Associated Papers
Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential Implications for Familial Hypercholesterolemia Genetics.
Cadena-Ullauri S et al.
Journal of Cardiovascular Development and Disease, 2026
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
A genetic map of human metabolism across the allele frequency spectrum.
Zoodsma M et al.
Nature Genetics, 2025
Lipid Profile and Apolipoprotein B Serum Levels in the Vietnamese Population With Newly Diagnosed Elevated Low-Density Lipoprotein Cholesterol and Association With the Single-Nucleotide Variant rs676210: Cross-Sectional Study.
Nguyen QT et al.
Jmir Cardio, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.
Chamoieva AE et al.
International Journal of Molecular Sciences, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.
Dagli-Hernandez C et al.
Pharmacogenetics and Genomics, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lv X et al.
Lipids in Health and Disease, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
Hori M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Pleiotropic Effects of APOB Variants on Lipid Profiles, Metabolic Syndrome, and the Risk of Diabetes Mellitus.
Jang SJ et al.
International Journal of Molecular Sciences, 2022
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Computational and Experimental Analysis of Genetic Variants.
Prokop JW et al.
Comprehensive Physiology, 2022
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
Pott J et al.
Human Molecular Genetics, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
Ikeda M et al.
Neurogenetics, 2022
Analysis of the APOB Gene and Apolipoprotein B Serum Levels in a Mexican Population with Acute Coronary Syndrome: Association with the Single Nucleotide Variants rs1469513, rs673548, rs676210, and rs1042034.
Aceves-Ramírez M et al.
Genetics Research, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
ApoB gene polymorphism (rs676210) and its pharmacogenetics impact on atorvastatin response among Iraqi population with coronary artery disease.
Abdulfattah SY et al.
Journal, Genetic Engineering & Biotechnology, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Polymorphisms in Genes of Lipid Metabolism Are Associated with Type 2 Diabetes Mellitus and Periodontitis, as Comorbidities, and with the Subjects' Periodontal, Glycemic, and Lipid Profiles.
Nicchio IG et al.
Journal of Diabetes Research, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda MC et al.
Molecular Genetics & Genomic Medicine, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.
Khlebus E et al.
Plos One, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Zaragoza MV et al.
Cells, 2017
The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis.
Au A et al.
Atherosclerosis, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 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
Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
Al-Allaf FA et al.
Gene, 2015
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
Cefalù AB et al.
Atherosclerosis, 2015