Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.C679*
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PCSK9

NM_174936.4:p.C679*

Associated Papers

Impact of loss-of-function variations of PCSK9 on LDLR interaction and dynamics: Implications for heart function.

Kulshreshtha A et al.

Biochemical and Biophysical Research Communications, 2026

PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

PCSK9 genetic variants, carotid atherosclerosis and vascular remodelling.

Coggi D et al.

Open Heart, 2025

The role of protective genetic variants in modulating epigenetic aging.

Bejaoui Y et al.

Geroscience, 2025

Investigating telomere length in progeroid syndromes: implications for aging disorders.

Srour L et al.

Aging, 2025

Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.

Liu M et al.

Nutrients, 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

Correlation of Eight (8) Polymorphisms and Their Genotypes with the Risk Factors of Cardiovascular Disease in a Black Elderly Population.

Chalwe JM et al.

Current Issues in Molecular Biology, 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

The Impact of PCSK9 Gene Polymorphisms on Ischemic Stroke: A Systematic Review and Meta-Analysis.

Wang J et al.

Journal of Integrative Neuroscience, 2024

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

Targeting proprotein convertase subtilisin/kexin type 9 (PCSK9): from bench to bedside.

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Pleiotropy of PCSK9: Functions in Extrahepatic Tissues.

Şener YZ et al.

Current Cardiology Reports, 2023

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

Insight into the role of PCSK9 in glucose metabolism.

Xu JN et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol.

Meng FH et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in the central nervous system.

Bell AS et al.

Neuroscience and Biobehavioral Reviews, 2023

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS et al.

Jama Cardiology, 2023

Serum proprotein convertase subtilisin/Kexin type 9 and vascular disease in type 2 diabetic patients.

Armentaro G et al.

European Journal of Clinical Investigation, 2023

Association of PCSK9 Loss-of-Function Variants With Risk of Heart Failure.

Trudsø LC et al.

Jama Cardiology, 2023

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.

Ma M et al.

Frontiers in Cardiovascular Medicine, 2023

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

Galvão Lopes V et al.

Journal of Biomolecular Structure & Dynamics, 2023

Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.

Gianazza E et al.

Frontiers in Cardiovascular Medicine, 2023

Proprotein Convertase Subtilisin/Kexin Type 9 Inhibition: The Big Step Forward in Lipid Control.

Rikhi R et al.

European Cardiology, 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

Recent Update on the Development of PCSK9 Inhibitors for Hypercholesterolemia Treatment.

Ahamad S et al.

Journal of Medicinal Chemistry, 2022

Molecular and cellular biology of PCSK9: impact on glucose homeostasis.

Tchéoubi SER et al.

Journal of Drug Targeting, 2022

The biological relevance of PCSK9: when less is better….

Mbikay M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2022

The Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.

Choudhury A et al.

Nature Communications, 2022

Insight into the Evolving Role of PCSK9.

Maligłówka M et al.

Metabolites, 2022

Engineered pegRNAs improve prime editing efficiency.

Nelson JW et al.

Nature Biotechnology, 2022

34608327 (PubMed )
Supplement: NIHMS1729173-supplement-Sup_tab.xlsx › ST6_-_Reference_SNPs_installed

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Lebeau PF et al.

Metabolites, 2022

Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.

Sun Q et al.

Journal of Human Genetics, 2022

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

Proprotein Convertase Subtilisin/Kexin Type 9: A View beyond the Canonical Cholesterol-Lowering Impact.

Macchi C et al.

The American Journal of Pathology, 2021

PCSK9 Biology and Its Role in Atherothrombosis.

Barale C et al.

International Journal of Molecular Sciences, 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

Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Tomlinson B et al.

Endocrinology and Metabolism (seoul, Korea), 2021

Development of a novel, fully human, anti-PCSK9 antibody with potent hypolipidemic activity by utilizing phage display-based strategy.

Xu M et al.

Ebiomedicine, 2021

Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms.

van Asch B et al.

Genetica, 2021

Unique roles of rare variants in the genetics of complex diseases in humans.

Momozawa Y et al.

Journal of Human Genetics, 2021

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

Rimbert A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

33207932 (PubMed )
Supplement: atvb_atvb-2020-315491d_supp2.pdf

The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Seidah NG

Journal of Lipid Research, 2021

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

microRNA-483 ameliorates hypercholesterolemia by inhibiting PCSK9 production.

Dong J et al.

Jci Insight, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."