نتایج جستجو برای: موتاسیون hfe

تعداد نتایج: 2354  

Journal: :Annales de biologie clinique 2012
Anne-Marie Jouanolle Victoria Gérolami Cécile Ged Bernard Grandchamp Gérald Le Gac Serge Pissard Jacques Rochette Patricia Aguilar-Martinez

HFE-related hemochromatosis (HFE hemochromatosis) or type 1 hemochromatosis is an autosomal recessive disease characterized by progressive iron overload usually expressed in adulthood. The HFE gene, located on the short arm of chromosome 6 (6p21.3), encodes a protein that plays a crucial role in iron metabolism by modulating hepcidin synthesis in the liver. Homozygosity for the p.Cys282Tyr muta...

2009
Alejandra Rodriguez Tiina Luukkaala Robert E. Fleming Robert S. Britton Bruce R. Bacon Seppo Parkkila

Iron is an essential trace element whose absorption is usually tightly regulated in the duodenum. HFE-related hereditary hemochromatosis (HH) is characterized by abnormally low expression of the iron-regulatory hormone, hepcidin, which results in increased iron absorption. The liver is crucial for iron homeostasis as it is the main production site of hepcidin. The aim of this study was to explo...

Journal: :Yearbook of medical informatics 2014
V L Patel T G Kannampallil

OBJECTIVES Recent federal mandates and incentives have spurred the rapid growth, development and adoption of health information technology (HIT). While providing significant benefits for better data integration, organization, and availability, recent reports have raised questions regarding their potential to cause medication errors, decreased clinician performance, and lowered efficiency. The g...

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2014
Cameron J McDonald Daniel F Wallace Lesa Ostini V Nathan Subramaniam

Treatment for iron deficiency anemia can involve iron supplementation via dietary or parenteral routes that result in different cellular iron distributions. The effect of the administered iron on the iron regulatory system and hepcidin in the liver has not been well studied. Hepcidin, the liver-expressed central iron-regulatory peptide, is itself regulated through the bone morphogenetic protein...

Journal: :Archives of neurology 2007
Nadia A Sutedja Richard J Sinke Paul W J Van Vught Michiel W Van der Linden John H J Wokke Cornelia M Van Duijn Omer T Njajou Yvonne T Van der Schouw Jan H Veldink Leonard H Van den Berg

BACKGROUND Mutations in HFE, a gene defect that can disrupt iron metabolism, have been implicated in increasing the risk of developing amyotrophic lateral sclerosis (ALS). OBJECTIVE To further establish the association between ALS and HFE mutations by investigating whether HFE mutations are associated with an increased risk of developing ALS in a population in The Netherlands and by pooling o...

Journal: :Fertility and sterility 2009
Alena Buretić-Tomljanović Ivan Vlastelić Andelka Radojcić Badovinac Nada Starcević-Cizmarević Sergej Nadalin Smiljana Ristić

OBJECTIVE To address the possibility that HFE mutations and TF gene polymorphism cause dysfunction of spermatogenesis and/or the hypothalamic-pituitary-gonadal axis via contribution to long-term iron overload in the testes and brain. DESIGN Case-control and association study. SETTING Clinic of obstetrics and gynecology and university-based research laboratory. PATIENT(S) 127 infertile men...

2012
Karolina Benesova Maja Vujić Spasić Sebastian M. Schaefer Jens Stolte Tomi Baehr-Ivacevic Katharina Waldow Zhe Zhou Ursula Klingmueller Vladimir Benes Marcus A. Mall Martina U. Muckenthaler

Regulation of iron homeostasis and the inflammatory response are tightly linked to protect the host from infection. Here we investigate how imbalanced systemic iron homeostasis in a murine disease model of hereditary hemochromatosis (Hfe(-/-) mice) affects the inflammatory responses of the lung. We induced acute pulmonary inflammation in Hfe(-/-) and wild-type mice by intratracheal instillation...

2003
Jean-Charles Faugère Antoine Joux

In this paper, we review and explain the existing algebraic cryptanalysis of multivariate cryptosystems from the hidden field equation (HFE) family. These cryptanalysis break cryptosystems in the HFE family by solving multivariate systems of equations. In this paper we present a new and efficient attack of this cryptosystem based on fast algorithms for computing Gröbner basis. In particular it ...

Journal: :Haematologica 1998
A Pietrangelo C Camaschella

BACKGROUND AND OBJECTIVES Hereditary hemochromatosis (HC) is an inborn error of iron metabolism that leads to progressive iron overload. Considerable advances in the knowledge of molecular events in iron metabolism have been recently obtained. These molecular findings, the cloning of the gene responsible for HC (HFE gene) and the results of preliminary studies on the HFE protein prompted us to ...

Journal: :Diabetes Care 2008
Timothy M.E. Davis John Beilby Wendy A. Davis John K. Olynyk Gary P. Jeffrey Enrico Rossi Conchita Boyder David G. Bruce

OBJECTIVE To examine the relationship between iron status, hereditary hemochromatosis (HFE) gene mutations, and clinical features and outcomes of type 2 diabetes in a well-characterized representative sample of community-based patients. RESEARCH DESIGN AND METHODS HFE genotype data were available for 1,245 type 2 diabetic patients from the longitudinal observational Fremantle Diabetes Study (...

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