{"doi":"10.1016/j.ekir.2020.06.029","title":"Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations","abstract":"Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD-UMOD and to perform a Mendelian randomization study to determine if the minor allele of rs4293393 was associated with better kidney survival.","journal":"Kidney International Reports","year":2020,"id":65949,"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":54,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9586,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":54025,"name":"Petr Vyleťal","orcid":"0000-0002-9357-1237","position":1,"is_corresponding":false},{"id":259775,"name":"Céline Schaeffer","orcid":"0000-0001-5883-3951","position":2,"is_corresponding":false},{"id":259771,"name":"Eric Olinger","orcid":"0000-0003-1178-7980","position":3,"is_corresponding":false},{"id":259787,"name":"Martina Živná","orcid":"0000-0003-1968-824X","position":4,"is_corresponding":false},{"id":259782,"name":"Kateřina Hodaňová","orcid":"0000-0001-9172-9945","position":5,"is_corresponding":false},{"id":349777,"name":"Victoria Robins","orcid":null,"position":6,"is_corresponding":false},{"id":349004,"name":"Emily Johnson","orcid":"0000-0002-9334-1482","position":7,"is_corresponding":false},{"id":349778,"name":"Abbigail Taylor","orcid":null,"position":8,"is_corresponding":false},{"id":349005,"name":"Lauren Martin","orcid":"0009-0003-6450-5411","position":9,"is_corresponding":false},{"id":242650,"name":"Claudia Izzi","orcid":"0000-0001-6253-3185","position":10,"is_corresponding":false},{"id":349779,"name":"Sofía Jorge","orcid":null,"position":11,"is_corresponding":false},{"id":349006,"name":"Joaquim Calado","orcid":"0000-0002-1194-3392","position":12,"is_corresponding":false},{"id":349007,"name":"Rosa J. 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