ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

Features of Sitosterolemia in Children

(2020) Liyuan Xu et al.   AMERICAN JOURNAL OF CARDIOLOGY

Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations

(2020) Nobuko Kojima et al.   CLINICA CHIMICA ACTA

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

(2019) José María Bastida et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion

(2019) Aiman A. Zein et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management

(2018) Jose Maria Bastida et al.   CURRENT MEDICINAL CHEMISTRY

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

(2018) Hayato Tada et al.   Journal of Atherosclerosis and Thrombosis

ABCG5 and ABCG8: more than a defense against xenosterols

(2018) Shailendra B. Patel et al.   JOURNAL OF LIPID RESEARCH

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease

(2018) Asier Benito-Vicente et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

(2017) A. Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia

(2017) J. M. Bastida et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Crystal structure of the human sterol transporter ABCG5/ABCG8

(2016) Jyh-Yeuan Lee et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Ezetimibe Reduces Plant Sterol Accumulation and Favorably Increases Platelet Count in Sitosterolemia

(2015) Rgia A. Othman et al.   JOURNAL OF PEDIATRICS

Sitosterolemia: Diagnosis, Investigation, and Management

(2014) Joan Carles Escolà-Gil et al.   Current Atherosclerosis Reports

Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology

(2014) Shailendra B. Patel   CURRENT OPINION IN LIPIDOLOGY

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia

(2013) Zhaoyue Wang et al.   AMERICAN JOURNAL OF HEMATOLOGY

Phytosterol Feeding Causes Toxicity in ABCG5/G8 Knockout Mice

(2013) Allison L. McDaniel et al.   AMERICAN JOURNAL OF PATHOLOGY

Non-cholesterol sterols and cholesterol metabolism in sitosterolemia

(2013) Rgia A. Othman et al.   ATHEROSCLEROSIS

Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia

(2013) T. Kanaji et al.   BLOOD

A Phytosterolemia Patient Presenting Exclusively with Macrothrombocytopenia and Stomatocytic Hemolysis

(2011) Gaifeng Wang et al.   ACTA HAEMATOLOGICA

Phytosterols differentially influence ABC transporter expression, cholesterol efflux and inflammatory cytokine secretion in macrophage foam cells

(2010) Nadezhda S. Sabeva et al.   JOURNAL OF NUTRITIONAL BIOCHEMISTRY

The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia

(2009) T. H. Chase et al.   BLOOD

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis

(2008) S Kidambi et al.   JOURNAL OF CLINICAL PATHOLOGY