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

Prémio de melhor poster.

Protein networks related to familial hypercholesterolemia gene

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...

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

e_COR – Prevalência de factores de risco cardiovascular na população portuguesa...

Dislipidemia hereditária VS dislipidemia ambiental em crianças portuguesas

A hipercolesterolemia é um importante factor de risco cardiovascular (CV) cuja origem pode ser ambiental ou genética. A identificação de uma população jovem com elevado risco CV permite uma intervenção precoce, adiando ou suprimindo a ocorrência de doença cardiovascular na vida adulta. A Hipercolesterolemia Familiar (FH) está associada a um elevado risco CV e resulta de mutações em três genes do metabolismo dos...

O método de cascade screening na identificação de doentes com hipercolesterolem...

A Hipercolesterolemia Familiar (FH) é uma doença genética do metabolismo lipídico causada por mutações nos genes LDLR, APOB e PCSK9. Caracteriza-se clinicamente por níveis elevados de colesterol LDL, que se vão depositando nas artérias conduzindo ao desenvolvimento de doenças cardiovasculares prematuras. De acordo com a frequência europeia (1:500) estima-se que existam cerca de 20.000 indivíduos afectados com F...

Portuguese experience on cascade screening of index patients with FH