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Gene · 6812

Papers1,814

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

121 to 140 of 1,814

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TitleJournalYearPMIDFound bySource
Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disorders.bioRxiv202439229131PubTator, text miningPubMed
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.J Clin Neurol202439227335PubTator, text miningPubMed
Investigation of the Effect of Peptide p5 Targeting CDK5-p25 Hyperactivity on Munc18-1 (P67) Regulating Neuronal Exocytosis Using Molecular Simulations.Biochemistry202438953497PubTator, text miningPubMed
STXBP1: fast-forward to a brighter future - a patient organization perspective.Ther Adv Rare Dis202438898886PubTator, text miningPubMed
Differential SNARE chaperoning by Munc13-1 and Munc18-1 dictates fusion pore fate at the release site.Nat Commun202438755165PubTator, text miningPubMed
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.medRxiv202438712155PubTator, text miningPubMed
Myelin basic protein antagonizes the SARS-CoV-2 protein ORF3a-induced autophagy inhibition.Biochimie202438703943PubTator, text miningPubMed
α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies.Hum Mol Genet202438692286PubTator, text miningPubMed
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.Neurol Genet202438681507PubTator, text miningPubMed
High-throughput assay for regulated secretion of neuropeptides in mouse and human neurons.J Biol Chem202438677517PubTator, text miningPubMed
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes (Basel)202438540325PubTator, text miningPubMed
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.J Neurodev Disord202438539105PubTator, text miningPubMed
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics202438498291PubTator, text miningPubMed
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.Biol Psychiatry202438490366PubTator, text miningPubMed
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.Hum Mol Genet202438484778PubTator, text miningPubMed
SNARE chaperone Sly1 directly mediates close-range vesicle tethering.J Cell Biol202438478018PubTator, text miningPubMed
Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders.Curr Probl Pediatr Adolesc Health Care202438472035PubTator, text miningPubMed
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Hum Genomics202438395944PubTator, text miningPubMed
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.Clin Genet202438374498PubTator, text miningPubMed
The role of the peripheral system dysfunction in the pathogenesis of sepsis-associated encephalopathy.Front Microbiol202438298892PubTator, 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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