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A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
- T. Fasano, A. Cefalù, P. Tarugi
- Medicine, BiologyArteriosclerosis, thrombosis, and vascular…
- 1 March 2007
A novel inactivating mutation as well as some rare nonconservative amino acid substitutions of PCSK9 in white hypocholesterolemic individuals are discovered.
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
- A. Cefalù, D. Noto, M. Averna
- Medicine, BiologyThe Journal of clinical endocrinology and…
- 1 November 2009
Investigation of LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertrigenidemia and recurrent episodes of pancreatitis.
Enhanced Lipid Peroxidation and Platelet Activation as Potential Contributors to Increased Cardiovascular Risk in the Low‐HDL Phenotype
- N. Vazzana, A. Ganci, G. Davı̀
- Medicine, BiologyJournal of the American Heart Association
- 1 April 2013
A low HDL phenotype, both in CHD patients and in healthy subjects, is associated with increased lipid peroxidation and platelet activation, as determinants of atherothrombosis.
Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles.
Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: the Ventimiglia di Sicilia project
The Ventimiglia di Sicilia Study highlights the great importance of overweight and obesity as a public health issue in a rural population and indicates that it is necessary to consider the impact of body weight and fat distribution on both total and CHD mortality.
No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease