نتایج جستجو برای: موتاسیون hfe

تعداد نتایج: 2354  

Journal: :Blood 2003
Sayeh Vahdati-Ben Arieh Nihay Laham Chana Schechter Jon W Yewdell John E Coligan Rachel Ehrlich

HFE is a nonclassical class I molecule that associates with beta 2-microglobulin (beta 2m) and with the transferrin receptor. HFE accumulates in transferrin-containing endosomes, and its overexpression in human cell lines correlates with decreased transferrin receptor (TFR)-mediated iron uptake and decreased intracellular iron pools. A mutation that interferes with proper folding and assembly o...

Journal: :Archives of dermatology 2003
Ulrich Stölzel Erich Köstler Detlef Schuppan Matthias Richter Uwe Wollina Manfred O Doss Christian Wittekind Andrea Tannapfel

OBJECTIVE To examine the role of hemochromatosis (HFE) gene mutations, which are associated with porphyria cutanea tarda (PCT), in the therapeutic response to chloroquine. DESIGN We retrospectively analyzed a database (Excel version 2001 [Microsoft Excel, Redmond, Wash]; date range of search, 1985-1999) of chloroquine-treated patients with PCT on whether HFE mutations (C282Y and H63D) might h...

2015
Andreia Silva Evangelista Maria Cristina Nakhle Thiago Ferreira de Araújo Clarice Pires Abrantes-Lemos Marta Mitiko Deguti Flair José Carrilho Eduardo Luiz Rachid Cançado

Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic diseas...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
R E Fleming M C Migas X Zhou J Jiang R S Britton E M Brunt S Tomatsu A Waheed B R Bacon W S Sly

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption. We recently reported that HFE, the protein defective in HH, was physically associated with the transferrin receptor (TfR) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin-bound iron from pla...

2015
Wenbin Zhang Chik How Tan

In this paper, we propose a new multivariate signature scheme named MI-T-HFE as a competitor of QUARTZ. The core map of MI-T-HFE is of an HFEv type but more importantly has a specially designed trapdoor. This special trapdoor makes MI-T-HFE have several attractive advantages over QUARTZ. First of all, the core map and the public map of MI-T-HFE are both surjective. This surjectivity property is...

2011
Jintai Ding Timothy J. Hodges

In this paper, we present and prove the first closed formula bounding the degree of regularity of an HFE system over an arbitrary finite field. Though these bounds are not necessarily optimal, they can be used to deduce 1. if D, the degree of the corresponding HFE polynomial, and q, the size of the corresponding finite field, are fixed, inverting HFE system is polynomial for all fields; 2. if D...

2014
Cody Weston James Connor

Proteins involved in iron regulation are modifiers of cancer risk and progression. Of these, the HFE protein (high iron gene and its protein product) is of particular interest because of its interaction with both iron handling and immune function and the high rate of genetic polymorphisms resulting in a mutant protein. Clinical studies suggest that HFE polymorphisms increase the risk of certain...

Journal: :BMC Gastroenterology 2005
Gavin Willis Vicky Bardsley Ian W Fellows Ray Lonsdale Jennie Z Wimperis Barbara A Jennings

BACKGROUND Although most patients with hereditary haemochromatosis have HFE C282Y mutations, the lifetime risk to HFE C282Y homozygotes of developing fatal diseases such as hepatocellular carcinoma is uncertain. We have carried out a cross-sectional study to determine the proportion of diagnosed hepatocellular carcinoma patients who are homozygous for the HFE C282Y mutation; and to estimate the...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
J N Feder D M Penny A Irrinki V K Lee J A Lebrón N Watson Z Tsuchihashi E Sigal P J Bjorkman R C Schatzman

We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. The gene product, a member of the major histocompatibility complex class I-like family, was found to have a mutation, Cys-282 --> Tyr (C282Y), in 85% of patient chromosomes. This mutation eliminates the ability of HFE to associate with beta2-microglobulin (beta2m) and prevents cell-surface...

Journal: :Work 2012
Martin Robb Gerald Miller

Oil and gas exploration and production activities are carried out in hazardous environments in many parts of the world. Recent events in the Gulf of Mexico highlight those risks and underline the importance of considering human factors during facility design. Ergonomic factors such as machinery design, facility and accommodation layout and the organization of work activities have been systemati...

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