Associated Papers
PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.
Grejtakova D et al.
Cardiovascular Drugs and Therapy, 2025
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 2025
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.
Zahwo RA et al.
Human Genomics, 2025
[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].
Hori M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 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
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
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
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Genetic basis of hypercholesterolemia in adults.
Saadatagah S et al.
Npj Genomic Medicine, 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
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
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Cao YX et al.
Journal of Translational Medicine, 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
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.
El Khoury P et al.
Current Atherosclerosis Reports, 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
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
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
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
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Han SM et al.
Plos One, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 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 gene mutations and low-density lipoprotein cholesterol.
Wu NQ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
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
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M et al.
Atherosclerosis, 2012
Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.
Ferri N
Scientifica, 2012
Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.
Tibolla G et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011
In vivo evidence that furin from hepatocytes inactivates PCSK9.
Essalmani R et al.
The Journal of Biological Chemistry, 2011
Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.
Soutar AK
Iubmb Life, 2010