Associated Papers
Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.
Takeuchi F et al.
Journal of Atherosclerosis and Thrombosis, 2026
Little Evidence of Atherosclerosis in a Middle-Aged Japanese Woman with Familial Hypercholesterolemia Carrying PCSK9 (p.Glu32Lys) and ABCG8 (p.Ile419Asn) Variants Despite Elevated Lipoprotein(a) Levels.
Aono K et al.
Internal Medicine (tokyo, Japan), 2025
PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.
Grejtakova D et al.
Cardiovascular Drugs and Therapy, 2025
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Impact of the clinical diagnostic strata of familial hypercholesterolemia on risk stratification among patients with hypercholesterolemia.
Tada H et al.
Atherosclerosis, 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
Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?
Tandirerung FJ
Cardiovascular Drugs and Therapy, 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
Enhancing Familial Hypercholesterolemia Detection in South Korea: A Targeted Screening Approach Integrating National Program and Genetic Cascade Screening.
Yang JH et al.
Korean Circulation Journal, 2024
Nonalcoholic Fatty Liver Disease Risk and Proprotein Convertase Subtilisin Kexin 9 in Familial Hypercholesterolemia Under Statin Treatment.
Hamasaki M et al.
Nutrients, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2024
Familial hypercholesterolemia with special focus on Japan.
Kobayashi J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y et al.
Jama Cardiology, 2024
Drug development advances in human genetics-based targets.
Zhang X et al.
Medcomm, 2024
Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database.
Takeji Y et al.
Jacc. Asia, 2023
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants.
Noda K et al.
Neurology. Genetics, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
Guidelines for the Diagnosis and Treatment of Adult Familial Hypercholesterolemia 2022.
Harada-Shiba M et al.
Journal of Atherosclerosis and Thrombosis, 2023
Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.
Los B et al.
Gene, 2023
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C et al.
Hgg Advances, 2023
γGT and PCSK9 variants in subjects with hyper-LDL-cholesterolemia.
Kotani K et al.
Acta Bio-medica : Atenei Parmensis, 2022
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.
Kim H et al.
Journal of Atherosclerosis and Thrombosis, 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
Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.
Matsunaga K et al.
Journal of Atherosclerosis and Thrombosis, 2022
How Can We Identify Very High-Risk Heterozygous Familial Hypercholesterolemia?
Kataoka Y et al.
Journal of Atherosclerosis and Thrombosis, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
Nagahara K et al.
Journal of Atherosclerosis and Thrombosis, 2022
Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?
Hori M
Journal of Atherosclerosis and Thrombosis, 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
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia.
Sasaki K et al.
Frontiers in Cardiovascular Medicine, 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
A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.
Uribe KB et al.
International Journal of Molecular Sciences, 2021
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia.
Nomura A et al.
Journal of Human Genetics, 2021
LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.
Hamasaki M et al.
Journal of Clinical Laboratory Analysis, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Familial hypercholesterolemia in Southeast and East Asia.
Jackson CL et al.
American Journal of Preventive Cardiology, 2021
Functional analysis of PCSK9 3'UTR variants and mRNA-miRNA interactions in patients with familial hypercholesterolemia.
Los B et al.
Epigenomics, 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