Associated Papers
Uncovering dark mass in population proteomics: Pan-analysis of single amino acid polymorphism relevant to cognition and aging.
Gao X et al.
Cell Genomics, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.
Park YJ et al.
Lipids in Health and Disease, 2024
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.
Suzuki T et al.
Endocrine Journal, 2024
Where do obesity and male infertility collide?
Jahangir M et al.
Bmc Medical Genomics, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Rodríguez-Jiménez C et al.
International Journal of Molecular Sciences, 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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.
Jingxin S et al.
Molecular Genetics & Genomic Medicine, 2022
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
The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.
Yang L et al.
Frontiers in Genetics, 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
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.
Matsunaga A et al.
Journal of Atherosclerosis and Thrombosis, 2020
APOB gene polymorphisms may affect the risk of minor or minimal bleeding complications in patients on warfarin maintaining therapeutic INR.
Yee J et al.
European Journal of Human Genetics : Ejhg, 2019
APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.
Roper N et al.
Cell Reports, 2019
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
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 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
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.
Yamada Y et al.
Oncotarget, 2017
[Interaction between APOB gene polymorphism and risk factors in coronary heart disease patients without lipid-lowering treatment].
Pu T et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 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
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Lu X et al.
Human Molecular Genetics, 2016
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
Yilmaz BS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.
Tang CS et al.
Nature Communications, 2015
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine.
Strøm TB et al.
Journal of Clinical Lipidology, 0