Associated Papers
Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.
Costa ALDS et al.
Revista Da Associacao Medica Brasileira (1992), 2025
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y et al.
Atherosclerosis, 2024
Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations.
Koyama S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
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
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.
Los B et al.
Gene, 2023
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.
Razman AZ et al.
International Journal of Molecular Sciences, 2022
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C et al.
Pharmaceutics, 2022
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Functional analysis of PCSK9 3'UTR variants and mRNA-miRNA interactions in patients with familial hypercholesterolemia.
Los B et al.
Epigenomics, 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
Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.
Huijgen R et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.
Rimbert A et al.
Frontiers in Genetics, 2021
Beyond cholesterol metabolism: The pleiotropic effects of proprotein convertase subtilisin/kexin type 9 (PCSK9). Genetics, mutations, expression, and perspective for long-term inhibition.
Cesaro A et al.
Biofactors (oxford, England), 2020
A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.
Sarkar SK et al.
The Journal of Biological Chemistry, 2020
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
von Loga K et al.
Nature Communications, 2020
Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.
Jang HD et al.
European Heart Journal, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.
Sun YV et al.
Circulation. Genomic and Precision Medicine, 2018
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
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.
Di Taranto MD et al.
Scientific Reports, 2017
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS et al.
Science (new York, N.y.), 2016
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Lu X et al.
Human Molecular Genetics, 2016
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
Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.
Geschwindner S et al.
Protein Engineering, Design & Selection : Peds, 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
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Delio M et al.
Plos One, 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
Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.
Ly K et al.
The Journal of Biological Chemistry, 2014
An antibody against the C-terminal domain of PCSK9 lowers LDL cholesterol levels in vivo.
Schiele F et al.
Journal of Molecular Biology, 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
The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.
Saavedra YG et al.
The Journal of Biological Chemistry, 2012
Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.
Soutar AK
Iubmb Life, 2010
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
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
[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].
Abifadel M et al.
Medecine Sciences : M/s, 2006