{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:06:58Z","timestamp":1792058818870,"version":"4.4.0"},"reference-count":0,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2006,1,17]],"date-time":"2006-01-17T00:00:00Z","timestamp":1137456000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Expert Rev. Mol. Med."],"published-print":{"date-parts":[[2006,1,17]]},"abstract":"<jats:p>Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest inherited human disorders yet remains relatively unknown to the wider medical, scientific and public audience. ADPKD is characterised by the development of bilateral enlarged kidneys containing multiple fluid-filled cysts and is a leading cause of end-stage renal failure (ESRF). ADPKD is caused by mutations in two genes: <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2<\/jats:italic>. The protein products of the <jats:italic>PKD<\/jats:italic> genes, polycystin-1 and polycystin-2, form a calcium-regulated, calcium-permeable ion channel. The polycystin complex is implicated in regulation of the cell cycle via multiple signal transduction pathways as well as the mechanosensory function of the renal primary cilium, an enigmatic cellular organelle whose role in normal physiology is still poorly understood. Defects in cilial function are now documented in several other human diseases including autosomal recessive polycystic kidney disease, nephronophthisis, Bardet\u2013Biedl syndrome and many animal models of polycystic kidney disease. Therapeutic trials in these animal models of polycystic kidney disease have identified several promising drugs that ameliorate disease severity. However, elucidation of the function of the polycystins and the primary cilium will have a major impact on our understanding of renal cystic diseases and will create exciting new opportunities for the design of disease-specific therapies.<\/jats:p>","DOI":"10.1017\/s1462399406010362","type":"journal-article","created":{"date-parts":[[2006,1,17]],"date-time":"2006-01-17T04:41:39Z","timestamp":1137472899000},"page":"1-22","source":"Crossref","is-referenced-by-count":42,"title":["Molecular pathogenesis of autosomal dominant polycystic kidney disease"],"prefix":"10.1017","volume":"8","author":[{"given":"Bradley K.","family":"Yoder","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Mulroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Eustace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boucher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Sandford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2006,1,17]]},"container-title":["Expert Reviews in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1462399406010362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,29]],"date-time":"2019-03-29T15:02:51Z","timestamp":1553871771000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1462399406010362\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1,17]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,1,17]]}},"alternative-id":["S1462399406010362"],"URL":"https:\/\/doi.org\/10.1017\/s1462399406010362","relation":{},"ISSN":["1462-3994"],"issn-type":[{"value":"1462-3994","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1,17]]}}}