8 documents found, page 1 of 1
HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Home...
Porto, Graça; Cruz, Eugénia; Teles, M.; de Sousa, MariaThe HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leuk...
Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mo...
Simão, Márcio; Camacho, António; Ostertag, Agnès; Cohen-Solal, Martine; Pinto, I. Jorge; Porto, Graça; Hang Korng, Ea; Cancela, M. LeonorOsteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood. The main objective of this study was to investigate the role of dietary iron on osteoporosis, using as biological model the Hfe-KO mice, which have a systemic iron overload. We showed that these mice show an increased susceptibility for developing a bone l...
Influência do fenótipo HLA e da razão CD4/CD8 na expressão da Doença hepática e...
Cruz, Eugénia; Porto, Graça; Fraga, José; Moreira, R.; Castro, D.; Alves, Helena; Leite, Fernanda; Bravo, Fernanda; Lacerda, Rosa; Cabeda, José M. B.
HFE variants and the expression of iron-related proteins in breast cancer-assoc...
Marques, Oriana; Rosa, Ana; Leite, Luciana; Faustino, Paula; Rêma, Alexandra; Martins da silva, Berta; Porto, Graça; Lopes, CarlosThe association of HFE (High Iron FE) major variants with breast cancer risk and behavior has been a matter of discussion for a long time. However, their impact on the expression of iron-related proteins in the breast cancer tissue has never been addressed. In the present study, hepcidin, ferroportin 1, transferrin receptor 1 (TfR1), and ferritin expressions, as well as tissue iron deposition were evaluated in ...
Crosstalk between genetics, gene expression and biochemical markers supports sy...
Crespo, Ângela C.; Silva, Bruno; Ferreira, Catarina; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela
Iron Related Gene Expression and Biochemical Phenotype Support Iron Homeostasis...
Crespo, Ângela; Silva, Bruno; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela; Vilares, Arminda; Couto, Frederico
Iron/copper metabolism in Alzheimer’s disease: genetics and biomarkers in a Por...
C. Crespo, Ângela; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela; Vilares, Arminda; Silva, BrunoThe distinction between normal aging and Alzheimer's disease (AD) is a relevant step to combat this disease efficiently. Thus, the identification of biomarkers and genetic factors underlying AD pathology is extremely important. Oxidative injury in the brain, mediated by the imbalance of redox-active metals as iron (Fe) and copper (Cu) has been recognized to contribute to the pathology of AD. In this context, we...
Clinical and genetic heterogeneity in hereditary haemochromatosis: association ...
Porto, Graça; CARDOSO, C.S.; GORDEUK, V.; CRUZ, E.; FRAGA, J.; AREIAS, J.; OLIVEIRA, J.C.; BRAVO, F.; GANGAIDZO, I.T.; MACPHAIL, A.P.; GOMO, Z.A.Eur J Haematol. 2001 Aug;67(2):110-8. Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload. Porto G, Cardoso CS, Gordeuk V, Cruz E, Fraga J, Areias J, Oliveira JC, Bravo F, Gangaidzo IT, MacPhail AP, Gomo ZA, Moyo VM, Melo G, Silva C, Justiça B, de Sousa M. Haematology, Santo António General Hospital, Porto, Portugal. gporto@ibm...