{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T19:54:36Z","timestamp":1793735676045,"version":"4.6.1"},"reference-count":72,"publisher":"American Physiological Society","issue":"4","funder":[{"name":"European Union's Seventh Framework Program","award":["317246"],"award-info":[{"award-number":["317246"]}]},{"name":"Dutch Technology Foundation Stichting Technische Wetenschappen","award":["11823"],"award-info":[{"award-number":["11823"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Renal Physiology"],"published-print":{"date-parts":[[2017,4,1]]},"abstract":"<jats:p> Polycystic kidney disease (PKD) is a major cause of end-stage renal disease. The disease mechanisms are not well understood and the pathogenesis toward renal failure remains elusive. In this study, we present the first RNASeq analysis of a Pkd1-mutant mouse model in a combined meta-analysis with other published PKD expression profiles. We introduce the PKD Signature, a set of 1,515 genes that are commonly dysregulated in PKD studies. We show that the signature genes include many known and novel PKD-related genes and functions. Moreover, genes with a role in injury repair, as evidenced by expression data and\/or automated literature analysis, were significantly enriched in the PKD Signature, with 35% of the PKD Signature genes being directly implicated in injury repair. NF-\u03baB signaling, epithelial-mesenchymal transition, inflammatory response, hypoxia, and metabolism were among the most prominent injury or repair-related biological processes with a role in the PKD etiology. Novel PKD genes with a role in PKD and in injury were confirmed in another Pkd1-mutant mouse model as well as in animals treated with a nephrotoxic agent. We propose that compounds that can modulate the injury-repair response could be valuable drug candidates for PKD treatment. <\/jats:p>","DOI":"10.1152\/ajprenal.00653.2016","type":"journal-article","created":{"date-parts":[[2017,2,2]],"date-time":"2017-02-02T01:20:16Z","timestamp":1485998416000},"page":"F806-F817","source":"Crossref","is-referenced-by-count":35,"title":["Meta-analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes"],"prefix":"10.1152","volume":"312","author":[{"given":"Tareq B.","family":"Malas","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Formica","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter N.","family":"Leonhard","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Rao","sequence":"additional","affiliation":[{"name":"GenomeScan, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoraide","family":"Granchi","sequence":"additional","affiliation":[{"name":"GenomeScan, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorien J. 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