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
The Impact of PCSK9 on Diabetic Cardiomyopathy: Mechanisms and Implications.
Wang H et al.
Biomolecules, 2025
Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.
Takeji Y et al.
Journal of Atherosclerosis and Thrombosis, 2025
[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].
Hori M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2025
Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.
Costa ALDS et al.
Revista Da Associacao Medica Brasileira (1992), 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
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
Development of a PCSK9-targeted nanoparticle vaccine to effectively decrease the hypercholesterolemia.
Fang Q et al.
Cell Reports. Medicine, 2024
Genetic backgrounds and diagnosis of familial hypercholesterolemia.
Rogozik J et al.
Clinical Genetics, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.
Shaik NA et al.
Frontiers in Physiology, 2023
PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.
Alannan M et al.
Cells, 2022
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.
Razman AZ et al.
International Journal of Molecular Sciences, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.
Harada-Shiba M et al.
Journal of Atherosclerosis and Thrombosis, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.
Fahed AC et al.
Jama Network Open, 2022
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
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
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.
Doi T et al.
Journal of the American Heart Association, 2021
Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.
Huijgen R et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Xia XD et al.
Frontiers in Cardiovascular Medicine, 2021
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC et al.
Nature Communications, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.
Martin WR et al.
International Journal of Molecular Sciences, 2020
A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.
Sarkar SK et al.
The Journal of Biological Chemistry, 2020
Molecular diagnosis methods in familial hypercholesterolemia.
Moldovan V et al.
Anatolian Journal of Cardiology, 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 Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.
Sánchez-Hernández RM et al.
Atherosclerosis, 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
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
The study of familial hypercholesterolemia in Italy: A narrative review.
Bertolini S et al.
Atherosclerosis. Supplements, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS et al.
Science (new York, N.y.), 2016
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.
Poirier S et al.
Plos One, 2016