Associated Papers
Targeted metabolomics reveals serum biomarkers and metabolic alterations in cholesterol gallstone patients.
Jin W et al.
Scientific Reports, 2026
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.
Carreras-Torres R et al.
Genome Medicine, 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
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
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
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 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
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Wei CS et al.
World Journal of Gastroenterology, 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
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 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
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.
Aamann L et al.
Scandinavian Journal of Gastroenterology, 2018
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
Deng M et al.
Experimental and Therapeutic Medicine, 2016
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Ali S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.
Wong TN et al.
Nature, 2015
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.
Thareja G et al.
Bmc Genomics, 2015
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.
Patel SB
Current Opinion in Lipidology, 2014
The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.
Stender S et al.
Journal of the American College of Cardiology, 2014
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Holmen OL et al.
Nature Genetics, 2014
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).
Goodloe R et al.
Bmc Medical Genetics, 2013
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
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
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
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
Pandit B et al.
Bmc Medical Genetics, 2006
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
Rees DC et al.
British Journal of Haematology, 2005
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus.
Shulenin S et al.
Cytogenetics and Cell Genetics, 2001
ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.
Lamiquiz-Moneo I et al.
Journal of Clinical Lipidology, 0