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Variação genética associada ao nível de hemólise crónica na drepanocitose: um e...

The expression of the soluble HFE corresponding transcript is up-regulated by i...

Background and aims: Dietary iron absorption regulation is a key-step for the maintenance of body iron homeostasis. Besides the HFE full-length protein, the HFE gene codes for alternative splicing variants responsible for the synthesis of a soluble form of HFE protein (sHFE). Here we aimed to determine whether sHFE transcript levels respond to different iron conditions in duodenal, macrophage and hepatic cell m...

Fatores genéticos moduladores dos níveis elevados de hemoglobina fetal na Anemi...

A Drepanocitose ou Anemia das Células Falciformes (ACF) é uma anemia hereditária de transmissão autossómica recessiva caraterizada pela presença de hemoglobina S (HbS) devido à homozigotia para a mutação A>T no codão 6 do gene da beta-globina (HBB:c.20A>T). Embora se trate de uma doença monogénica, o seu fenótipo clínico é bastante heterogéneo. Este fato deve-se à influência modificadora tanto de fatores ambien...

Crosstalk between genetics, gene expression and biochemical markers supports sy...

The soluble HFE isoform – a regulator of iron absorption in the duodenum

Objective: Dietary iron absorption regulation is a key-step for body iron homeostasis. Once inside the enterocyte, iron is directed to the basolateral membrane being oxidized by hephaestin, which mediates iron efflux towards circulatory transferrin in cooperation with ferroportin. Besides the HFE full-length protein, the HFE gene codes for alternative splicing transcripts responsible for the synthesis of a solu...

Variantes genéticas da hormona hepcidina contribuem para aumentar os níveis da ...

Terra em transformação : avaliação de questões e atividades práticas em manuais...

Os manuais escolares devem promover o desenvolvimento de capacidades de resolução de problemas, pensamento crítico e criativo e de competências para planear uma pesquisa ou investigação. Algumas das estratégias importantes consistem na formulação de questões e na realização de atividades práticas no ensino das Ciências Naturais. O objetivo geral deste trabalho foi avaliar as questões e atividades práticas inclu...

Duodenal Cytochrome B and Hephaestin Expression is Regulated by the Soluble HFE...

INTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and iron deposition in organs such as liver, heart and pancreas, potentially leading to cirrhosis, hepatocelular carcinoma, diabetes, cardiac failure and arthritis. This disorder is mainly due to mutations in HFE gene. HFE protein associates with beta-2 microglobulin (B2M) for traff...

Clinical impact of HFE Mutations in portuguese patients with Chronic Hepatitis C

INTRODUCTION: Chronic hepatitis C (CHC) is often associated with alterations in iron and lipid metabolisms, which may affect the long-term prognosis and the response to antiviral treatment. Some studies suggested that the occurrence of HFE mutations may contribute to modulate these metabolisms in CHC. Here, the prevalence of two HFE mutations (C282Y and H63D) was determined in a group of Portuguese CHC patients...

Iron Related Gene Expression and Biochemical Phenotype Support Iron Homeostasis...