{"doi":"10.1101/2021.05.20.445037","title":"A cellular and molecular portrait of endometriosis subtypes","abstract":"Abstract Endometriosis is a common, benign condition characterized by extensive heterogeneity in lesion appearance and patient symptoms. We profiled transcriptomes of 207,949 individual cells from endometriomata (n=7), extra-ovarian endometriosis (n=19), eutopic endometrium (n=4), unaffected ovary (n=1) and endometriosis-free peritoneum (n=4) to create a cellular atlas of endometrial-type epithelial cells, endometrial-type stromal cells and microenvironmental cell populations across tissue sites. Signatures of endometrial-type epithelium and stroma differed markedly across eutopic endometrium, endometrioma, superficial extra-ovarian disease and deep infiltrating endometriosis, suggesting that extensive transcriptional reprogramming is a core component of the disease process. Endometriomas were notable for the dysregulation of pro-inflammatory pathways and upregulation of complement proteins C3 and C7 . Somatic ARID1A mutation in epithelial cells was associated with upregulation of pro-angiogenic factor SOX17 and remodeling of the endothelial cell compartment. Finally, signatures of endometriosis-associated endometrial-type epithelial clusters were enriched in ovarian cancers, reinforcing the epidemiologic associations between these two diseases.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2021,"id":215092,"datarank":0.39993120722950415,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.08801497597752869,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.08801497597752869,"corpus_percentile":54.23532142028313,"corpus_rank":5917,"citation_count":7,"citer_count":7,"citers_with_citation_signal":7,"citers_with_endowment":7,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6609,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":561524,"name":"Kelly N. 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Dinh","orcid":"0000-0002-3307-1126","position":16,"is_corresponding":false},{"id":634638,"name":"Amal M. El-Naggar","orcid":"0000-0002-3202-6171","position":17,"is_corresponding":false},{"id":1715,"name":"David G. Huntsman","orcid":"0000-0003-4934-3322","position":18,"is_corresponding":false},{"id":22203,"name":"Michael S. Anglesio","orcid":"0000-0003-1639-5003","position":19,"is_corresponding":false},{"id":33585,"name":"Marc T. Goodman","orcid":"0000-0002-4839-3021","position":20,"is_corresponding":false},{"id":562350,"name":"Fabíola Medeiros","orcid":null,"position":21,"is_corresponding":false},{"id":561526,"name":"Matthew T. Siedhoff","orcid":"0000-0001-7524-2467","position":22,"is_corresponding":false},{"id":321180,"name":"Kate Lawrenson","orcid":"0000-0002-6469-2515","position":23,"is_corresponding":false},{"id":625960,"name":"Marcos A. Fonseca","orcid":"0000-0002-6172-3558","position":0,"is_corresponding":true}],"reference_count":56,"raw_metadata":null,"created_at":"2026-07-18T23:52:51.201033Z","pmid":null,"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":[]}