{"doi":"10.1016/j.xjon.2025.06.013","title":"Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles","abstract":"Objectives: Loeys-Dietz syndrome comprises genetically discrete subtypes of varying clinical severity. This study integrates longitudinal Loeys-Dietz syndrome clinical outcomes after aortic root replacement with transcriptomic analysis of aortic smooth muscle cell dysregulation to investigate mechanisms governing this subtype-specific aortic vulnerability. Methods: variants. Results: ) and inflammatory pathways. Conclusions: Loeys-Dietz syndrome subtypes may demonstrate variable clinical outcomes after aortic root replacement. Distinct gene dysregulation patterns suggest varying smooth muscle cell-extracellular matrix interactions may participate in clinical variation.","journal":"JTCVS Open","year":2025,"id":553272,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9289,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":367644,"name":"Alex R. Dalal","orcid":"0000-0002-9993-3817","position":1,"is_corresponding":false},{"id":880799,"name":"Jennifer Kim","orcid":"0000-0002-8937-8637","position":2,"is_corresponding":false},{"id":1307361,"name":"Matthew Duda","orcid":"0000-0003-1442-7614","position":3,"is_corresponding":false},{"id":1108677,"name":"Emily Tognozzi","orcid":null,"position":4,"is_corresponding":false},{"id":1118280,"name":"Casey Gilles","orcid":"0009-0008-3527-629X","position":5,"is_corresponding":false},{"id":1293470,"name":"D. Craig Miller","orcid":"0000-0001-7619-0080","position":6,"is_corresponding":false},{"id":17066,"name":"Michael P. Fischbein","orcid":"0000-0002-0638-2025","position":7,"is_corresponding":false},{"id":367642,"name":"Albert J Pedroza","orcid":"0000-0001-5291-5980","position":0,"is_corresponding":true}],"reference_count":31,"raw_metadata":null,"created_at":"2026-07-19T02:54:41.819682Z","pmid":"40923070","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}