{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:38:37Z","timestamp":1787027917617,"version":"build-2736575974"},"reference-count":78,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC). Primary cilium contributes to the regulation of the cell cycle and protein homeostasis, that is, the balance between protein synthesis and degradation by acting on the ubiquitin-proteasome system, autophagy, and mTOR signaling. Many proteins are involved in renal ciliopathies. In particular, fibrocystin (PKHD1) is involved in autosomal recessive polycystic kidney disease (ARPKD), while polycystin-1 (PKD1) and polycystin-2 (PKD2) are implicated in autosomal dominant polycystic kidney disease (ADPKD). Moreover, primary cilia are associated with essential signaling pathways, such as Hedgehog, Wnt, and Platelet-Derived Growth Factor (PDGF). In this review, we focused on the ciliopathies associated with kidney diseases, exploring genes and signaling pathways associated with primary cilium and the potential role of cilia as therapeutic targets in renal disorders.<\/jats:p>","DOI":"10.3390\/diagnostics10121099","type":"journal-article","created":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T22:12:06Z","timestamp":1608156726000},"page":"1099","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Exploring the Spectrum of Kidney Ciliopathies"],"prefix":"10.3390","volume":"10","author":[{"given":"Matteo","family":"Santoni","sequence":"first","affiliation":[{"name":"Oncology Unit, Macerata Hospital, 62100 Macerata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Piva","sequence":"additional","affiliation":[{"name":"Department of Specialistic Clinical and Odontostomatological Sciences, Polytechnic University of Marche, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Cimadamore","sequence":"additional","affiliation":[{"name":"Section of Pathological Anatomy, School of Medicine, United Hospitals, Polytechnic University of the Marche Region, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Giulietti","sequence":"additional","affiliation":[{"name":"Department of Specialistic Clinical and Odontostomatological Sciences, Polytechnic University of Marche, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Battelli","sequence":"additional","affiliation":[{"name":"Oncology Unit, Macerata Hospital, 62100 Macerata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodolfo","family":"Montironi","sequence":"additional","affiliation":[{"name":"Section of Pathological Anatomy, School of Medicine, United Hospitals, Polytechnic University of the Marche Region, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cosmai","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Dialysis, ASST Fatebenefratelli-Sacco, Fatebenefratelli Hospital, 20121 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camillo","family":"Porta","sequence":"additional","affiliation":[{"name":"Chair of Oncology, Department of Biomedical Sciences and Human Oncology, University of Bari \u2018A. Moro\u2019, 70121 Bari, Italy"},{"name":"Division of Medical Oncology, A.O.U. ConsorzialePoliclinico di Bari, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,16]]},"reference":[{"key":"ref_1","first-page":"54","article-title":"The Primary Cilium: An Orphan Organelle Finds a Home","volume":"3","author":"Adams","year":"2010","journal-title":"Nat. Educ."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1083\/jcb.91.1.69","article-title":"Central-pair microtubular complex of Chlamydomonas flagella: Polypeptide composition as revealed by analysis of mutants","volume":"91","author":"Adams","year":"1981","journal-title":"J. Cell Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1242\/jcs.050377","article-title":"The primary cilium at a glance","volume":"123","author":"Satir","year":"2010","journal-title":"J. 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