نتایج جستجو برای: موتاسیون hfe
تعداد نتایج: 2354 فیلتر نتایج به سال:
سابقه و هدف : تمرکز اصلی تحقیقات اخیر بر پیدا کردن ارتباط بین موتاسیون های hfe و هپاتیت c بخصوص در بیماران مبتلا به اضافه بار آهن بوده است. ما در مطالعه خود فراوانی این موتاسیون ها و سطح فریتین را در گروهی از بیماران مبتلا به هپاتیت b با درجات مختلف این بیماری و افراد سالم بررسی کردیم. مواد و روشها : در این مطالعه 75 بیمار دارای آنتی ژن سطحی هپاتیت b (hbsag- positive) شامل 18 ناقل و 57 مورد م...
سابقه و هدف: تا به حال مطالعهای در مورد فراوانی و بیان بیوشیمیایی موتاسیونها در ارتباط با بیماری هموکروماتوز (H63D/C282Y) در جمیعت بالغ ایرانی انجام نشده است. هدف این مطالعه ارزیابی فراوانی موتاسیونهای ژن هموکروماتوز در گروهی از جمعیت ایرانی میباشد. روش بررسی: فراوانی موتاسیونهای ژن HFE شامل C282Y/H63D را در 1029 اهداءکننده خون ایرانی که به طور تصادفی انتخاب شده بودند، همراه با میزان اشبا...
BACKGROUND Human factors and ergonomics (HFE) approaches to patient safety have addressed five different domains: usability of technology; human error and its role in patient safety; the role of healthcare worker performance in patient safety; system resilience; and HFE systems approaches to patient safety. METHODS A review of various HFE approaches to patient safety and studies on HFE interv...
We investigate in this paper the security of HFE and Multi-HFE schemes as well as their minus and embedding variants. Multi-HFE is a generalization of the well-known HFE schemes. The idea is to use a multivariate quadratic system – instead of a univariate polynomial in HFE – over an extension field as a private key. According to the authors, this should make the classical direct algebraic (mess...
Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study populat...
Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contr...
Mutations in HFE cause the most common form of hereditary hemochromatosis (HH). We previously showed that liver-specific, transgenic overexpression of murine Hfe stimulates production of the iron regulatory hormone hepcidin. Here, we developed several additional transgenic mouse strains to further interrogate the structural basis of HFE function in the pathophysiology of HH. We hypothesized tha...
Mutations in HFE are the most common cause of hereditary hemochromatosis (HH). HFE mutations result in reduced expression of hepcidin, a hepatic hormone, which negatively regulates iron absorption from the duodenum and iron release from macrophages. However, the mechanism by which HFE regulates hepcidin expression in hepatocytes is not well understood. It is known that the bone morphogenetic pr...
Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepci...
Hereditary hemochromatosis (HH) is a common disorder of iron metabolism caused by mutation in HFE, a gene encoding an MHC class I-like protein. Clinical studies demonstrate that the severity of iron loading is highly variable among individuals with identical HFE genotypes. To determine whether genetic factors other than Hfe genotype influence the severity of iron loading in the murine model of ...
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