Gene · 25836
Papers1,575
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 1,575
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| An In Vitro Assay to Study RSC Remodeling Activity Stimulation by the Cohesin Loader. | Methods Mol Biol | 2026 | 41111112 | PubTator, text mining | PubMed |
| Clinical and molecular findings in Cornelia de Lange syndrome. Case series. | Andes Pediatr | 2025 | 41842779 | PubTator, text mining | PubMed |
| Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort. | Res Sq | 2025 | 41510282 | PubTator, text mining | PubMed |
| Cohesin drives chromatin scanning during the RAD51-mediated homology search. | Science | 2025 | 41343630 | PubTator, text mining | PubMed |
| Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype. | medRxiv | 2025 | 41332805 | PubTator, text mining | PubMed |
| Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort. | Diagnostics (Basel) | 2025 | 41300846 | PubTator, text mining | PubMed |
| Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review. | Children (Basel) | 2025 | 41300558 | PubTator, text mining | PubMed |
| Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant. | Mol Syndromol | 2025 | 41230206 | PubTator, text mining | PubMed |
| Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience. | Int J Mol Sci | 2025 | 41155467 | PubTator, text mining | PubMed |
| Characterization of induced cohesin loop extrusion trajectories in living cells. | Nat Genet | 2025 | 41102415 | PubTator, text mining | PubMed |
| Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families. | Int J Mol Sci | 2025 | 41096937 | PubTator, text mining | PubMed |
| Similarity Constrained CC2: Toward Efficient Coupled Cluster Nonadiabatic Dynamics among Excited States. | J Chem Theory Comput | 2025 | 41091562 | PubTator, text mining | PubMed |
| Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants. | BMC Ophthalmol | 2025 | 41088053 | PubTator, text mining | PubMed |
| Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption. | bioRxiv | 2025 | 41040233 | PubTator, text mining | PubMed |
| A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin. | Biomed Rep | 2025 | 41020259 | PubTator, text mining | PubMed |
| Four-limb CFST latticed columns seismic performance: experimental and ANN predictions. | Sci Rep | 2025 | 41006802 | PubTator, text mining | PubMed |
| Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome. | Front Genet | 2025 | 41000420 | PubTator, text mining | PubMed |
| Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients. | Pediatr Investig | 2025 | 40969288 | PubTator, text mining | PubMed |
| De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis. | Mol Genet Genomic Med | 2025 | 40923359 | PubTator, text mining | PubMed |
| Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report. | Seizure | 2025 | 40916267 | 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.
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