Associated Papers
Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.
Tarique M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Characterization of shared and ancestry-specific signals driving complex traits using multi-ancestry fine-mapping.
Mirmira T et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Insight into the role of PCSK9 in glucose metabolism.
Xu JN et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.
Wei Y et al.
Protein & Cell, 2023
Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.
Los B et al.
Gene, 2023
PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.
Alannan M et al.
Cells, 2022
PCSK9 inhibition and cholesterol homeostasis in insulin producing β-cells.
Päth G et al.
Lipids in Health and Disease, 2022
Molecular and cellular biology of PCSK9: impact on glucose homeostasis.
Tchéoubi SER et al.
Journal of Drug Targeting, 2022
The role of PCSK9 in NAFLD/NASH and therapeutic implications of PCSK9 inhibition.
Momtazi-Borojeni AA et al.
Expert Review of Clinical Pharmacology, 2022
Variant interpretation using population databases: Lessons from gnomAD.
Gudmundsson S et al.
Human Mutation, 2022
The biological relevance of PCSK9: when less is better….
Mbikay M et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2022
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
Pott J et al.
Human Molecular Genetics, 2022
Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.
Grewal T et al.
International Journal of Molecular Sciences, 2022
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
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
Association Between Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Concentrations and Cardiovascular Events in Cardiovascular Disease: A Systemic Review and Meta-Analysis.
Liu J et al.
Frontiers in Cardiovascular Medicine, 2021
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.
Tada H et al.
Internal Medicine (tokyo, Japan), 2020
Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.
Guo S et al.
Advances in Experimental Medicine and Biology, 2020
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
C679X loss-of-function PCSK9 variant is associated with lower fasting glucose in black South African adolescents: Birth to Twenty Plus Cohort.
Chikowore T et al.
Journal of Clinical & Translational Endocrinology, 2019
Identifying individual risk rare variants using protein structure guided local tests (POINT).
Marceau West R et al.
Plos Computational Biology, 2019
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D et al.
Nature Genetics, 2018
C679X loss-of-function PCSK9 variant lowers fasting glucose levels in a black South African population: A longitudinal study.
Chikowore T et al.
Diabetes Research and Clinical Practice, 2018
Complex genetic architecture in severe hypobetalipoproteinemia.
Wang LR et al.
Lipids in Health and Disease, 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
Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.
Arama C et al.
Plos One, 2018
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.
Feng Q et al.
The Pharmacogenomics Journal, 2017
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Lu X et al.
Human Molecular Genetics, 2016
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.
Maurer F et al.
Swiss Medical Weekly, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 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 inhibition in LDL cholesterol reduction: genetics and therapeutic implications of very low plasma lipoprotein levels.
Marais AD et al.
Pharmacology & Therapeutics, 2015
Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study.
Zambrano T et al.
International Journal of Clinical and Experimental Medicine, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Abifadel M et al.
Current Atherosclerosis Reports, 2014
PCSK9: a key modulator of cardiovascular health.
Seidah NG et al.
Circulation Research, 2014
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Lange LA et al.
American Journal of Human Genetics, 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
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
Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.
Al-Waili K et al.
Oman Medical Journal, 2013
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