{"doi":"10.1101/2021.10.25.465762","title":"A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations","abstract":"Summary Basement membranes (BMs) are ubiquitous extracellular matrices whose composition remains elusive, limiting our understanding of BM regulation and function. By developing a bioinformatic and in vivo discovery pipeline, we define a network of 222 human proteins localized to BMs. Network analysis and screening in C. elegans and zebrafish identified new BM regulators, including ADAMTS, ROBO, and TGFβ. More than 100 BM-network genes associate with human phenotypes and by screening 63,039 genomes from families with rare disorders, we discovered loss-of-function variants in LAMA5 , MPZL2 , and MATN2, and show they regulate BM composition and function. This cross-disciplinary study establishes the immense complexity and role of BMs in human health.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2021,"id":215612,"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":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9391,"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":810430,"name":"Mychel Morais","orcid":"0000-0001-5237-9524","position":1,"is_corresponding":false},{"id":57108,"name":"Jamie M. Ellingford","orcid":"0000-0003-1137-9768","position":2,"is_corresponding":false},{"id":323229,"name":"Sandhya Srinivasan","orcid":"0000-0002-0455-6239","position":3,"is_corresponding":false},{"id":810431,"name":"Richard W. Naylor","orcid":"0000-0003-2901-7677","position":4,"is_corresponding":false},{"id":810432,"name":"Craig Lawless","orcid":"0000-0002-8240-3430","position":5,"is_corresponding":false},{"id":810433,"name":"Anna S Li","orcid":"0000-0003-2707-3990","position":6,"is_corresponding":false},{"id":810434,"name":"Jack Ingham","orcid":"0000-0002-9938-0714","position":7,"is_corresponding":false},{"id":247637,"name":"Eric Hastie","orcid":"0000-0001-8313-4079","position":8,"is_corresponding":false},{"id":247640,"name":"Qiuyi Chi","orcid":"0000-0003-1297-4163","position":9,"is_corresponding":false},{"id":810435,"name":"Maryline Fresquet","orcid":"0000-0001-9530-6392","position":10,"is_corresponding":false},{"id":810436,"name":"Nikki-Maria Koudis","orcid":"0000-0002-9449-2119","position":11,"is_corresponding":false},{"id":651228,"name":"Huw B. Thomas","orcid":"0000-0001-9626-9706","position":12,"is_corresponding":false},{"id":651238,"name":"Raymond T. O’Keefe","orcid":"0000-0001-8764-1289","position":13,"is_corresponding":false},{"id":218186,"name":"E. G. Williams","orcid":"0000-0003-3913-5095","position":14,"is_corresponding":false},{"id":810437,"name":"Antony Adamson","orcid":"0000-0002-5408-0013","position":15,"is_corresponding":false},{"id":810438,"name":"Helen M. Stuart","orcid":"0000-0003-2569-235X","position":16,"is_corresponding":false},{"id":274081,"name":"Siddharth Banka","orcid":"0000-0002-8527-2210","position":17,"is_corresponding":false},{"id":11700,"name":"Damian Smedley","orcid":"0000-0002-5836-9850","position":18,"is_corresponding":false},{"id":247644,"name":"David R. Sherwood","orcid":"0000-0002-4448-6917","position":19,"is_corresponding":false},{"id":329062,"name":"Rachel Lennon","orcid":"0000-0001-6400-0227","position":20,"is_corresponding":false},{"id":247638,"name":"Ranjay Jayadev","orcid":"0000-0003-0465-0337","position":0,"is_corresponding":true}],"reference_count":91,"raw_metadata":null,"created_at":"2026-07-18T23:52:55.971300Z","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":[]}