نتایج جستجو برای: موتاسیون hfe

تعداد نتایج: 2354  

2012
Farhad Zamani Zohreh Bagheri Maryam Bayat Seyed-Mohammad Fereshtehnejad Ali Basi Hossein Najmabadi Hossein Ajdarkosh

BACKGROUND Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH. MATERIAL/METHODS In this cross-sectional study, 12 HH patients were recruited, who were referred to Firoozgar Hospital, Tehra...

Journal: :Genetics and molecular research : GMR 2011
R P Savegnago M E Buzanskas B N Nunes S B Ramos M C Ledur K Nones D P Munari

Studies estimating genetic parameters for reproductive traits in chickens can be useful for understanding and improvement of their genetic architecture. A total of 1276 observations of fertility (FERT), hatchability of fertile eggs (HFE) and hatchability of total eggs (HTE) were used to estimate the genetic and phenotypic parameters of 467 females from an F2 population generated by reciprocal c...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
X Y Zhou S Tomatsu R E Fleming S Parkkila A Waheed J Jiang Y Fei E M Brunt D A Ruddy C E Prass R C Schatzman R O'Neill R S Britton B R Bacon W S Sly

Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and progressive iron storage that results in damage to major organs in the body. Recently, a candidate gene for HH called HFE encoding a major histocompatibility complex class I-like protein was identified by positional cloning. Nearly 90% of Caucasian HH patients have been found t...

Journal: :Haematologica 2012
Sara Balesaria Rumeza Hanif Mohamed F Salama Kishor Raja Henry K Bayele Harry McArdle Surjit K S Srai

BACKGROUND Iron metabolism during pregnancy maintains fetal iron levels at the expense of the mother. The mechanism behind this regulation is still not clear despite recent advances. Here we examine the role of maternal and fetal Hfe, its downstream signaling molecule, hepcidin and dietary iron in the regulation of placental iron transfer. DESIGN AND METHODS Hfe wild-type, knockout and hetero...

Journal: :Work 2012
Pascale Carayon

Recent developments of research and application of Human Factors and Ergonomics (HFE) are described, in particular the domain of healthcare delivery. HFE activities in this domain are highlighted and challenges for the discipline and the International Ergonomics Association are presented.

2012
Katarzyna Sikorska

I read with the interest the paper by Jowkar et al. published in a recent issue of Hepatitis Monthly (1). The authors analysed the frequency of two HFE gene mutations in Iranian patients with a diagnosis of cryptogenic cirrhosis. In Europe, North America and Australia the homozygous C282Y mutation of the HFE gene is a major etiological factor associated with the pathogenesis of progressive iron...

Journal: :Anticancer Research 2021

Background/Aim: We have previously reported the identification of cytotoxic chemotype compound-I (CC-I) from a chemical library screening against glioblastoma. Materials and Methods: The biological activity CC-I on drug-resistant neuroblastomas [e.g., HFE gene variant C282Y stably transfected human neuroblastoma SH-SY5Y cells (C282Y HFE/SH-SY5Y), SK-N-AS] was characterized using cell culture mo...

Journal: :The Journal of biological chemistry 2000
A P West M J Bennett V M Sellers N C Andrews C A Enns P J Bjorkman

The transferrin receptor (TfR) interacts with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis. A second receptor for Tf, TfR2, was recently identified and found to be functional for iron uptake in transfected cells (Kawabata, H., Germain, R. S., Vuong, P. T., Nakamaki, T., Said, J. W., and Koeffler, H. P. (2000) J. Biol. Ch...

2003
Christine E. McLaren Kuo-Tung Li Chad P. Garner Ernest Beutler Victor R. Gordeuk

The goal of this study was to determine whether statistical modeling of population data for a phenotypic marker could reflect a major locus gene defect. Identifying mutations in the HFE gene makes it possible to assess the association between transferrin saturation (TS) subpopulations and HFE mutations. Data were analyzed from 27 895 white patients who attended a health appraisal clinic and who...

Journal: :Blood 2003
Christine E McLaren Kuo-Tung Li Chad P Garner Ernest Beutler Victor R Gordeuk

The goal of this study was to determine whether statistical modeling of population data for a phenotypic marker could reflect a major locus gene defect. Identifying mutations in the HFE gene makes it possible to assess the association between transferrin saturation (TS) subpopulations and HFE mutations. Data were analyzed from 27 895 white patients who attended a health appraisal clinic and who...

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