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Gene · 6607

Papers3,510

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

2,021 to 2,040 of 3,510

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TitleJournalYearPMIDFound bySource
Droplet microfluidics for high-sensitivity and high-throughput detection and screening of disease biomarkers.Wiley Interdiscip Rev Nanomed Nanobiotechnol201829797414PubTator, text miningPubMed
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.Nat Commun201829795225PubTator, text miningPubMed
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.Hum Mol Genet201829790918PubTator, text miningPubMed
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.Sci Rep201829784949PubTator, text miningPubMed
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.Nucleic Acids Res201829762696PubTator, text miningPubMed
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.NPJ Genom Med201829760947PubTator, text miningPubMed
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.Genet Med201829758563PubTator, text miningPubMed
Therapeutic advances in 5q-linked spinal muscular atrophy.Arq Neuropsiquiatr201829742241PubTator, text miningPubMed
Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.EBioMedicine201829735415PubTator, text miningPubMed
Cell-Penetrating Peptides to Enhance Delivery of Oligonucleotide-Based Therapeutics.Biomedicines201829734750PubTator, text miningPubMed
Targeting RNA in mammalian systems with small molecules.Wiley Interdiscip Rev RNA201829726113PubTator, text miningPubMed
Recent Advances in Antisense Oligonucleotide Therapy in Genetic Neuromuscular Diseases.Ann Indian Acad Neurol201829720791PubTator, text miningPubMed
Mechanistic studies of a small-molecule modulator of SMN2 splicing.Proc Natl Acad Sci U S A201829712837PubTator, text miningPubMed
New and developing therapies in spinal muscular atrophy.Paediatr Respir Rev201829703692PubTator, text miningPubMed
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.Hum Mol Genet201829701768PubTator, text miningPubMed
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.J Neuromuscul Dis201829689734PubTator, text miningPubMed
Splicing mutations in human genetic disorders: examples, detection, and confirmation.J Appl Genet201829680930PubTator, text miningPubMed
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.Nucleic Acids Res201829672717PubTator, text miningPubMed
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy.J Neurosci Methods201829649521PubTator, text miningPubMed
Structural plasticity of the TDRD3 Tudor domain probed by a fragment screening hit.FEBS J201829645362PubTator, 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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