Gene · 64240
Papers1,713
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
41 to 60 of 1,713
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Lipid Keratopathy in Sitosterolemia: A Case Report and Review of The Ophthalmic Manifestations. | Cornea | 2026 | 41649375 | PubTator, text mining | PubMed |
| Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. | J Med Case Rep | 2026 | 41606675 | PubTator, text mining | PubMed |
| Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas. | Pediatrics | 2026 | 41539482 | PubTator, text mining | PubMed |
| Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants. | Biochem Genet | 2026 | 40773003 | PubTator, text mining | PubMed |
| Iron overload in hereditary spherocytosis: Are genetic factors the cause? | Br J Haematol | 2026 | 39632350 | PubTator, text mining | PubMed |
| The disturbance of ABC transporters in patients with dengue fever: integration of metabolomics and transcriptomics. | Front Cell Infect Microbiol | 2025 | 41756409 | PubTator, text mining | PubMed |
| The Genetic Landscape of Familial Hypercholesterolemia in Telangana, Southern India: Novel Mutations and Clinical Implications. | Cureus | 2025 | 41531604 | PubTator, text mining | PubMed |
| The cellular senescence-metabolism axis: emerging insights into T cell dynamics in the context of biological aging. | Cell Commun Signal | 2025 | 41366437 | PubTator, text mining | PubMed |
| From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant. | Clin Cosmet Investig Dermatol | 2025 | 41340881 | PubTator, text mining | PubMed |
| Genetic association of lipid-lowering drug target genes with cholecystitis: A summary-data-based Mendelian randomization analysis. | Medicine (Baltimore) | 2025 | 41327716 | PubTator, text mining | PubMed |
| Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia. | Front Genet | 2025 | 41170196 | PubTator, text mining | PubMed |
| Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis. | J Clin Lipidol | 2025 | 41130816 | PubTator, text mining | PubMed |
| Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols. | Curr Atheroscler Rep | 2025 | 41118071 | PubTator, text mining | PubMed |
| Chronic thrombocytopenia as a marker for early detection of sitosterolemia. | J Clin Lipidol | 2025 | 41102112 | PubTator, text mining | PubMed |
| NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications. | Int J Mol Sci | 2025 | 41096862 | PubTator, text mining | PubMed |
| Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia. | Am J Dermatopathol | 2025 | 41032422 | PubTator, text mining | PubMed |
| From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis. | Thromb J | 2025 | 41023734 | PubTator, text mining | PubMed |
| Nitroxoline mitigates hepatic steatosis by enhancing cholesterol efflux and promoting bile acid synthesis through LRH-1 signaling. | Lipids Health Dis | 2025 | 41023714 | PubTator, text mining | PubMed |
Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report. | Biomed Rep | 2025 | 41020257 | PubTator, text mining | PubMed |
| Sinapic Acid Regulates the LXRα-ABCG5/8 Axis in the Hepatocytes: A Potential Strategy for Cholesterol Gallstone Management. | Pharmaceuticals (Basel) | 2025 | 41011256 | PubTator, text mining | PubMed |
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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