Associated Papers
Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.
Kojima N et al.
Internal Medicine (tokyo, Japan), 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
Familial hypercholesterolemia with special focus on Japan.
Kobayashi J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia.
Tada H et al.
Genes, 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
Individualized Treatment for Patients With Familial Hypercholesterolemia.
Tada H et al.
Journal of Lipid and Atherosclerosis, 2022
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
Effect of Cumulative Exposure to Low-Density Lipoprotein-Cholesterol on Cardiovascular Events in Patients With Familial Hypercholesterolemia.
Tada H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
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
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
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC 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
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
Impact of evolocumab treatment on low-density lipoprotein cholesterol levels in heterozygous familial hypercholesterolemic patients withdrawing from regular apheresis.
Kawashiri MA et al.
Atherosclerosis, 2017
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.
Tada H et al.
European Heart Journal, 2017
Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.
Butkinaree C et al.
The Journal of Biological Chemistry, 2015
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
Tada H et al.
Practical Laboratory Medicine, 2015
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).
Canuel M et al.
Plos One, 2013
Post-prandial remnant lipoprotein metabolism in autosomal recessive hypercholesterolaemia.
Tada H et al.
European Journal of Clinical Investigation, 2012
A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
Tada H et al.
Atherosclerosis, 2011
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.
Strøm TB et al.
Biochemical and Biophysical Research Communications, 2011
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain.
Strøm TB et al.
Molecular Genetics and Metabolism, 2010
The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
Noguchi T et al.
Atherosclerosis, 2010
Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
Jelassi A et al.
Atherosclerosis, 2009
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
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
Liyanage KE et al.
Critical Reviews in Clinical Laboratory Sciences, 0
Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease.
Tada H et al.
Journal of Clinical Lipidology, 0