Associated Papers
Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.
Nahom D et al.
Familial Cancer, 2025
Trans-ancestry genome-wide association meta-analysis of gallstone disease.
Lim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.
Weber SN et al.
Internal and Emergency Medicine, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
The ABCG8 polymorphism increases the risk of gallbladder cancer in the general population and gallstones in obese patients from Poland.
Krupa L et al.
European Journal of Clinical Investigation, 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
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B et al.
Annals of Human Genetics, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review.
Costa CJ et al.
Journal of Clinical and Translational Hepatology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Competing Genetic Traits and Their Influence on LDL Cholesterol Concentration in Familial Hypercholesterolemia.
Song C et al.
Jacc. Case Reports, 2024
Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.
Kojima N et al.
Journal of Lipid and Atherosclerosis, 2024
Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.
Bydlowski SP et al.
Advances in Experimental Medicine and Biology, 2024
Correlation of serum biochemical characteristics and ABCG8 genetic variant (rs 11887534) with gall stone compositions and risk of gallstone disease in Egyptian patients.
Aly DM et al.
Asian Journal of Surgery, 2023
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
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.
Krawczyk M et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M et al.
Human Mutation, 2022
Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.
Krawczyk M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
Bomba L et al.
American Journal of Human Genetics, 2022
Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
Nagahara K et al.
Journal of Atherosclerosis and Thrombosis, 2022
Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.
Fairfield CJ et al.
Hepatology (baltimore, Md.), 2022
Genetic factors associated with alterations in liver function test results in adult hospitalized patients treated with parenteral nutrition: A substudy of a clinical trial.
Llop-Talaveron J et al.
Nutrition (burbank, Los Angeles County, Calif.), 2022
Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women.
Liang KW et al.
Bmc Gastroenterology, 2021
An association of ABCG8: rs11887534 polymorphism and HDL-cholesterol response to statin treatment in the Polish population.
Sałacka A et al.
Pharmacological Reports : Pr, 2021
The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.
Abed E et al.
Drug Metabolism and Personalized Therapy, 2021
Cryo-EM structure of ABCG5/G8 in complex with modulating antibodies.
Zhang H et al.
Communications Biology, 2021
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
Mandato C et al.
Orphanet Journal of Rare Diseases, 2021
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.
Primorac D et al.
Frontiers in Medicine, 2021
Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter.
Xavier BM et al.
International Journal of Molecular Sciences, 2020
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.
Helgadottir A et al.
European Heart Journal, 2020
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
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.
Tada H et al.
Lipids in Health and Disease, 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
Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.
Kałużna M et al.
Orphanet Journal of Rare Diseases, 2019
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
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Huynh MT et al.
Revista Espanola De Enfermedades Digestivas, 2019
Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype.
Tada H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2019
Identification and Replication of Six Loci Associated With Gallstone Disease.
Gellert-Kristensen H et al.
Hepatology (baltimore, Md.), 2019
Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.
Mohd Nor NS et al.
Bmc Pediatrics, 2019