Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R46L
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PCSK9

NM_174936.4:p.R46L

Associated Papers

Targeting of PCSK9 in the Management of Alzheimer's Disease: Expanding the New Potential Key Player.

Alanazi M et al.

Drug Development Research, 2026

Therapeutic Effects of PCSK9 Inhibitors on Lp(a)-Associated Atherosclerosis: Evidence and Perspectives.

Li X et al.

Journal of Cardiovascular Pharmacology, 2026

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

Molecular mechanisms of PCSK9 in cardiology: therapeutic implications and clinical impacts on the cardiorenal axis.

Kaur S et al.

Molecular and Cellular Biochemistry, 2026

Impact of genetic diversity of PCSK9 polymorphisms on coronary artery disease in a sample of Iraqi individuals.

Hadi RH et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2026

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

Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit.

Stinson SE et al.

American Journal of Human Genetics, 2025

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Alzheimer's Disease: Recent Advances and Controversies.

Zhang L et al.

Molecular Neurobiology, 2025

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

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

PCSK9 Loss-of-Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects.

Li X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

PCSK9 genetic variants, carotid atherosclerosis and vascular remodelling.

Coggi D et al.

Open Heart, 2025

Gain of function variants in PCSK9 gene in high risk patients after myocardial infarction with increased lipoprotein (a) values and treated with statins.

Ugovšek S et al.

Scientific Reports, 2025

RNA interference versus antibody-based PCSK9 inhibition for the prevention of cardiovascular disease: a drug-target Mendelian randomization study.

Gagnon E et al.

Cardiovascular Research, 2025

Large-scale genome-wide interaction analyses on multiple cardiometabolic risk factors to identify age-specific genetic risk factors.

Ao L et al.

Geroscience, 2025

Combining genetic proxies of drug targets and time-to-event analyses from longitudinal observational data to identify target patient populations.

Zhang L et al.

Bmc Cardiovascular Disorders, 2025

Identifying novel drug targets for calcific aortic valve disease through Mendelian randomization.

Xu D et al.

Atherosclerosis, 2025

Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes.

Munsch G et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Rare Genetic Variants in LDLR, APOB, and PCSK9 Are Associated With Aortic Stenosis.

Rämö JT et al.

Circulation, 2024

Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.

Carreras-Torres R et al.

Genome Medicine, 2024

Proprotein convertase subtilisin/kexin type 9 as a drug target for abdominal aortic aneurysm.

Golledge J et al.

Current Opinion in Lipidology, 2024

PCSK9 inhibition protects mice from food allergy.

Lorant V et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2024

A novel small-molecule PCSK9 inhibitor E28362 ameliorates hyperlipidemia and atherosclerosis.

Wang WZ et al.

Acta Pharmacologica Sinica, 2024

Proprotein convertase subtilisin/kexin type 9-inhibition across different patient populations.

Stürzebecher PE et al.

Current Opinion in Lipidology, 2024

The role of PCSK9 in metabolic dysfunction-associated steatotic liver disease and its impact on bariatric surgery outcomes.

Castellano-Castillo D et al.

Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery, 2024

Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Petrazzini BO et al.

Nature Genetics, 2024

Genetically proxied low-density lipoprotein cholesterol lowering via PCSK9-inhibitor drug targets and risk of congenital malformations.

Ardissino M et al.

European Journal of Preventive Cardiology, 2024

Major Genetic Drivers of Statin Treatment Response in African Populations and Pharmacogenetics of Dyslipidemia Through a One Health Lens.

Lusiki Z et al.

Omics : a Journal of Integrative Biology, 2024

Effect of the PCSK9 R46L genetic variant on plasma insulin and glucose levels, risk of diabetes mellitus and cardiovascular disease: A meta-analysis.

Liu S et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 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

GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.

Senftleber NK et al.

European Journal of Human Genetics : Ejhg, 2024

Function of proprotein convertase subtilisin/kexin type 9 and its role in central nervous system diseases: An update on clinical evidence.

Zhu XB et al.

Drug Development Research, 2024

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

Competing Genetic Traits and Their Influence on LDL Cholesterol Concentration in Familial Hypercholesterolemia.

Song C et al.

Jacc. Case Reports, 2024

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

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Assessing the Impact of PCSK9 and HMGCR Inhibition on Liver Function: Drug-Target Mendelian Randomization Analyses in Four Ancestries.

Rosoff DB et al.

Cellular and Molecular Gastroenterology and Hepatology, 2024

Genetic association of lipid-lowering drug target genes with erectile dysfunction and male reproductive health.

Su Q et al.

Frontiers in Endocrinology, 2024

Proprotein convertase subtilisin/kexin type 9 deficiency in extrahepatic tissues: emerging considerations.

Lu F et al.

Frontiers in Pharmacology, 2024

Causal relationships of familial hypercholesterolemia with the risk of multiple vitamin deficiencies: a Mendelian randomization study.

Zhang C et al.

Frontiers in Endocrinology, 2024

Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations.

Kheirkhah A et al.

Atherosclerosis, 2023

Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.

Roychowdhury T et al.

Nature Genetics, 2023

37845353 (PubMed )
Supplement: 41588_2023_1510_MOESM4_ESM.xls › S2

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

Exploring PCSK9 Genetic Impact on Lipoprotein(a) via Dual Approaches: Association and Mendelian Randomization.

Chang YC et al.

International Journal of Molecular Sciences, 2023

PCSK9 and the nervous system: a no-brainer?

Jaafar AK et al.

Journal of Lipid Research, 2023

The association between circulatory, local pancreatic PCSK9 and type 2 diabetes mellitus: The effects of antidiabetic drugs on PCSK9.

Lu F et al.

Heliyon, 2023

Low LDL Cholesterol Is Not an Independent Risk Factor for Hepatic Steatosis.

McHenry S et al.

Digestive Diseases and Sciences, 2023

Cardiomyocyte-specific PCSK9 deficiency compromises mitochondrial bioenergetics and heart function.

Laudette M et al.

Cardiovascular Research, 2023

Insight into the role of PCSK9 in glucose metabolism.

Xu JN et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

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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."