HFE gene polymorphisms in Malays by Jatta, Francis

“…The aim of this study is to evaluate variations within the HFE gene in Malays. A total of 35 blood samples were collected and genotyped for C282Y, H63D, and S65C using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). …”
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HFE gene mutations in Brazilian thalassemic patients by T.M. Oliveira, F.P. Souza, A.C.G. Jardim, J.A. Cordeiro, J.R.R. Pinho, R. Sitnik, I.F. Estevão, C.R. Bonini-Domingos, P. Rahal

“…Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. …”
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HFE gene mutations in coronary atherothrombotic disease by R.T. Calado, R.F. Franco, A. Pazin-Filho, M.V. Simões, J.A. Marin-Neto, M.A. Zago

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FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS by Dr. Noreen, Tariq Bin Sharif, Naveed Asif, Hamza Akhtar, Dr. Quratulain, Waqas Hanif

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Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients by F.V. Perícole, M.A.V.R. Alves, S.T.O. Saad, F.F. Costa

“…We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. …”
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HFE gene mutations and iron status of Brazilian blood donors by P.C.J.L. Santos, R.D. Cançado, C.T. Terada, S. Rostelato, I. Gonzales, R.D.C. Hirata, M.H. Hirata, C.S. Chiattone, E.M. Guerra-Shinohara

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Differential HFE gene expression is regulated by alternative splicing in human tissues. by Rute Martins, Bruno Silva, Daniela Proença, Paula Faustino

“…Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. …”
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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis by Paulo Lisboa Bittencourt, Maria Lúcia Carnevale Marin, Cláudia Alves Couto, Eduardo Luiz Rachid Cançado, Flair José Carrilho, Anna Carla Goldberg

“…Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). …”
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Detection of C282Y and H63D in the HFE gene. by Pointon, J, Merryweather-Clarke, A, Carella, M, Robson, K

Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project. by Lehmann, D, Schuur, M, Warden, DR, Hammond, N, Belbin, O, Kölsch, H, Lehmann, MG, Wilcock, G, Brown, K, Kehoe, P, Morris, C, Barker, R, Coto, E, Alvarez, V, Deloukas, P, Mateo, I, Gwilliam, R, Combarros, O, Arias-Vásquez, A, Aulchenko, Y, Ikram, M, Breteler, M, van Duijn, C, Oulhaj, A, Heun, R

Transferrin and HFE genes interact in Alzheimer's disease risk: The Epistasis Project by Lehmann, D, Schuur, M, Warden, DR, Hammond, N, Belbin, O, Kölsch, H, Lehmann, MG, Wilcock, G, Brown, K, Kehoe, P, Morris, C, Barker, R, Coto, E, Alvarez, V, Deloukas, P, Mateo, I, Gwilliam, R, Combarros, O, Arias-Vásquez, A, Aulchenko, Y, Ikram, M, Breteler, M, van Duijn, C, Oulhaj, A, Heun, R

Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients by Manal Michel Wilson, Hanan Al-Wakeel, Fadwa Said, Mona El-Ghamrawy, Mary Assaad, Amal El-Beshlawy

“…Background: HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. …”
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HFE gene variants, iron, and lipids: a novel connection in Alzheimer’s disease by Fatima eAli-Rahmani, Cara-Lynne eSchengrund, James eConnor

“…In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. …”
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Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience by Robson, K, Merryweather-Clark, A, Pointon, J, Shearman, J, Halsall, D, Kelly, A, Cox, T, Rosenberg, WM, Howell, M, Eccles, D, Patch, C, Fowler, A, Wallace, D, Camaschella, C, Roetto, A, Zecchina, G, De Gobbi, M, Gasparini, P, Cadet, E, Vandwalle, J, Capron, D, Rochette, J, Borot, N, Demangel, C, Dery, R

Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity by Dilum Ekanayake, Clinton Roddick, Murtaza Khanbhai, Lawrie W. Powell

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Hemocromatose hereditária e as mutações no gene HFE Hereditary hemochromatosis and HFE gene mutations by Claudia R. Bonini-Domingos

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Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis by M.M. Deguti, A.M. Sipahi, L.C.C. Gayotto, S.A. Palácios, P.L. Bittencourt, A.C. Goldberg, A.A. Laudanna, F.J. Carrilho, E.L.R. Cançado

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Iron metabolism and hepcidin concentration in teenagers before and after exercise in relation to the HFE gene status by BARBARA KACZOROWSKA-HAĆ, MARCIN ŁUSZCZYK, JĘDRZEJ ANTOSIEWCZ, JAN JACEK KACZOR

Subjects: “…hfe gene…”
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C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells. by Fatima Ali-Rahmani, Michael A Huang, C-L Schengrund, James R Connor, Sang Y Lee

“…Although disruptions in the maintenance of iron and cholesterol metabolism have been implicated in several cancers, the association between variants in the HFE gene that is associated with cellular iron uptake and cholesterol metabolism has not been studied. …”
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Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies by M. Li, L. Wang, W. Wang, X.L. Qi, Z.Y. Tang

“…The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis. …”
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