{"doi":"10.1101/2024.06.24.24309093","title":"Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity","abstract":"Summary We report a novel cause of partial lipodystrophy associated with early B cell factor 2 ( EBF2 ) nonsense variant ( EBF2 8:26033143 C>A, c.493G>T, p.E165X) in a patient with an atypical form of partial lipodystrophy. The patient presented with progressive adipose tissue loss and metabolic deterioration at pre-pubertal age. In vitro and in vivo disease modeling demonstrates that the EBF2 variant impairs adipogenesis, causing excess accumulation of undifferentiated CD34 + cells, extracellular matrix proteins, and inflammatory myeloid cells in subcutaneous adipose tissues. Thus, this EBF2 p.E165X variant disrupts adipose tissue structure and function, leading to the development of partial lipodystrophy syndrome.","journal":"Insula-revista De Letras Y Ciencias Humanas","year":2024,"id":498741,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9501,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1049441,"name":"Donatella Gilio","orcid":"0000-0001-9609-6286","position":1,"is_corresponding":false},{"id":467025,"name":"André Monteiro da Rocha","orcid":"0000-0003-3324-3773","position":2,"is_corresponding":false},{"id":322765,"name":"Lynn Pais","orcid":"0000-0001-9673-4305","position":3,"is_corresponding":false},{"id":848430,"name":"Melanie O’Leary","orcid":"0000-0002-8718-4759","position":4,"is_corresponding":false},{"id":33006,"name":"Heidi L. Rehm","orcid":"0000-0002-6025-0015","position":5,"is_corresponding":false},{"id":699268,"name":"Adam Neidert","orcid":"0009-0000-6444-0417","position":6,"is_corresponding":false},{"id":7372,"name":"Miriam S. Udler","orcid":"0000-0003-3824-9162","position":7,"is_corresponding":false},{"id":232258,"name":"Patrick Seale","orcid":"0000-0001-7119-1615","position":8,"is_corresponding":false},{"id":699270,"name":"Elif A Oral","orcid":"0000-0002-9171-1144","position":9,"is_corresponding":false},{"id":1345334,"name":"Tae‐Hwa Chun","orcid":"0000-0001-9333-2589","position":10,"is_corresponding":false},{"id":1345688,"name":"Tae-Hwa Chun","orcid":null,"position":11,"is_corresponding":false},{"id":747208,"name":"Maria Cristina Foss‐Freitas","orcid":"0000-0002-1350-1125","position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T02:09:42.181447Z","pmid":"38978649","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":[]}