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.
121 to 140 of 2,035
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. | Int J Mol Sci | 2024 | 38891760 | PubTator, text mining | PubMed |
| Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy. | Adv Sci (Weinh) | 2024 | 38887849 | PubTator, text mining | PubMed |
| Thinking Beyond Disease Silos: Dysregulated Genes Common in Tuberculosis and Lung Cancer as Identified by Systems Biology and Machine Learning. | OMICS | 2024 | 38856681 | PubTator, text mining | PubMed |
| Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. | Neurogenetics | 2024 | 38758368 | PubTator, text mining | PubMed |
| On the role of dysferlin in striated muscle: membrane repair, t-tubules and Ca2+ handling. | J Physiol | 2024 | 38615232 | PubTator, text mining | PubMed |
| The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments. | Biomolecules | 2024 | 38540676 | PubTator, text mining | PubMed |
| A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report. | BMC Musculoskelet Disord | 2024 | 38539162 | PubTator, text mining | PubMed |
| Identification of therapeutic targets in osteoarthritis by combining heterogeneous transcriptional datasets, drug-induced expression profiles, and known drug-target interactions. | J Transl Med | 2024 | 38491514 | PubTator, text mining | PubMed |
| Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study. | BMC Neurol | 2024 | 38491364 | PubTator, text mining | PubMed |
| Identification of hub genes and pathogenesis in Kawasaki disease based on bioinformatics analysis. | Indian J Pathol Microbiol | 2024 | 38427757 | PubTator, text mining | PubMed |
| Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein. | Gene | 2024 | 38381504 | PubTator, text mining | PubMed |
| Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report. | BMC Musculoskelet Disord | 2024 | 38365661 | PubTator, text mining | PubMed |
| Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels. | Mol Syndromol | 2024 | 38357257 | PubTator, text mining | PubMed |
| Caveolae disassemble upon membrane lesioning and foster cell survival. | iScience | 2024 | 38303730 | PubTator, text mining | PubMed |
| How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction? | Proteomes | 2024 | 38250815 | PubTator, text mining | PubMed |
| Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases. | Acta Neuropathol | 2024 | 38214778 | PubTator, text mining | PubMed |
| Unexpected extra exon skipping in the DYSF gene during restoring the reading frame by CRISPR/Cas9. | Biosystems | 2024 | 37944631 | PubTator, text mining | PubMed |
| The separate axes of TECPR1 and ATG16L1 in CASM. | Autophagy | 2024 | 37676042 | PubTator, text mining | PubMed |
| Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene. | Hum Mutat | 2023 | 40225150 | PubTator, text mining | PubMed |
| Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. | Neurol Genet | 2023 | 38235364 | PubTator, text mining | PubMed |
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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