{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang L"],"funding":["NHLBI NIH HHS","NINDS NIH HHS"],"pagination":["371-387"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9624262"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["131(5)"],"pubmed_abstract":["<h4>Rationale</h4>Jacobsen syndrome is a rare chromosomal disorder caused by deletions in the long arm of human chromosome 11, resulting in multiple developmental defects including congenital heart defects. Combined studies in humans and genetically engineered mice implicate that loss of ETS1 (E26 transformation specific 1) is the cause of congenital heart defects in Jacobsen syndrome, but the underlying molecular and cellular mechanisms are unknown.<h4>Objective</h4>To determine the role of ETS1 in heart development, specifically its roles in coronary endothelium and endocardium and the mechanisms by which loss of ETS1 causes coronary vascular defects and ventricular noncompaction.<h4>Methods and results</h4>ETS1 global and endothelial-specific knockout mice were used. Phenotypic assessme"],"journal":["Circulation research"],"pubmed_title":["Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction."],"pmcid":["PMC9624262"],"funding_grant_id":["P30 NS047101","R01 HL153032","R01 HL157119","R01 HL155826","T32 HL007444"],"pubmed_authors":["Chen J","Qi H","Grossfeld P","Lin L","Wang L"],"additional_accession":[]},"is_claimable":false,"name":"Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.","description":"<h4>Rationale</h4>Jacobsen syndrome is a rare chromosomal disorder caused by deletions in the long arm of human chromosome 11, resulting in multiple developmental defects including congenital heart defects. Combined studies in humans and genetically engineered mice implicate that loss of ETS1 (E26 transformation specific 1) is the cause of congenital heart defects in Jacobsen syndrome, but the underlying molecular and cellular mechanisms are unknown.<h4>Objective</h4>To determine the role of ETS1 in heart development, specifically its roles in coronary endothelium and endocardium and the mechanisms by which loss of ETS1 causes coronary vascular defects and ventricular noncompaction.<h4>Methods and results</h4>ETS1 global and endothelial-specific knockout mice were used. Phenotypic assessme","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-28T02:06:17.599Z","creation":"2025-04-07T03:29:06.907Z"},"accession":"S-EPMC9624262","cross_references":{"pubmed":["35894043"],"doi":["10.1161/CIRCRESAHA.121.319955","10.1161/circresaha.121.319955"]}}