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ApoB/ApoA1 ratio improves clinical criteria sensitivity for the identification ...

Medeiros, A.M.; Alves, A.C.; Aguiar, P.; Bourbon, M.

Prémio de melhor poster.


Efeito da congelação e armazenamento de amostras de plasma na estabilidade de e...

Botelho, M.C.; Magalhães, M.C.; Miranda, A.; Bourbon, M.; Vicente, A.M.


Protein networks related to familial hypercholesterolemia gene

Alves, A.C.; Bourbon, M.

Familial hypercholesterolemia (FH) results mainly from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, commonly caused by a lossof-function mutation in the LDLR receptor gene (LDLR) or mutations in the gene coding apolipoprotein B (APOB) or rare dominant gain-of-function mutations in a member of the pro-protein convertase family (PCSK9). However, mutations which encode a prote...


Extended characterization of lipidic profile: evaluation of lipoprotein subfrac...

Leitão, F.; Berguete, S.; Santos, T.; Gomes, A.; Bourbon, M.

Dyslipidaemia is one major cause for atherosclerosis and cardiovascular disease. Atherogenicity of LDL particles vary with particle size, density and lipid composition. Smaller and denser subparticles are more atherogenic than the larger ones, so it’s important to quantify and know the type of sdLDL present in an individual in order to access cardiovascular risk. The aim of this study is to compare and evaluate...


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

Medeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.

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

Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.

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...

Medeiros, A.M.; Alves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.




Perfil de risco cardiovascular de estudantes do ensino secundário

Rocha, T.; Alves, A.; Medeiros, A.; Francisco, V.; Silva, S.; Guiomar, S.; Paixão, E.; Gaspar, I.; Rato, Q.; Bourbon, M.


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    Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia