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Alterações fenotípicas e genéticas do metabolismo do ferro numa população portu...

Non-Transferrin-Bound Iron (NTBI) Uptake by T Lymphocytes: Evidence for the Sel...

Iron is an essential nutrient in several biological processes such as oxygen transport, DNA replication and erythropoiesis. Plasma iron normally circulates bound to transferrin. In iron overload disorders, however, iron concentrations exceed transferrin binding capacity and iron appears complexed with low molecular weight molecules, known as non-transferrin-bound iron (NTBI). NTBI is responsible for the toxicit...

Effects of highly conserved major histocompatibility complex (MHC) extended hap...

Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus. Although its genetic homogeneity, the phenotypic expression is variable suggesting the presence of modifying factors. One such genetic factor, a SN...

A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts ...

Abstract BACKGROUND: Hereditary Hemochromatosis(HH) is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of ...

Iron overload and immunity

World J Gastroenterol. 2007 Sep 21;13(35):4707-15. Iron overload and immunity. Porto G, De Sousa M. Institute of Molecular and Cellular Biology, Rua do Campo Alegre, Porto 8234150, Portugal. gporto@ibmc.up.pt Abstract Progress in the characterization of genes involved in the control of iron homeostasis in humans and in mice has improved the definition of iron overload and of the cells affected by it. The cel...

A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis s...

Abstract BACKGROUND: It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the region associated with the setting of CD8+ T-lymphocyte numbers in a population of C282Y homozygous hemochromatosis subjects, in whom a high prevalence of abnormally low CD8+ T-lymphocyte c...

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter sh...

Blood. 2005 Oct 15;106(8):2922-3. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. Porto G, Roetto A, Daraio F, Pinto JP, Almeida S, Bacelar C, Nemeth E, Ganz T, Camaschella C. PMID: 16204153 [PubMed - indexed for MEDLINE]Free Article Publication Types, MeSH Terms, SubstancesPublication...

Low serum transferrin levels in HFE C282Y homozygous subjects are associated wi...

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):319-25. Epub 2005 Sep 1. Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers. Macedo MF, Cruz E, Lacerda R, Porto G, de Sousa M. SourceDivision of Human Genetics and Genetic Disorders, Iron Genes and the Immune System Laboratory, Institute for Molecular and Cell Biology (IBMC), Oporto, Portugal. Abstract Hered...

The soluble transferrin receptor as a marker of iron homeostasis in normal subj...

Background and Objectives. The soluble transferrin receptor (sTfR) is a clinical marker of erythropoietic activity, also used in the diagnosis of iron deficiency. In the present paper we explore the meaning of this parameter in normal physiological conditions of iron homeostasis and in the setting of iron overload due to hereditary hemochromatosis (HH). Design and Methods. Reference values for sTfR were establi...

Growth hormone (GH)‐induced reconstitution of CD8+ CD28+ T lymphocytes in a rar...

Clin Endocrinol (Oxf). 2004 Oct;61(4):437-40. Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndrome. Porto G, Cruz E, Miranda HP, Porto B, Vasconcelos JC, Lacerda R, Roetto A, Daraio F, Bacelar C. Santo António General Hospital, Porto, Portugal. gporto@ibmc.up.pt Abstract This paper describes...