Encontrados 7 documentos, a visualizar página 1 de 1

Pathogenicity assessment of LDLR variants in patients with Familial Hypercholes...

Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pa...

APOB: old gene, new perspective for Familial Hypercholesterolaemia

Familial hypercholesterolemia (FH) is one of the most common diseases of lipid metabolism, has an autosomal dominant inheritance and was the first genetic disorder of lipid metabolism to be characterized molecularly. FH usually results from inherited defects in the low density lipoprotein receptor (LDLR) gene and is characterised by increased circulating low density lipoprotein (LDL) cholesterol that leads to l...

Pathogenicity assessment of LDLR variant: a contribution for the correct manage...

Novas mutações funcionais no gene APOB causam hipercolesterolemia Familiar

Cyclic GMP regulation of the L-type Ca2+ channel current in human atrial myocytes

Testing and simulation of fractionary electromechanical rotative drives

This paper concerns the development of drives that use electromechanical rotative motor systems. It is proposed an experimental drive test structure integrated to simulation softwares. The objective of this work is to show that an affordable model validation procedure can be obtained by combining a precision data acquisition with well tuned state-of-the-art simulation packages. This is required for fitting, in ...

QUALITOM, A EUROPEAN RESEARCH PROGRAMME TO BUILD AND TEST A TECHNICAL ITINERARY...

Abstract: The aim of this programme is to provide farmers with tools for processing tomato crop management in various conditions in order to satisfy all of the following objectives: to produce a given yield of tomatoes, of good market and hygienic quality (given dry matter content, given pH, absence of chemical compounds harmful to human health) for the production of paste; to minimize the use of chemicals for...