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Gene · 7439

Papers1,518

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
Astrocytes Coordinate Neurovascular Coupling During Prolonged Sensory Demand via AQP4/TRPA1/BEST1/D-Serine Signaling.Adv Sci (Weinh)202642811508PubTator, text miningPubMed
Expanding the genotype-phenotype spectrum of autosomal recessive bestrophinopathy: a clinicogenetic report of Filipino siblings with compound heterozygous BEST1 variants.Eye (Lond)202642811081PubTator, text miningPubMed
Case Report: Acute angle-closure glaucoma as the initial presentation of autosomal recessive bestrophinopathy caused by compound heterozygous BEST1 mutations.Front Med (Lausanne)202642774095PubTator, text miningPubMed
Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.Biomolecules202642650885PubTator, text miningPubMed
Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.Genes (Basel)202642650171PubTator, text miningPubMed
Dual-restricted AAV gene delivery via suprachoroidal administration mediates precision RPE SOCS3 restoration for dry age-related macular degeneration.J Control Release202642636893PubTator, text miningPubMed
CircMETTL3 Inhibits H2O2-Induced Senescence, Oxidative Stress, and DNA Damage in ARPE-19 Cells via miR-100/BMPR2 Axis.J Ophthalmol202642626541PubTator, text miningPubMed
AAV-NRF2 protects retinal and choroidal vasculature in a GDF15-dependent manner in an oxidative damage model of AMD.Proc Natl Acad Sci U S A202642579492PubTator, text miningPubMed
Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.Ophthalmol Retina202642559932PubTator, text miningPubMed
Ocular Safety and Efficacy of AAV-mediated Tyrosinase Gene Augmentation in a Nonhuman Primate Model.bioRxiv202642523373PubTator, text miningPubMed
Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease.J Clin Med202642513409PubTator, text miningPubMed
Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.Doc Ophthalmol202642498820PubTator, text miningPubMed
Satellite Glial Cells Synthesize and Release GABA to Activate Extrasynaptic GABAA Receptors That Modulate Dorsal Root Ganglia Neuron Excitability.Glia202642477993PubTator, text miningPubMed
A TREK-1/AQP4/TRPA1/BDNF Signaling Axis Is Associated With Astrocytic Volume Transients, Synaptic Plasticity, and Spatial Memory.Glia202642458823PubTator, text miningPubMed
Personalized Pathogenicity Assessment of RPE65 Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model.Int J Mol Sci202642449920PubTator, text miningPubMed
Evaluation of the Toxicity and Efficacy of an Adeno-Associated Viral Vector Expressing BEST1 Delivered by Subretinal Injection in a Canine Model of Human Bestrophinopathy.Hum Gene Ther202642411064PubTator, text miningPubMed
Clinical manifestations of dual-gene variants in retinitis pigmentosa.Acta Ophthalmol202642360046PubTator, text miningPubMed
Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.Ophthalmol Sci202642358619PubTator, text miningPubMed
A Cohort-Based Genetic Analysis of Keratoconus in Turkey Reveals a Substantial Proportion of Novel Variants and Suggests Possible Oligogenic Contributions to Keratoconus.Genes (Basel)202642353764PubTator, text miningPubMed
Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.J Med Genet202642321002PubTator, 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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