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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
Miroshnikova VV et al.
Journal of Personalized Medicine, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.
Zhang J et al.
Lipids in Health and Disease, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Williams KB et al.
Bmc Cardiovascular Disorders, 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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
Williams K et al.
International Journal of Molecular Sciences, 2021
Mammalian ABCG-transporters, sterols and lipids: To bind perchance to transport?
Kerr ID et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia.
Peterson AL et al.
Jacc. Case Reports, 2020
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
The Lipid-lowering Effects and Associated Mechanisms of Dietary Phytosterol Supplementation.
Dumolt JH et al.
Current Pharmaceutical Design, 2017
Crystal structure of the human sterol transporter ABCG5/ABCG8.
Lee JY et al.
Nature, 2016
Novel genes in LDL metabolism--a comprehensive overview.
Christoffersen M et al.
Current Opinion in Lipidology, 2015
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.
Patel SB
Current Opinion in Lipidology, 2014
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.
Hansel B et al.
Atherosclerosis, 2014
The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish.
Horenstein RB et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
ATP binding cassette transporter G1 (ABCG1) is an intracellular sterol transporter.
Tarling EJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
A functional steroid-binding element in an ATP-binding cassette multidrug transporter.
Velamakanni S et al.
Molecular Pharmacology, 2008
Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization.
Polgar O et al.
Biochemistry, 2006
Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
Solcà C et al.
Clinical Genetics, 2005
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf GA et al.
The Journal of Biological Chemistry, 2004
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
Heimerl S et al.
Human Mutation, 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
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus.
Shulenin S et al.
Cytogenetics and Cell Genetics, 2001
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Alves AC et al.
Journal of Clinical Lipidology, 0