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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...

O papel dos media no escândalo político: a propósito do processo Casa Pia

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Ciências da Comunicação – especialização em Comunicação Estratégica. ; A dissertação apresentada pretende analisar o escândalo mediático português de 2002, o caso da Casa Pia de Lisboa, e compreender o papel dos media e verificar se existe uma diferenciação no tratamento da imprensa de referencia e popular neste...

A soluble HFE splice variant seems to regulate the expression of duodenal cytoc...

INTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and pathological iron deposition in organs such as liver, heart and pancreas. The disease is predominantly caused by homozygosity for the p.C282Y mutation in HFE, which impairs protein association with its chaperone beta-2 microglobulin (B2M), for correct folding and traffic to the c...

Alternative polyadenylation and nonsense-mediated decay coordinately regulate t...

Nonsense-mediated decay (NMD) is an mRNA surveillance pathway that selectively recognizes and degrades defective mRNAs carrying premature translation-termination codons. However, several studies have shown that NMD also targets physiological transcripts that encode full-length proteins, modulating their expression. Indeed, some features of physiological mRNAs can render them NMD-sensitive. Human HFE is a MHC cl...

Differential HFE Gene Expression is Regulated by Alternative Splicing in Human ...

Background - The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants....

Post-transcriptional regulation of HFE gene expression

Thesis presented to obtain the Ph.D. degree in Biology (Molecular Genetics), by the Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia. ; O ferro é um elemento essencial em diversos processos metabólicos celulares. O desafio que se coloca para a maioria dos organismos prende-se com o controlo do ferro absorvido de modo a suprir as necessidades destes processos evitando, no entanto, os danos causad...

Cardiorespiratory fitness predicts later body mass index, but not other cardiov...

Developmental expression of DAX1 in the European sea bass, Dicentrarchus labrax...

DAX1 (NR0B1), a member of the nuclear receptors super family, has been shown to be involved in the genetic sex determination and in gonadal differentiation in several vertebrate species. In the aquaculture fish European sea bass, Dicentrarchus labrax, and in the generality of fish species, the mechanisms of sex determination and differentiation have not been elucidated. The present study aimed at characterizing...

Developmental expression of DAXI in the European sea bass, Dicentrarchus labrax...

Background: DAX1 (NR0B1), a member of the nuclear receptors super family, has been shown to be involved in the genetic sex determination and in gonadal differentiation in several vertebrate species. In the aquaculture fish European sea bass, Dicentrarchus labrax, and in the generality of fish species, the mechanisms of sex determination and differentiation have not been elucidated. The present study aimed at ch...