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
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Utility of Discrepancies Between Friedewald and Martin Equations in Predicting Pathogenic Variants of Familial Hypercholesterolemia in Children.
Tani R et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2024
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
2022 Consensus statement on the management of familial hypercholesterolemia in Korea.
Lee CJ et al.
The Korean Journal of Internal Medicine, 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
Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
Nagahara K et al.
Journal of Atherosclerosis and Thrombosis, 2022
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 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
GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.
Kim H et al.
Scientific Reports, 2020
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
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC 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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 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
Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea.
Lee SH
Journal of Atherosclerosis and Thrombosis, 2016
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
Tada H et al.
Practical Laboratory Medicine, 2015
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Han SM et al.
Plos One, 2015
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
Miyake Y et al.
Atherosclerosis, 2009
[The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].
Voevoda MI et al.
Genetika, 2008
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
Liyanage KE et al.
Critical Reviews in Clinical Laboratory Sciences, 0
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