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.
41 to 60 of 1,793
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Advances in high-resolution imaging of centrioles and cilia. | J Cell Sci | 2025 | 41147396 | PubTator, text mining | PubMed |
| CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids. | J Cell Sci | 2025 | 41064933 | PubTator, text mining | PubMed |
| Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis. | Ren Fail | 2025 | 41032671 | PubTator, text mining | PubMed |
| Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases. | Orphanet J Rare Dis | 2025 | 40993696 | PubTator, text mining | PubMed |
| RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals. | Invest Ophthalmol Vis Sci | 2025 | 40985799 | PubTator, text mining | PubMed |
| Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction. | bioRxiv | 2025 | 40949955 | PubTator, text mining | PubMed |
| A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report. | J Med Case Rep | 2025 | 40898267 | PubTator, text mining | PubMed |
| Characterization of membrane structures regulating primary ciliogenesis by quantitative isotropic ultrastructure imaging. | bioRxiv | 2025 | 40894589 | PubTator, text mining | PubMed |
| The Kinesin Motor Kif9 Disrupts Primary Cilia Length by Mispositioning Centriolar Satellites. | FASEB J | 2025 | 40879105 | PubTator, text mining | PubMed |
| Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium. | Transl Vis Sci Technol | 2025 | 40862658 | PubTator, text mining | PubMed |
| Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay. | NPJ Genom Med | 2025 | 40858643 | PubTator, text mining | PubMed |
| A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort. | Ophthalmic Genet | 2025 | 40858513 | PubTator, text mining | PubMed |
| Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges. | Clin Case Rep | 2025 | 40746772 | PubTator, text mining | PubMed |
| Leber Congenital Amaurosis. | Adv Exp Med Biol | 2025 | 40736828 | PubTator, text mining | PubMed |
| Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches-A Literature Review. | Medicina (Kaunas) | 2025 | 40731809 | PubTator, text mining | PubMed |
| CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines. | Stem Cell Res | 2025 | 40701116 | PubTator, text mining | PubMed |
| Focal adhesion-related non-ciliary functions of CEP290. | PLoS One | 2025 | 40632733 | PubTator, text mining | PubMed |
| [Identification of a novel deep intronic variant associated with Joubert syndrome through combined whole-genome sequencing and RNA sequencing]. | Zhonghua Yi Xue Yi Chuan Xue Za Zhi | 2025 | 40623933 | PubTator, text mining | PubMed |
| Induced Pluripotent (iPSC) and Mesenchymal (MSC) Stem Cells for In Vitro Disease Modeling and Regenerative Medicine. | Int J Mol Sci | 2025 | 40565081 | PubTator, text mining | PubMed |
| Ciliary biology intersects autism and congenital heart disease. | Development | 2025 | 40552535 | 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.
For software
Read this list from software.
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GET https://conductscience.org/api/genes/v1/80184/papers?page=3