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DYSF: dysferlin
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Gene · 8291

Papers2,035

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

1 to 20 of 2,035

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TitleJournalYearPMIDFound bySource
Genetic Sequencing in Saudi Patients with Systemic Lupus Erythematosus.Open Access Rheumatol202642770033PubTator, text miningPubMed
Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases.Front Pediatr202642729513PubTator, text miningPubMed
Integrated Transcriptomic and Machine-Learning Analyses Identify Shared Na+ Overload-Related Gene Signatures in Inflammatory Bowel Disease and Ankylosing Spondylitis.Genes (Basel)202642650131PubTator, text miningPubMed
Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.Respir Res202642634071PubTator, text miningPubMed
Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation.medRxiv202642620509PubTator, text miningPubMed
When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study.Arq Neuropsiquiatr202642595308PubTator, text miningPubMed
Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.Hum Mutat202642553504PubTator, text miningPubMed
Membrane proteomic profiling to identify candidate therapy targets for glioblastoma infiltration.Neurooncol Adv202642534387PubTator, text miningPubMed
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.J Neurol202642474733PubTator, text miningPubMed
Vav2 is a master regulator of repair against bacterial pore-forming toxins.Life Sci Alliance202642425763PubTator, text miningPubMed
Excess muscle plasma membrane leak disrupts ECM content and shifts macrophage-mediated muscle repair.JCI Insight202642406575PubTator, text miningPubMed
Exploring Dystrophin Expression and Mutations in the DMD and Dystrophin-Glycoprotein Complex Genes as Prognostic Factors in Leiomyosarcomas.Int J Mol Sci202642353010PubTator, text miningPubMed
Donor-specific pathological features associate with genetic background, lesion type distribution, and clinical heterogeneity in multiple sclerosis.Acta Neuropathol202642350827PubTator, text miningPubMed
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.J Neuromuscul Dis202642343573PubTator, text miningPubMed
Unfurling the role of dysferlin's C2A domain.J Gen Physiol202642283693PubTator, text miningPubMed
Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report.Gynecol Pelvic Med202642212284PubTator, text miningPubMed
Proteomic insights into azoospermia: protein differences in testicular tissue between non-obstructive and obstructive azoospermia patients.Asian J Androl202642210639PubTator, text miningPubMed
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.J Neurol202642189263PubTator, text miningPubMed
Dysferlin's C2A domain supports normal Ca2+ signaling and membrane repair in dysferlin-null myofibers.J Gen Physiol202642133058PubTator, text miningPubMed
Genetic Prognostic Factors in Multiple Sclerosis: Key Discoveries and Unmet Needs.Int J Mol Sci202642074220PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

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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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