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Gene · 85358

Papers2,252

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
ZCCHC17: a target for synaptic dysfunction and neuronal excitability in Alzheimer's disease.Front Aging Neurosci202641743466PubTator, text miningPubMed
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Front Immunol202641727503PubTator, text miningPubMed
Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.Cell Death Dis202641723111PubTator, text miningPubMed
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Front Genet202641716258PubTator, text miningPubMed
Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.Int J Mol Sci202641683985PubTator, text miningPubMed
Unraveling mGluR5 dysfunction in autism spectrum disorder: a multi-level analysis of genetic, molecular, and neurobiological mechanisms.J Neural Transm (Vienna)202641653294PubTator, text miningPubMed
CDK2 inhibition promotes neuronal differentiation in neuroblastoma.Sci Rep202641644599PubTator, text miningPubMed
"SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".Mol Psychiatry202641620577PubTator, text miningPubMed
Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.MethodsX202641551253PubTator, text miningPubMed
<p>Harnessing MSC‑derived exosomes to modulate the pathophysiology of ASD: Recent advances and therapeutic implications (Review)</p>.Int J Mol Med202641543180PubTator, text miningPubMed
Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.Brain Commun202641523187PubTator, text miningPubMed
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.Mol Genet Genomic Med202641507692PubTator, text miningPubMed
Review on the role of hippocampus in autism spectrum disorder: Recent insights into neuropathology, genetics, and emerging therapeutic strategies.Neurobiol Dis202641412318PubTator, text miningPubMed
Generating and characterizing human telencephalic brain organoids from stem cell-derived single neural rosettes.Nat Protoc202640579542PubTator, text miningPubMed
Excitatory/Inhibitory balance in autism spectrum disorders: Integrating genetic, neurotransmitter and computational perspectives.AIMS Neurosci202541523331PubTator, text miningPubMed
The Convergence of Early-Life Stress and Autism Spectrum Disorder on the Epigenetics of Genes Key to the HPA Axis.Biology (Basel)202541514907PubTator, text miningPubMed
Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.Front Genet202541282476PubTator, text miningPubMed
Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.BMC Psychiatry202541219921PubTator, text miningPubMed
Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.ACS Chem Neurosci202541166593PubTator, text miningPubMed
Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome.Life (Basel)202541157259PubTator, 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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