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Gene · 1287

Papers2,056

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
SPIN-guided engineering of a novel (R)-amine transaminase from Fusarium albosuccineum for enantioselective synthesis of chiral piperidyl amines.Synth Syst Biotechnol202641551743PubTator, text miningPubMed
Comparative proteomic analysis of the ECM composition of the human omentum and mesentery, the main sites of ovarian cancer metastasis.iScience202641550748PubTator, text miningPubMed
Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability to Cause Aortopathy.JACC Basic Transl Sci202641544301PubTator, text miningPubMed
Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.CEN Case Rep202641483114PubTator, text miningPubMed
Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.JCI Insight202641411050PubTator, text miningPubMed
A novel COL4A5 splicing variant in alport syndrome presenting with extreme myopia.Ophthalmic Genet202641399159PubTator, text miningPubMed
Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.Gene Ther202641291049PubTator, text miningPubMed
From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.Pediatr Nephrol202641243004PubTator, text miningPubMed
So3D: a comprehensive three-dimensional spatial omics resource for decoding tissue architecture in physiology and disease.Nucleic Acids Res202641062448PubTator, text miningPubMed
Nutcracker syndrome in an Alport family: a tricky case.Wien Klin Wochenschr202641051506PubTator, text miningPubMed
Treatment Approaches for Alport Syndrome.J Am Soc Nephrol202640938675PubTator, text miningPubMed
Genetic Characterization of Lithuanian Patients With Cystic Kidney.Clin Genet202640760778PubTator, text miningPubMed
Beyond Living Donor Kidney Transplantation in COL4 Nephropathy - A Real-World Clinical Dilemma in Light of Current Guidelines.Balkan J Med Genet202542147990PubTator, text miningPubMed
A beginner's guide to the clinical approach and key concepts of glomerular disease: a mini review.Asian Biomed (Res Rev News)202541728366PubTator, text miningPubMed
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.BMC Genomics202541436921PubTator, text miningPubMed
Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.PLoS One202541417821PubTator, text miningPubMed
Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Sci Rep202541398421PubTator, text miningPubMed
Increased in vivo transduction of AAV-9 cargo in Alport podocytes.Wellcome Open Res202541394796PubTator, text miningPubMed
Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy.Front Cardiovasc Med202541306271PubTator, text miningPubMed
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.Genes (Basel)202541300747PubTator, 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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