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
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
36981027 (PubMed )
Supplement: genes-14-00754-s001.zip › genes-2263057-supplementary.pdf
Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.
Iyama K et al.
Internal Medicine (tokyo, Japan), 2022
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 2019
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 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
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
Niu DM et al.
Journal of Inherited Metabolic Disease, 2010
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
Heimerl S et al.
Human Mutation, 2002
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek JA et al.
Human Mutation, 2001
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Keller S et al.
European Journal of Medical Genetics, 0
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