Gene · 3073
Papers1,522
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
41 to 60 of 1,522
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases. | Mol Genet Metab Rep | 2025 | 40386041 | PubTator, text mining | PubMed |
| Exomeres and supermeres: Current advances and perspectives. | Bioact Mater | 2025 | 40276541 | PubTator, text mining | PubMed |
| Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases. | J Neurol | 2025 | 40266357 | PubTator, text mining | PubMed |
| Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A. | Clin Case Rep | 2025 | 40177156 | PubTator, text mining | PubMed |
| Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis. | Clin Transl Sci | 2025 | 40016926 | PubTator, text mining | PubMed |
| Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting. | Eur J Hum Genet | 2025 | 39870877 | PubTator, text mining | PubMed |
| GRASP55 regulates sorting and maturation of the lysosomal enzyme β-hexosaminidase A. | Mol Biol Cell | 2025 | 39841559 | PubTator, text mining | PubMed |
| Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective. | Mol Ther Nucleic Acids | 2025 | 39759878 | PubTator, text mining | PubMed |
| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population. | Am J Med Genet A | 2025 | 39470296 | PubTator, text mining | PubMed |
| Hypoxia-driven mobilization of altruistic cancer stem cells in platinum-treated head and neck cancer. | Front Immunol | 2024 | 39963656 | PubTator, text mining | PubMed |
| Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes. | Neurol Genet | 2024 | 39807213 | PubTator, text mining | PubMed |
| Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis. | medRxiv | 2024 | 39802759 | PubTator, text mining | PubMed |
| Antinociceptive Potential of Ximenia americana L. Bark Extract and Caffeic Acid: Insights into Pain Modulation Pathways. | Pharmaceuticals (Basel) | 2024 | 39770512 | PubTator, text mining | PubMed |
| Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease. | Hum Genome Var | 2024 | 39609393 | PubTator, text mining | PubMed |
| Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice. | J Mol Med (Berl) | 2024 | 39514043 | PubTator, text mining | PubMed |
| Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis. | Front Neurol | 2024 | 39430583 | PubTator, text mining | PubMed |
| Regionally enriched rare deleterious exonic variants in the UK and Ireland. | Nat Commun | 2024 | 39358353 | PubTator, text mining | PubMed |
| Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein. | Mol Ther Methods Clin Dev | 2024 | 39211733 | PubTator, text mining | PubMed |
| Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility. | Neurol Genet | 2024 | 39184309 | PubTator, text mining | PubMed |
| Genome-scale CRISPR-Cas9 screening in stem cells: theories, applications and challenges. | Stem Cell Res Ther | 2024 | 39026343 | 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.
For software
Read this list from software.
Twenty rows a page, as JSON. No key.
GET https://conductscience.org/api/genes/v1/3073/papers?page=3