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
Variants of Unknown Significance in Hyperlipidemia: A Diagnostic Quandary.
Roulston G et al.
The Journal of Applied Laboratory Medicine, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
Williams K et al.
International Journal of Molecular Sciences, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 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
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 2019
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Crystal structure of the human sterol transporter ABCG5/ABCG8.
Lee JY et al.
Nature, 2016
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K et al.
American Journal of Human Genetics, 2001
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0