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
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
Opportunistic Detection of Phytosterolemia During Genetic Testing for FH: Case Series and Contextual Review.
Loh WJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.
Huang S et al.
Translational Pediatrics, 2025
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
From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant.
Deng Y et al.
Clinical, Cosmetic and Investigational Dermatology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
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
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B et al.
Annals of Human Genetics, 2024
Gene variants and clinical characteristics of children with sitosterolemia.
Gu R et al.
Lipids in Health and Disease, 2024
Familial hypercholesterolemia with special focus on Japan.
Kobayashi J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Stomatocytes and macrothrombocytes: Clues to a rare genetic diagnosis.
Zhang J et al.
Pediatric Blood & Cancer, 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
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Tada H et al.
Internal Medicine (tokyo, Japan), 2023
An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.
Yoshida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2023
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
Tada MT et al.
Circulation. Genomic and Precision Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
A Resuscitated Case of Acute Myocardial Infarction with both Familial Hypercholesterolemia Phenotype Caused by Possibly Oligogenic Variants of the PCSK9 and ABCG5 Genes and Type I CD36 Deficiency.
Nishikawa R et al.
Journal of Atherosclerosis and Thrombosis, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia.
Yamada Y et al.
Cjc Open, 2021
Recent advances in ABCG5 and ABCG8 variants.
Fong V et al.
Current Opinion in Lipidology, 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
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.
Tada H et al.
Lipids in Health and Disease, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Zein AA et al.
Biochemical Society Transactions, 2019
Genomics of familial hypercholesterolaemia.
Alves AC et al.
Current Opinion in Lipidology, 2019
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 2019
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 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
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
Yagasaki H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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