Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
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
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
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
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 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
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 2019
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 2019
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
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 2019
Importance of genetic background of oxysterol signaling in cancer.
Holy P et al.
Biochimie, 2018
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Liu R et al.
Scientific Reports, 2017
ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility.
Milanizadeh S et al.
Gastroenterology and Hepatology From Bed to Bench, 2017
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
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Impact of Genetic Polymorphism on LDL-C Response to Plant Stanol Ester Intake.
Chupeerach C et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2016
Common Variants in Cholesterol Synthesis- and Transport-Related Genes Associate with Circulating Cholesterol Responses to Intakes of Conventional Dairy Products in Healthy Individuals.
Abdullah MM et al.
The Journal of Nutrition, 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
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.
Stender S et al.
Journal of the American College of Cardiology, 2014
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
Wang Z et al.
American Journal of Hematology, 2014
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.
von Kampen O et al.
Hepatology (baltimore, Md.), 2013
Genetics of biliary lithiasis from an ethnic perspective.
Krawczyk M et al.
Clinics and Research in Hepatology and Gastroenterology, 2013
Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.
Wang G et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2012
Phytosterol and cholesterol precursor levels indicate increased cholesterol excretion and biosynthesis in gallstone disease.
Krawczyk M et al.
Hepatology (baltimore, Md.), 2012
Pathogenesis of cholesterol and pigment gallstones: an update.
Van Erpecum KJ
Clinics and Research in Hepatology and Gastroenterology, 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
Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype.
Katsika D et al.
Journal of Internal Medicine, 2010
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.
Garcia-Rios A 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
Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
Chen SN et al.
Bmc Medical Genetics, 2009
A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.
Renner O et al.
Plos One, 2009
Long-term consumption of plant stanol and sterol esters, vascular function and genetic regulation.
Gylling H et al.
The British Journal of Nutrition, 2009
The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
Junyent M et al.
Journal of Lipid Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men.
Zhao HL et al.
Lipids, 2008
Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease.
Kuo KK et al.
The British Journal of Surgery, 2008
Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease.
Rudkowska I et al.
Nutrition Reviews, 2008
Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance.
Chen ZC et al.
Journal of Human Genetics, 2008
Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss.
Santosa S et al.
Journal of Lipid Research, 2007
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
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
Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children.
Viturro E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006