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Gene · 80184

Papers1,793

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
Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.Ophthalmic Surg Lasers Imaging Retina202540407606PubTator, text miningPubMed
CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies.J Cell Commun Signal202540270641PubTator, text miningPubMed
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.HGG Adv202540170356PubTator, text miningPubMed
Advancing CRISPR genome editing into gene therapy clinical trials: progress and future prospects.Expert Rev Mol Med202540160040PubTator, text miningPubMed
Cryo-EM of AKAP350/AKAP9 Reveals Fibrillar Clusters and an Association With DNA.J Mol Biol202540154916PubTator, text miningPubMed
Landscape of small nucleic acid therapeutics: moving from the bench to the clinic as next-generation medicines.Signal Transduct Target Ther202540059188PubTator, text miningPubMed
Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.Mol Ther Nucleic Acids202539991472PubTator, text miningPubMed
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.Acta Neuropathol Commun202539934925PubTator, text miningPubMed
From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases.Pharmacol Res202539889868PubTator, text miningPubMed
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.Clin Genet202539761966PubTator, text miningPubMed
Exonic splice variant discovery using in vitro models of inherited retinal disease.HGG Adv202539354715PubTator, text miningPubMed
Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.Genes (Basel)202439766851PubTator, text miningPubMed
Induced Pluripotent Stem Cells in Birds: Opportunities and Challenges for Science and Agriculture.Vet Sci202439729006PubTator, text miningPubMed
SNRPB and CEP290, predicting the prognosis of diffuse large B cell lymphoma and associated with tumour immune microenvironment.Ann Med202439624962PubTator, text miningPubMed
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.Int J Mol Sci202439596324PubTator, text miningPubMed
[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis].Vestn Oftalmol202439569776PubTator, text miningPubMed
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system.Hum Mol Genet202439393808PubTator, text miningPubMed
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.J Fr Ophtalmol202439213781PubTator, text miningPubMed
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.Invest Ophthalmol Vis Sci202439189993PubTator, text miningPubMed
Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report.Korean J Ophthalmol202439155132PubTator, 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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