Gene · 1778
Papers1,564
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
21 to 40 of 1,564
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans. | Nat Commun | 2026 | 41530147 | PubTator, text mining | PubMed |
| Integrative profiling of condensation-prone RNAs during early development. | Cell Genom | 2026 | 41265448 | PubTator, text mining | PubMed |
| Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia. | BMC Med Genomics | 2025 | 41430681 | PubTator, text mining | PubMed |
| DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders. | Mol Genet Genomic Med | 2025 | 41424373 | PubTator, text mining | PubMed |
| A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5. | JCEM Case Rep | 2025 | 41018173 | PubTator, text mining | PubMed |
| JIP4 and RILPL1 utilize opposing motor force to dynamically regulate lysosomal tubulation. | J Cell Biol | 2025 | 40990465 | PubTator, text mining | PubMed |
| ATG conjugation-dependent/independent mechanisms underlie lysosomal stress-induced TFEB regulation. | J Cell Biol | 2025 | 40880129 | PubTator, text mining | PubMed |
| Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations. | Genes (Basel) | 2025 | 40869966 | PubTator, text mining | PubMed |
| Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants. | Brain Dev | 2025 | 40818193 | PubTator, text mining | PubMed |
| A novel mutation in the DYNC1H1 gene causing developmental and epileptic encephalopathy treated with ketogenic diet: A case report. | Medicine (Baltimore) | 2025 | 40660528 | PubTator, text mining | PubMed |
| Oxidorhenium(V) complexes of apigenin: a rare example of catalysis with O,O-bidentate ligands obtained from a naturally renewable resource. | Dalton Trans | 2025 | 40600337 | PubTator, text mining | PubMed |
| Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum. | Ann Clin Transl Neurol | 2025 | 40443119 | PubTator, text mining | PubMed |
| Analysis of the DYNC1H1 Gene Polymorphic Variants' Association with ASD Occurrence and Clinical Phenotype of Affected Children. | Genes (Basel) | 2025 | 40428333 | PubTator, text mining | PubMed |
| FSO mathematical modelling and optimization base track to train communication under the atmospheric weather forecast conditions. | Sci Rep | 2025 | 40319077 | PubTator, text mining | PubMed |
| Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy. | Brain Commun | 2025 | 40290421 | PubTator, text mining | PubMed |
| Comprehensive Proteomics and Machine Learning Analysis to Distinguish Follicular Adenoma and Follicular Thyroid Carcinoma from Indeterminate Thyroid Nodules. | Endocrinol Metab (Seoul) | 2025 | 40205804 | PubTator, text mining | PubMed |
| [A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders]. | Zh Nevrol Psikhiatr Im S S Korsakova | 2025 | 40047846 | PubTator, text mining | PubMed |
| Depth of submucosal invasion vs. Haggitt level as prognostic predictors of pedunculated‑type early‑stage colorectal cancer removed by endoscopic resection. | Med Int (Lond) | 2025 | 39990726 | PubTator, text mining | PubMed |
| Osteosarcoma in an Adolescent With Germline DYNC1H1-Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis. | Pediatr Blood Cancer | 2025 | 39953669 | PubTator, text mining | PubMed |
| Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy. | Epilepsy Behav Rep | 2025 | 39834654 | 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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