نتایج جستجو برای: hfe gene

تعداد نتایج: 1142155  

2011
Sandra Milić Smiljana Ristić Nada Starčević-Čizmarević Bojana Brajenović-Milić Marija Crnić-Martinović Miljenko Kapović Borut Peterlin Davor Štimac

BACKGROUND Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim...

Journal: :The Journal of clinical investigation 2009
Lijian Wang Lynne Harrington Estela Trebicka Hai Ning Shi Jonathan C Kagan Charles C Hong Herbert Y Lin Jodie L Babitt Bobby J Cherayil

Mice deficient in the hemochromatosis gene, Hfe, have attenuated inflammatory responses to Salmonella infection associated with decreased macrophage TNF-alpha and IL-6 biosynthesis after exposure to LPS. In this study, we show that the abnormal cytokine production is related to impaired TLR4 signaling. Despite their abnormal response to LPS, Hfe KO macrophages produced amounts of TNF-alpha simi...

Journal: :Blood 2002
Daniel F Wallace Palle Pedersen Jeannette L Dixon Peter Stephenson Jeffrey W Searle Lawrie W Powell V Nathan Subramaniam

Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromo...

Journal: :IACR Cryptology ePrint Archive 2011
Luk Bettale Jean-Charles Faugère Ludovic Perret

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...

2009
Léon Kautz Delphine Meynard Céline Besson-Fournier Valérie Darnaud Talal Al Saati Hélène Coppin Marie-Paule Roth

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2002
Debbie Trinder John K Olynyk William S Sly Evan H Morgan

Hereditary hemochromatosis (HH) is a disorder of iron metabolism in which enhanced iron absorption of dietary iron causes increased iron accumulation in the liver, heart, and pancreas. Most individuals with HH are homozygous for a C282Y mutation in the HFE gene. The function of HFE protein is unknown, but it is hypothesized that it acts in association with beta(2)-microglobulin and transferrin ...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
James P Robinson Victoria L Johnson Pauline A Rogers Richard S Houlston Earmonn R Maher D Timothy Bishop D Gareth R Evans Huw J W Thomas Ian P M Tomlinson Andrew R J Silver

Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR). We have established the frequency of HFE mutations in colorectal cancer patients (n = 3...

Journal: :Gut 1997

BACKGROUND The diagnosis of genetic haemochromatosis (GH) before iron overload has developed is difficult. However a convincing candidate gene for GH, HFE (previously HLA-H), has been described recently. AIMS To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations. METHODS The prevalence of the HFE C282Y ...

Journal: :American journal of hematology 2016
Sadaf Badar Fabiana Busti Alberto Ferrarini Luciano Xumerle Paolo Bozzini Paola Capelli Roberto Pozzi-Mucelli Natascia Campostrini Giovanna De Matteis Sergio Marin Vargas Alejandro Giorgetti Massimo Delledonne Oliviero Olivieri Domenico Girelli

Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level" molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% o...

2011
Jingyu Huang Deborah Jones Bai Luo Michael Sanderson Jamie Soto E. Dale Abel Robert C. Cooksey Donald A. McClain

OBJECTIVE Excess tissue iron levels are a risk factor for diabetes, but the mechanisms underlying the association are incompletely understood. We previously published that mice and humans with a form of hereditary iron overload, hemochromatosis, exhibit loss of β-cell mass. This effect by itself is not sufficient, however, to fully explain the diabetes risk phenotype associated with all forms o...

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