Gene · 1145
Papers471
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 471
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort. | Neuromuscul Disord | 2026 | 42727323 | PubTator, text mining | PubMed |
| Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China. | CNS Neurosci Ther | 2026 | 42699991 | PubTator, text mining | PubMed |
| Extracellular Vesicles in Cardiovascular Disease: Intercellular Signaling, Liquid Biopsy Biomarkers, and Therapeutic Translation. | Circ Res | 2026 | 42594169 | PubTator, text mining | PubMed |
| The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms. | Muscle Nerve | 2026 | 42383519 | PubTator, text mining | PubMed |
| Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants. | Neurol Int | 2026 | 42347111 | PubTator, text mining | PubMed |
Correction to: Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG). | Neurol Sci | 2026 | 42002656 | PubTator, text mining | PubMed |
Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG). | Neurol Sci | 2026 | 41906040 | PubTator, text mining | PubMed |
| Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers. | J Neurol | 2026 | 41575592 | PubTator, text mining | PubMed |
| Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants. | Clin Genet | 2026 | 41451794 | PubTator, text mining | PubMed |
| Identification of endoplasmic reticulum stress-related genes associated with Alzheimer's disease risk: A multi-omics Mendelian randomization analysis. | J Affect Disord | 2026 | 41314550 | PubTator, text mining | PubMed |
| Neuroactive ligand-receptor interaction in gastric cancer: a comprehensive spatial single-cell analysis. | Clin Transl Oncol | 2026 | 41239058 | PubTator, text mining | PubMed |
| Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation. | J Transl Med | 2025 | 41444612 | PubTator, text mining | PubMed |
| mfSuSiE enables multi-cell-type fine-mapping and multi-omic integration of chromatin accessibility QTLs in aging brain. | bioRxiv | 2025 | 41394596 | PubTator, text mining | PubMed |
| Distributional genetic effects reveal context-dependent molecular regulation in human brain aging and Alzheimer's disease. | Res Sq | 2025 | 41377971 | PubTator, text mining | PubMed |
| Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy. | Brain Commun | 2025 | 40980404 | PubTator, text mining | PubMed |
| Analysis and validation of novel biomarkers related to palmitoylation in adenomyosis. | Front Genet | 2025 | 40832467 | PubTator, text mining | PubMed |
| Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes. | Brain Dev | 2025 | 40768883 | PubTator, text mining | PubMed |
| Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency. | J Pak Med Assoc | 2025 | 40751639 | PubTator, text mining | PubMed |
| Identification of diagnostic DNA methylation markers in the blood of Japanese Alzheimer's disease patients using methylation capture sequencing. | Clin Epigenetics | 2025 | 40542379 | PubTator, text mining | PubMed |
| Identifying the mediating role of brain atrophy on the relationship between DNA damage repair pathway and Alzheimer's disease: A Mendelian randomization analysis and mediation analysis. | J Alzheimers Dis | 2025 | 40313062 | 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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