… Association Study and Identification of a Protective Missense Variant on Lipoprotein (a) Concentration: Protective Missense Variant on Lipoprotein (a) Concentration …

MA Said, MW Yeung, YJ van de Vegte… - … , and vascular biology, 2021 - Am Heart Assoc
missense variant that was associated with strong lipoprotein(a)-lowering effects in carriers of
the lipoprotein(a) increasing rs10455872 variant… The missense variant reported in this study …

Lipoprotein (a) concentration, genetic variants, apo (a) isoform size, and cellular cholesterol efflux in patients with elevated Lp (a) and coronary heart disease …

C Stefanutti, L Pisciotta, E Favari, S Di Giacomo… - Journal of Clinical …, 2020 - Elsevier
… All new missense variants were analyzed with in silico software PolyPhen and SIFT, predicting
the effect of mutation on the function of a protein. These 2 tools predict the effect resulting …

Case report: A novel apolipoprotein AI missense mutation apoA-I (Arg149Ser) Boston associated with decreased lecithin-cholesterol acyltransferase activation and …

P Anthanont, BF Asztalos, E Polisecki… - Journal of clinical …, 2015 - Elsevier
… is associated with decreased levels of high-density lipoprotein cholesterol and apoA-I. …
apoA-I missense mutations are associated with low HDL-C and apoA-I concentrations, whereas …

A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels

SA Khetarpal, X Zeng, JS Millar, C Vitali… - Nature medicine, 2017 - nature.com
… (h,i) TG (h) and cholesterol (i) concentrations in FPLC-separated plasma fractions from …
Lipoprotein fractions are indicated above the fraction numbers. (j) Postprandial TG concentrations

[HTML][HTML] A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms [S]

S Mack, S Coassin, R Rueedi, NA Yousri… - Journal of lipid …, 2017 - ASBMB
lipoprotein (a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes.
Concentrations … We aimed to identify genetic loci associated with Lp(a) concentrations

A novel homozygous missense mutation in the apo AI gene with apo AI deficiency

W Huang, J Sasaki, A Matsunaga… - … , and vascular biology, 1998 - Am Heart Assoc
… The concentrations of lipids, lipoproteins, and apolipoproteins in … -I variants have little
dominant effect on lipoproteins metabolism in vivo. To our knowledge, a homozygous, missense

Lipoprotein (a): Knowns, unknowns and uncertainties

M Ruscica, CR Sirtori, A Corsini, GF Watts… - Pharmacological …, 2021 - Elsevier
… For the missense SNP rs3798220 the risk of CHD was raised by 57% … concentrations of
lipoprotein(a) are better predictors of ASCVD risk than apolipoprotein(a) isoform size or variants

[HTML][HTML] Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin: cholesterol acyltransferase deficiency and …

P Conca, S Pileggi, S Simonelli, E Boer… - Journal of Clinical …, 2012 - Elsevier
… The presence of lipoprotein X was evaluated by lipoprotein electrophoresis on agarose
gels… The plasma concentration of HDL particles containing only apoA-I (LpA-I) and of particles …

Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase

L Pisciotta, A Ossoli, A Ronca, A Garuti, R Fresa… - Journal of Clinical …, 2022 - Elsevier
Lipoprotein (a) Gen.2, Roche Diagnostics). Plasma phospholipid (PL) and unesterified
cholesterol (UC) concentrations … -C concentrations confirmed in carriers of the LIPG variant the …

[HTML][HTML] Lipoprotein (a) beyond the kringle IV repeat polymorphism: the complexity of genetic variation in the LPA gene

S Coassin, F Kronenberg - Atherosclerosis, 2022 - Elsevier
lipoprotein(a) [Lp(a)] concentrations are one of the most important genetically determined
risk factors for cardiovascular disease. Lp(a) concentrations … 0.019 Missense variant causing …