhry, Marcel and Cohen, 1958; Justin-Besancon, Pequignot, Deuil, Etienne, Magdelaine and Jullien,...
concentration of proteins in Hemoce, whereas the others detected various concentrations in the solution. The Hemoce dilutions and the results obtained after processing these dilutions on different analyzers are shown in Fig. 1. Because Hemoce is itself a mixture of polypeptides, it is inaccurate to say that Hemoce positively interferes with some urine protein methods. Nevertheless, when determi...
(2013) Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation. Neuroscience, 235. pp. 119-128. NOTICE: this is the author's version of a work that was accepted for publication in Neuroscience. Changes resulting from the publishing proc...
Title: A new 500kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis
conclusions polymorphism in the hemochromatosis gene may confer some degree of risk for hcv infection, and individuals carrying the h and c alleles may be susceptible to this disease; however, a larger sample of hcv patients and healthy individuals may be necessary to further illustrate the role of these polymorphisms in hcv. patients and methods hfe gene polymorphisms were examined in a total ...
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...
BACKGROUND AND OBJECTIVE Most patients with hereditary hemochromatosis are homozygous for a Cys282AETyr mutation in the HFE gene. This mutation has been shown to impair the association of the HFE gene product with b(2)-microglobulin and to prevent its cell surface presentation in transfected COS-7 and 293 cells. This study was performed to examine the expression of HFE protein in epithelial cel...
The term hemochromatosis represents a group of inherited disorders leading to iron overload. Mutations in HFE, HJV, and TfR2 cause autosomal-recessive forms of hemochromatosis. Mutations in ferroportin, however, result in dominantly inherited iron overload. Some mutations (H32R and N174I) in ferroportin lead to macrophage iron loading, while others (NI44H) lead to hepatocyte iron loading. Expre...
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