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
[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].
Hori M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2025
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
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
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
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
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
Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.
Tada H et al.
Bmj Open, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
A case of repetitive acute coronary syndrome in a patient with familial hypercholesterolemia.
Motozato K et al.
Journal of Cardiology Cases, 2019
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.
Nomura A et al.
Bmj Open, 2018
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
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
Harada-Shiba M et al.
Journal of Atherosclerosis and Thrombosis, 2018
PCSK9 inhibition in the management of familial hypercholesterolemia.
Ogura M
Journal of Cardiology, 2018
Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.
Shirahama R et al.
Internal Medicine (tokyo, Japan), 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 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
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
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
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
[A genetic and clinical study in a family with familial hypercholesterolemia].
Lai H et al.
Zhonghua Nei Ke Za Zhi, 2011
Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.
Miyake Y et al.
Atherosclerosis, 2008
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
Graham CA et al.
Atherosclerosis, 2005
[Perspectives in familial hypercholesterolemia: with particular reference to associated ischemic heart disease].
Miida T et al.
Journal of Cardiology, 1988
Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
Ohta N et al.
Journal of Clinical Lipidology, 0
Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease.
Tada H et al.
Journal of Clinical Lipidology, 0
Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia.
Nomura A et al.
Journal of Clinical Lipidology, 0