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
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
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.
Liu M et al.
Nutrients, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Effects of PCSK9 on thrombosis and haemostasis in a variety of metabolic states: Lipids and beyond (Review).
Chong S et al.
International Journal of Molecular Medicine, 2024
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Liu Z et al.
Nature Genetics, 2023
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.
Kamal A et al.
The American Journal of Case Reports, 2023
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.
Ma M et al.
Frontiers in Cardiovascular Medicine, 2023
Common and Rare PCSK9 Variants Associated with Low-Density Lipoprotein Cholesterol Levels and the Risk of Diabetes Mellitus: A Mendelian Randomization Study.
Hsu LA et al.
International Journal of Molecular Sciences, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.
Yang L et al.
Frontiers in Genetics, 2022
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
A cross-population atlas of genetic associations for 220 human phenotypes.
Sakaue S et al.
Nature Genetics, 2021
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
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
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Xia XD et al.
Frontiers in Cardiovascular Medicine, 2021
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.
Koyama S et al.
Nature Genetics, 2020
New Pharmacological Approaches to Target PCSK9.
Catapano AL et al.
Current Atherosclerosis Reports, 2020
Functional analysis of natural PCSK9 mutants in modern and archaic humans.
Mikaeeli S et al.
The Febs Journal, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 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
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q 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
Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lee C et al.
Lipids in Health and Disease, 2019
Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.
Yamada Y et al.
International Journal of Molecular Medicine, 2019
Associations Between Soluble LDLR and Lipoproteins in a White Cohort and the Effect of PCSK9 Loss-of-Function.
Mayne J et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.
Tajima T et al.
Scientific Reports, 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
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Heparan sulfate proteoglycans present PCSK9 to the LDL receptor.
Gustafsen C et al.
Nature Communications, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.
Yamada Y et al.
Oncotarget, 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.
Lee CJ et al.
Plos One, 2017
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Lu X et al.
Human Molecular Genetics, 2016
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.
Tang CS et al.
Nature Communications, 2015