Anna Montali
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View article: ANGPTL3 Deficiency and Risk of Hepatic Steatosis
ANGPTL3 Deficiency and Risk of Hepatic Steatosis Open
BACKGROUND: ANGPTL3 (angiopoietin-like 3) is a therapeutic target for reducing plasma levels of triglycerides and low-density lipoprotein cholesterol. A recent trial with vupanorsen, an antisense oligonucleotide targeting hepatic productio…
View article: Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long‐Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long‐Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events Open
Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic variants in FH‐causing genes as well as from a polygenic cause. We evaluated the relationships between monogenic FH and polygenic hypercholesterolemia in in…
View article: Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes Open
Objective: Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS) are the prototypes of monogenic and polygenic conditions underlying genetically based severe hypertriglyceridemia. These conditions have b…
View article: Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy
Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy Open
NAFLD is a polygenic condition but the individual and cumulative contribution of identified genes remains to be established. To get additional insight into the genetic architecture of NAFLD, GWAS-identified GCKR, PPP1R3B, NCAN, LYPLAL1 and…
View article: Effects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism
Effects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism Open
The consequences of angiopoietin-like protein 3 (ANGPTL3) deficiency on postprandial lipid and lipoprotein metabolism has not been investigated in humans. We studied 7 homozygous (undetectable circulating ANGPTL3 levels) and 31 heterozygou…
View article: Number of alleles (NA), polymorphism information content (PIC), observed (HO) and expected (HE) heterozygosity with standard deviation of the mean values within parenthesis and Hardy Weinberg (HW) tests.
Number of alleles (NA), polymorphism information content (PIC), observed (HO) and expected (HE) heterozygosity with standard deviation of the mean values within parenthesis and Hardy Weinberg (HW) tests. Open
*p<0.05;**p<0.01;***p<0.001;NS = non-significantNumber of alleles (NA), polymorphism information content (PIC), observed (HO) and expected (HE) heterozygosity with standard deviation of the mean values within parenthesis and Hardy Weinberg…
View article: Correction: Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects
Correction: Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects Open
[This corrects the article DOI: 10.1371/journal.pone.0120099.].
View article: Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects
Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects Open
The precursors of atherogenic dyslipidemia (AD) are not well defined. Therefore, we investigated 62 non-obese, non-diabetic AD and 221 normolipemic children. Anthropometric parameters, blood pressure and biochemical measures were obtained …