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
Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.
Do TTM et al.
Journal of Clinical Medicine, 2025
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
Gene variants and clinical characteristics of children with sitosterolemia.
Gu R et al.
Lipids in Health and Disease, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
Zhang Q et al.
Bmc Pediatrics, 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
Features of chinese patients with sitosterolemia.
Zhou Z et al.
Lipids in Health and Disease, 2022
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
Williams K et al.
International Journal of Molecular Sciences, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.
Helgadottir A et al.
European Heart Journal, 2020
Nonsynonymous Mutations in Linker-2 of the Pdr5 Multidrug Transporter Identify a New RNA Stability Element.
Rahman H et al.
G3 (bethesda, Md.), 2020
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 2019
[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities].
Cao LJ et al.
Zhonghua Yi Xue Za Zhi, 2019
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
Fang D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.
Hansel B et al.
Atherosclerosis, 2014
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
Wang Z et al.
American Journal of Hematology, 2014
Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
Hu M et al.
Journal of Atherosclerosis and Thrombosis, 2014
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
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y et al.
Journal of Clinical Lipidology, 0
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Alves AC et al.
Journal of Clinical Lipidology, 0