Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.F216L
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PCSK9

NM_174936.4:p.F216L

Associated Papers

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

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?

Tandirerung FJ

Cardiovascular Drugs and Therapy, 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

PCSK9 Inhibitors: The Evolving Future.

Jeswani BM et al.

Health Science Reports, 2024

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

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 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

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Gene transfer and genome editing for familial hypercholesterolemia.

Canepari C et al.

Frontiers in Molecular Medicine, 2023

PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Alannan M et al.

Cells, 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 Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 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

Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Hindi NN et al.

Journal of Personalized Medicine, 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

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Lacaze P et al.

Open Heart, 2021

34341098 (PubMed )
Supplement: openhrt-2021-001710supp001.xlsx › RPVs_literature

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

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

In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

Martin WR et al.

International Journal of Molecular Sciences, 2020

Functional analysis of natural PCSK9 mutants in modern and archaic humans.

Mikaeeli S et al.

The Febs Journal, 2020

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

PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Li YY et al.

Frontiers in Cardiovascular Medicine, 2020

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.

Sánchez-Hernández RM et al.

Atherosclerosis, 2019

Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Seidah NG et al.

Cardiovascular Research, 2019

A single domain antibody against the Cys- and His-rich domain of PCSK9 and evolocumab exhibit different inhibition mechanisms in humanized PCSK9 mice.

Essalmani R et al.

Biological Chemistry, 2018

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.

Iacocca MA et al.

The Canadian Journal of Cardiology, 2018

The Evolving Future of PCSK9 Inhibitors.

Rosenson RS et al.

Journal of the American College of Cardiology, 2018

Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Eroğlu Z et al.

Anatolian Journal of Cardiology, 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

PCSK9 inhibition in the management of familial hypercholesterolemia.

Ogura M

Journal of Cardiology, 2018

PCSK9 rs7552841 is associated with plasma lipids profiles in female Chinese adolescents without posttraumatic stress disorder.

Guo Q et al.

Bioscience Trends, 2017

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.

El Khoury P et al.

Current Atherosclerosis Reports, 2017

PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Kaya E et al.

Anatolian Journal of Cardiology, 2017

Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Glerup S et al.

Basic Research in Cardiology, 2017

The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Seidah NG

Global Cardiology Science & Practice, 2017

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Seidah NG et al.

Pharmacological Reviews, 2017

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in lipid metabolism, atherosclerosis and ischemic stroke.

Zhang L et al.

The International Journal of Neuroscience, 2016

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Hopkins PN et al.

Circulation. Cardiovascular Genetics, 2015

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Proprotein convertase subtilisin/kexin type 9 inhibition: a new therapeutic mechanism for reducing cardiovascular disease risk.

Bergeron N et al.

Circulation, 2015

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

The promise of proprotein convertase subtilisin/kexin 9 inhibitors for the treatment of familial hypercholesterolemia.

Pokharel Y et al.

Current Atherosclerosis Reports, 2015

Genetics of familial hypercholesterolemia.

Brautbar A et al.

Current Atherosclerosis Reports, 2015

Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.

Awan Z et al.

Clinical Chemistry, 2014

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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."