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
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
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
Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2024
CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.
Xu S et al.
Plos One, 2024
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 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
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 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 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
Liver Transplantation for Homozygous Familial Hypercholesterolemia.
Ishigaki Y et al.
Journal of Atherosclerosis and Thrombosis, 2019
Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.
ArulJothi KN et al.
Clinical Biochemistry, 2016
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
Tada H et al.
Practical Laboratory Medicine, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
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
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
Maruyama T et al.
Journal of Atherosclerosis and Thrombosis, 2004
Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.
Yu W et al.
Atherosclerosis, 2002
Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene.
Hirota R et al.
Annals of Clinical Biochemistry, 2002
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
Maruyama T et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1995
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
Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M et al.
Journal of Clinical Lipidology, 0
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Reddy LL et al.
Indian Heart Journal, 0