نتایج جستجو برای: hfe gene

تعداد نتایج: 1142155  

Journal: :Biochimie 2015
Olivier Hermine Gérard Dine Vincent Genty Laurie-Anne Marquet Gabriela Fumagalli Muriel Tafflet Flavia Guillem Françoise Van Lierde Marie-Philippe Rousseaux-Blanchi Christian Palierne Jean-Claude Lapostolle Jean-Pierre Cervetti Alain Frey Xavier Jouven Philippe Noirez Jean-François Toussaint

The HFE gene encodes a protein involved in iron homeostasis; individuals with mutations in both alleles develop hemochromatosis. 27% of the French population is heterozygous for mutations in this gene. We found that 80% of the French athletes who won international competitions in rowing, Nordic skiing and judo display mutations in one allele of HFE, thus demonstrating the existence of a favoura...

Journal: :Gut 2003
V Boige L Castéra N de Roux N Ganne-Carrié B Ducot G Pelletier M Beaugrand C Buffet

BACKGROUND Liver cirrhosis may lead to hepatocellular carcinoma (HCC), regardless of its cause. Genetic and/or environmental factors may modulate the risk of HCC. Mutations in the HFE gene are responsible for genetic haemochromatosis, a condition known to be associated with liver cirrhosis, HCC, or both. It has recently been suggested that the C282Y HFE gene mutation may be more frequent in pat...

Journal: :Pediatrics 2001
K F Murray K V Kowdley

2010
David Cantonwine Howard Hu Martha Maria Téllez-Rojo Brisa N Sánchez Héctor Lamadrid-Figueroa Adrienne S Ettinger Adriana Mercado-García Mauricio Hernández-Avila Robert O Wright

BACKGROUND Neonatal growth is a complex process involving genetic and environmental factors. Polymorphisms in the hemochromatosis (HFE) iron regulatory genes have been shown to modify transport and toxicity of lead which is known to affect birth weight. METHODS We investigated the role of HFE C282Y, HFE H63 D, and transferrin (TF) P570 S gene variants in modifying the association of lead and ...

Journal: :Blood 2001
C R Chitambar J P Wereley

The gene for hemochromatosis (HFE) is expressed in a variety of cells, including those not thought to be affected by this disease. The impact of HFE on iron transport was examined in B-lymphoid cell lines developed from a patient with hemochromatosis with the HFE C282Y mutation (C282Y cells) and an individual with the wild-type HFE gene (WT cells). Whereas both cell lines expressed HFE protein,...

2015
Zhu Zhuo Susan J. Lamont William R. Lee Behnam Abasht Gudrun A. Brockmann

For economic and environmental reasons, chickens with superior feed efficiency (FE) are preferred in the broiler chicken industry. High FE (HFE) chickens typically have reduced abdominal fat, the major adipose tissue in chickens. In addition to its function of energy storage, adipose tissue is a metabolically active organ that also possesses endocrine and immune regulatory functions. It plays a...

Journal: :Clinical chemistry 2001
G Le Gac C Mura C Férec

BACKGROUND Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluated denaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations. METH...

Journal: :The European respiratory journal 2015
Federica Sangiuolo Ermanno Puxeddu Gabriella Pezzuto Francesco Cavalli Giuliana Longo Alessia Comandini Donato Di Pierro Marco Pallante Gianluigi Sergiacomi Giovanni Simonetti Maurizio Zompatori Augusto Orlandi Andrea Magrini Massimo Amicosante Francesca Mariani Monica Losi Daniela Fraboni Alberto Bisetti Cesare Saltini

In idiopathic pulmonary fibrosis (IPF), lung accumulation of excessive extracellular iron and macrophage haemosiderin may suggest disordered iron homeostasis leading to recurring microscopic injury and fibrosing damage. The current study population comprised 89 consistent IPF patients and 107 controls. 54 patients and 11 controls underwent bronchoalveolar lavage (BAL). Haemosiderin was assessed...

Journal: :Psychological science 2016
Joel T Nigg Alexis L Elmore Neil Natarajan Karen H Friderici Molly A Nikolas

Although attention-deficit/hyperactivity disorder (ADHD) is a heritable neurodevelopmental condition, there is also considerable scientific and public interest in environmental modulators of its etiology. Exposure to neurotoxins is one potential source of perturbation of neural, and hence psychological, development. Exposure to lead in particular has been widely investigated and is correlated w...

Journal: :Journal of Korean Medical Science 2000
J. Y. Lee K. H. Yoo S. H. Hahn

Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید