Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R218S
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PCSK9

NM_174936.4:p.R218S

Associated Papers

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

Grejtakova D et al.

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

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

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

The Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

Insight into the Evolving Role of PCSK9.

Maligłówka M et al.

Metabolites, 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

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

Uribe KB et al.

International Journal of Molecular Sciences, 2021

PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Sundararaman SS et al.

Biomedicines, 2021

PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Matías-Pérez D et al.

Balkan Journal of Medical Genetics : Bjmg, 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

Insights into the kinetics and dynamics of the furin-cleaved form of PCSK9.

Oleaga C et al.

Journal of Lipid Research, 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

Efficacy and Safety of Alirocumab in Patients With Autosomal Dominant Hypercholesterolemia Associated With Proprotein Convertase Subtilisin/Kexin Type 9 Gain-of-Function or Apolipoprotein B Loss-of-Function Mutations.

Krempf M et al.

The American Journal of Cardiology, 2020

VLDL (Very-Low-Density Lipoprotein)-Apo E (Apolipoprotein E) May Influence Lp(a) (Lipoprotein [a]) Synthesis or Assembly.

Croyal M et al.

Arteriosclerosis, Thrombosis, and Vascular 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

Fragment-based design of small molecule PCSK9 inhibitors using simulated annealing of chemical potential simulations.

Guarnieri F et al.

Plos One, 2019

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

El Khoury P et al.

Current Atherosclerosis Reports, 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

PCSK9 as a therapeutic target for cardiovascular disease.

Zhang PY

Experimental and Therapeutic Medicine, 2017

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

Seidah NG et al.

Pharmacological Reviews, 2017

Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Wierød L et al.

Molecular Genetics and Metabolism Reports, 2016

Proprotein convertase subtilisin kexin type 9 and high-density lipoprotein metabolism: experimental animal models and clinical evidence.

Ferri N et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 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

Proteolytic cleavage of antigen extends the durability of an anti-PCSK9 monoclonal antibody.

Schroeder KM et al.

Journal of Lipid Research, 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

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

Alirocumab: PCSK9 inhibitor for LDL cholesterol reduction.

Tavori H et al.

Expert Review of Cardiovascular Therapy, 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 inhibition for the treatment of hypercholesterolemia: promises and emerging challenges.

Norata GD et al.

Vascular Pharmacology, 2014

Isolation and characterization of the circulating truncated form of PCSK9.

Han B et al.

Journal of Lipid Research, 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

PCSK9: a key modulator of cardiovascular health.

Seidah NG et al.

Circulation Research, 2014

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

The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Poirier S et al.

Drug Design, Development and Therapy, 2013

The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

de Almeida ER et al.

Biomed Research International, 2013

Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

Lipari MT et al.

The Journal of Biological Chemistry, 2012

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