Associated Papers
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.
Alannan M et al.
Cells, 2022
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall.
Guo Y et al.
Journal of Cellular Physiology, 2021
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Xia XD et al.
Frontiers in Cardiovascular Medicine, 2021
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Identifying individual risk rare variants using protein structure guided local tests (POINT).
Marceau West R et al.
Plos Computational Biology, 2019
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
The study of familial hypercholesterolemia in Italy: A narrative review.
Bertolini S et al.
Atherosclerosis. Supplements, 2017
The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.
Feng Q et al.
The Pharmacogenomics Journal, 2017
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
Le QT et al.
The Journal of Biological Chemistry, 2015
Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.
Tsai CW et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.
Tran NT et al.
Frontiers in Genetics, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Alirocumab: PCSK9 inhibitor for LDL cholesterol reduction.
Tavori H et al.
Expert Review of Cardiovascular Therapy, 2014
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
Mabuchi H et al.
Atherosclerosis, 2014
Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.
Mayne J et al.
Lipids in Health and Disease, 2013
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Bertolini S et al.
Atherosclerosis, 2013
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
Wu Y et al.
Plos Genetics, 2013
Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.
Ferri N
Scientifica, 2012
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.
Tibolla G et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011
Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.
Xin F et al.
Bioinformatics (oxford, England), 2010
Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.
Soutar AK
Iubmb Life, 2010
[Familial hypercholesterolemia in Tunisia].
Jelassi A et al.
Pathologie-biologie, 2009
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
Fasano T et al.
Atherosclerosis, 2009
[Monogenic hypercholesterolemias: new genes, new drug targets].
Mandel'shtam MIu et al.
Genetika, 2008
A novel splicing variant of proprotein convertase subtilisin/kexin type 9.
Schmidt RJ et al.
Dna and Cell Biology, 2008
Molecular population genetics of PCSK9: a signature of recent positive selection.
Ding K et al.
Pharmacogenetics and Genomics, 2008
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
Homer VM et al.
Atherosclerosis, 2008
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
Ding K et al.
Plos One, 2007
Unravelling the functional significance of PCSK9.
Lambert G
Current Opinion in Lipidology, 2007
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK et al.
Nature Clinical Practice. Cardiovascular Medicine, 2007
[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].
Abifadel M et al.
Medecine Sciences : M/s, 2006
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
Pisciotta L et al.
Atherosclerosis, 2006
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
Kotowski IK et al.
American Journal of Human Genetics, 2006
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0