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Gene · 64241

Papers1,622

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia.Hematol Transfus Cell Ther202642176491PubTator, text miningPubMed
Population enrichment of ABCG5/ABCG8 variants in Qatar and genetic estimates of sitosterolemia burden.J Clin Lipidol202642161750PubTator, text miningPubMed
Phytosterolemia-associated histiocytosis as a diagnostic challenge.J Clin Lipidol202642120250PubTator, text miningPubMed
Bempedoic acid within the phase ternary diagram governing biliary cholesterol solubilization and gallstone risk.J Lipid Res202642119848PubTator, text miningPubMed
ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study.Sci Rep202642115657PubTator, text miningPubMed
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges.Hum Mutat202642111500PubTator, text miningPubMed
Sitosterolemia: Unveiling an Underdiagnosed Case Series of Haemolytic Anaemia.Indian J Hematol Blood Transfus202642040710PubTator, text miningPubMed
Haematological presentation of sitosterolaemia.BMJ Case Rep202641881488PubTator, text miningPubMed
Role of liver X receptors in the pathogenesis and treatment of chronic liver disease (Review).Mol Med Rep202641860051PubTator, text miningPubMed
Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.Metab Brain Dis202641848945PubTator, text miningPubMed
Clinical Trial on the Usefulness of an Intensive Low-Density Lipoprotein Cholesterol Treatment and Familial Hypercholesterolemia Screening Clinical Pathway for Acute Coronary Syndrome: The Hokuriku-plus Acute Coronary Syndrome Registry Study - Rationale and Study Design.
Circ Rep202641808958PubTator, text miningPubMed
Extracellular vesicles related to familial hypercholesterolemia.Arch Endocrinol Metab202641805290PubTator, text miningPubMed
Case report: The first report of a family with sitosterolemia in the Polish population.J Clin Lipidol202641794573PubTator, text miningPubMed
Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.Sci Rep202641764281PubTator, text miningPubMed
Variable phenotype associated with compound LDLR gene mutations in familial hypercholesterolemia patients: Case series and clinical implications.Medicine (Baltimore)202641760042PubTator, text miningPubMed
Atherogenic Dyslipidemia in Children and Adolescents: Current Evidence, Clinical Challenges, and Future Perspectives.J Cardiovasc Dev Dis202641745337PubTator, text miningPubMed
Suppression of hepatic PPARα by hypoxia disrupts cholesterol metabolism and indirectly impairs arterial endothelial function in MASLD.Biochem Pharmacol202641713620PubTator, text miningPubMed
Positive Predictive Values of Familial Hypercholesterolemia Diagnoses in the Danish National Patient Registry and the Danish Familial Hypercholesterolemia Registry - A Validation Study.Clin Epidemiol202641710257PubTator, text miningPubMed
Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.J Chromatogr B Analyt Technol Biomed Life Sci202641691973PubTator, text miningPubMed
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.J Atheroscler Thromb202641672494PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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