Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.
Teng MS et al.
Genes, 2023
A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.
Chu X et al.
Iranian Journal of Public Health, 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
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH et al.
Nature Communications, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.
Chauhan T et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2020
A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.
Calderon-Ospina CA et al.
Pharmacogenomics and Personalized Medicine, 2020
Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.
Wang HH et al.
Advances in Experimental Medicine and Biology, 2020
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
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.
Jin Y et al.
Human Genomics, 2018
Distribution of the ATP-binding cassette transporter ABCG8 IVS1-2A>G genotype and clinical characteristics of gallbladder patients in Northeastern Mexico: A pilot study.
Frigerio P et al.
Biomedical Reports, 2018
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.
Zimmermann A et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2016
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
Rodriguez S et al.
European Journal of Human Genetics : Ejhg, 2016
ABCG5 and ABCG8 gene polymorphisms in type 2 diabetes mellitus in the Turkish population.
Gok O et al.
Canadian Journal of Diabetes, 2015
Genetic variation in the cholesterol transporter NPC1L1, ischaemic vascular disease, and gallstone disease.
Lauridsen BK et al.
European Heart Journal, 2015
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
Kaya Z et al.
Pediatric Blood & Cancer, 2014
The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.
Stender S et al.
Journal of the American College of Cardiology, 2014
Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis.
Jiang ZY et al.
Plos One, 2014
Genetics of biliary lithiasis from an ethnic perspective.
Krawczyk M et al.
Clinics and Research in Hepatology and Gastroenterology, 2013
Interactions between CYP7A1 A-204C and ABCG8 C1199A polymorphisms on lipid lowering with atorvastatin.
Wei KK et al.
Journal of Clinical Pharmacy and Therapeutics, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.
Silverton L et al.
Drug Metabolism and Drug Interactions, 2011
ABCG8 D19H polymorphism: a basis for the genetic prediction of cholesterol gallstone disease.
Yoon JH et al.
Journal of Gastroenterology and Hepatology, 2010
ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis.
Jakulj L et al.
Journal of Lipid Research, 2010
Frequencies of four ATP-binding cassette transporter G8 polymorphisms in patients with ischemic vascular diseases.
Szilvási A et al.
Genetic Testing and Molecular Biomarkers, 2010
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
Teupser D et al.
Circulation. Cardiovascular Genetics, 2010
Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.
Abellán R et al.
Atherosclerosis, 2010
The potential influence of genetic variants in genes along bile acid and bile metabolic pathway on blood cholesterol levels in the population.
Lu Y et al.
Atherosclerosis, 2010
Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology.
Jeannesson E et al.
Cell Biology and Toxicology, 2009
Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
Chen SN et al.
Bmc Medical Genetics, 2009
ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol.
Grünhage F et al.
Hepatology (baltimore, Md.), 2007
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S et al.
Nature Genetics, 2007
Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones.
Acalovschi M et al.
European Journal of Internal Medicine, 2006