{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sanchez AC"],"funding":["Lehigh University","National Institutes of Health","NIGMS NIH HHS"],"pagination":["501-513"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8942496"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["21(5)"],"pubmed_abstract":["Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including <i>SMC3</i>, CdLS) and <i>ESCO2</i> (RBS). Though ESCO2 activates cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable. Here, we identify a unifying mechanism that integrates these genetic maladies to pharmacologically-induced teratogenicity via thalidomide. Our results reveal that Esco2 and cohesin co-regulate the transcription of a component of CRL4 ubiquitin ligase through which thalidomide exerts teratogenic effects. These findings are the first to link RBS and CdLS to thalidomide teratogenicity and offer new insights into treatments."],"journal":["Cell cycle (Georgetown, Tex.)"],"pubmed_title":["Esco2 and cohesin regulate CRL4 ubiquitin ligase <i>ddb1</i> expression and thalidomide teratogenicity."],"pmcid":["PMC8942496"],"funding_grant_id":["R15GM110631","Faculty Research Grant","R15 GM110631","R15 GM139097","Nemes Graduate Student Research Fellowship"],"pubmed_authors":["Iovine MK","Skibbens RV","Thren ED","Sanchez AC"],"additional_accession":[]},"is_claimable":false,"name":"Esco2 and cohesin regulate CRL4 ubiquitin ligase <i>ddb1</i> expression and thalidomide teratogenicity.","description":"Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including <i>SMC3</i>, CdLS) and <i>ESCO2</i> (RBS). Though ESCO2 activates cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable. Here, we identify a unifying mechanism that integrates these genetic maladies to pharmacologically-induced teratogenicity via thalidomide. Our results reveal that Esco2 and cohesin co-regulate the transcription of a component of CRL4 ubiquitin ligase through which thalidomide exerts teratogenic effects. These findings are the first to link RBS and CdLS to thalidomide teratogenicity and offer new insights into treatments.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T08:53:53.385Z","creation":"2025-04-04T08:53:53.385Z"},"accession":"S-EPMC8942496","cross_references":{"pubmed":["34989322"],"doi":["10.1080/15384101.2021.2023304"]}}