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
Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Wu LL et al.
Journal of Medical Case Reports, 2026
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
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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant.
Hasebe M et al.
Journal of Diabetes Investigation, 2022
Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.
Zhang J et al.
Lipids in Health and Disease, 2022
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
Diagnosis and Management of Sitosterolemia 2021.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2021
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
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 features of 20 patients with phytosterolemia causing hematologic abnormalities].
Cao LJ et al.
Zhonghua Yi Xue Za Zhi, 2019
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 2019
Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 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
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
Ono S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
Yamamoto T et al.
The Journal of Dermatology, 2016
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2016
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
Wang Z et al.
American Journal of Hematology, 2014
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
Wang G et al.
Acta Haematologica, 2011
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
Maruyama T et al.
Journal of Atherosclerosis and Thrombosis, 2004
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
Heimerl S et al.
Human Mutation, 2002
Novel donor splice site mutation of ABCG5 gene in sitosterolemia.
Lam CW et al.
Molecular Genetics and Metabolism, 2002
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
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
Lee MH et al.
Nature Genetics, 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