{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:04:07Z","timestamp":1786986247616,"version":"build-2736575974"},"reference-count":173,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cellular Signalling"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.cellsig.2019.109519","type":"journal-article","created":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T14:19:01Z","timestamp":1577197141000},"page":"109519","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"special_numbering":"C","title":["Cilia in cystic kidney and other diseases"],"prefix":"10.1016","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6285-8796","authenticated-orcid":false,"given":"Gregory J.","family":"Pazour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne","family":"Quarmby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail O.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paurav B.","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1714-6749","authenticated-orcid":false,"given":"Miriam","family":"Schmidts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.cellsig.2019.109519_bb0005","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1093\/biosci\/biu174","article-title":"Cilia and Diseases","volume":"64","author":"Brown","year":"2014","journal-title":"Bioscience."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0010","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.200504008","article-title":"Proteomic analysis of a eukaryotic cilium","volume":"170","author":"Pazour","year":"2005","journal-title":"J. Cell Biol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0015","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","author":"Huber","year":"2012","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0020","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/boc.201900012","article-title":"Cilia in hereditary cerebral anomalies","volume":"111","author":"Thomas","year":"2019","journal-title":"Biol. Cell."},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0025","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a028274","article-title":"Photoreceptor cilia and retinal ciliopathies","volume":"9","author":"Bujakowska","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.cellsig.2019.109519_bb0030","series-title":"Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology","first-page":"67","article-title":"Role of cilia and left-right patterning in congenital heart disease","author":"Klena","year":"2016"},{"issue":"18","key":"10.1016\/j.cellsig.2019.109519_bb0035","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1093\/hmg\/ddh219","article-title":"Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation","volume":"13","author":"Ibanez-Tallon","year":"2004","journal-title":"Hum. Mol. Genet."},{"issue":"20","key":"10.1016\/j.cellsig.2019.109519_bb0040","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1016\/j.cub.2005.09.012","article-title":"PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts","volume":"15","author":"Schneider","year":"2005","journal-title":"Curr. Biol."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0045","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.cub.2010.02.048","article-title":"Primary cilia regulate branching morphogenesis during mammary gland development","volume":"20","author":"McDermott","year":"2010","journal-title":"Curr. Biol."},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0050","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1038\/ng1644","article-title":"Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates","volume":"37","author":"Ross","year":"2005","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0055","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ncb1670","article-title":"Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms","volume":"10","author":"Corbit","year":"2008","journal-title":"Nat. Cell Biol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0060","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1083\/jcb.200808137","article-title":"Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease","volume":"183","author":"Jonassen","year":"2008","journal-title":"J. Cell Biol."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0065","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1681\/ASN.2011080829","article-title":"Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation","volume":"23","author":"Jonassen","year":"2012","journal-title":"J. Am. Soc. Nephrol."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0070","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006839","article-title":"Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo","volume":"4","author":"Ocbina","year":"2009","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/j.cellsig.2019.109519_bb0075","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/ncb3363","article-title":"The polycystin complex mediates Wnt\/Ca(2+) signalling","volume":"18","author":"Kim","year":"2016","journal-title":"Nat. Cell Biol."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0080","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng1701","article-title":"Defective planar cell polarity in polycystic kidney disease","volume":"38","author":"Fischer","year":"2006","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0085","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1101\/gad.2008011","article-title":"Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia","volume":"25","author":"Wallingford","year":"2011","journal-title":"Genes Dev."},{"key":"10.1016\/j.cellsig.2019.109519_bb0090","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ceb.2016.02.008","article-title":"The primary cilium as a cellular receiver: organizing ciliary GPCR signaling","volume":"39","author":"Hilgendorf","year":"2016","journal-title":"Curr. Opin. Cell Biol."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0095","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1083\/jcb.201009069","article-title":"NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway","volume":"193","author":"Habbig","year":"2011","journal-title":"J. Cell Biol."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0100","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1093\/hmg\/ddt070","article-title":"Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression","volume":"22","author":"Frank","year":"2013","journal-title":"Hum. Mol. Genet."},{"issue":"26","key":"10.1016\/j.cellsig.2019.109519_bb0105","doi-asserted-by":"crossref","first-page":"5528","DOI":"10.1093\/hmg\/dds408","article-title":"The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ","volume":"21","author":"Habbig","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0110","doi-asserted-by":"crossref","first-page":"F542","DOI":"10.1152\/ajprenal.00201.2007","article-title":"Multiple renal cysts, urinary concentration defects, and pulmonary emphysematous changes in mice lacking TAZ","volume":"294","author":"Makita","year":"2008","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"7061","key":"10.1016\/j.cellsig.2019.109519_bb0115","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nature04117","article-title":"Vertebrate Smoothened functions at the primary cilium","volume":"437","author":"Corbit","year":"2005","journal-title":"Nature."},{"issue":"5836","key":"10.1016\/j.cellsig.2019.109519_bb0120","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1126\/science.1139740","article-title":"Patched1 regulates hedgehog signaling at the primary cilium","volume":"317","author":"Rohatgi","year":"2007","journal-title":"Science."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.0010053","article-title":"Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function","volume":"1","author":"Haycraft","year":"2005","journal-title":"PLoS Genet."},{"issue":"22","key":"10.1016\/j.cellsig.2019.109519_bb0130","doi-asserted-by":"crossref","first-page":"5301","DOI":"10.1242\/dev.129.22.5301","article-title":"Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney","volume":"129","author":"Yu","year":"2002","journal-title":"Development."},{"key":"10.1016\/j.cellsig.2019.109519_bb0135","article-title":"Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development","author":"D'Cruz","year":"2019","journal-title":"Pediatr. Nephrol."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0140","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1681\/ASN.2018121274","article-title":"Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease","volume":"30","author":"Ma","year":"2019","journal-title":"J. Am. Soc. Nephrol."},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0145","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1681\/ASN.2013070735","article-title":"Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models","volume":"25","author":"Tran","year":"2014","journal-title":"J. Am. Soc. Nephrol."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0150","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng2072","article-title":"Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis","volume":"39","author":"Attanasio","year":"2007","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0155","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1242\/dev.058149","article-title":"Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2","volume":"138","author":"Field","year":"2011","journal-title":"Development."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0160","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/S0960-9822(02)00869-2","article-title":"The ion channel polycystin-2 is required for left-right axis determination in mice","volume":"12","author":"Pennekamp","year":"2002","journal-title":"Curr. Biol."},{"key":"10.1016\/j.cellsig.2019.109519_bb0165","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1186\/1741-7007-10-102","article-title":"Cilia, calcium and the basis of left-right asymmetry","volume":"10","author":"Norris","year":"2012","journal-title":"BMC Biol."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0170","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1002\/dvdy.21669","article-title":"Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis","volume":"237","author":"Slough","year":"2008","journal-title":"Dev. Dyn."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0175","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.ahj.2003.05.003","article-title":"Prevalence of congenital heart disease","volume":"147","author":"Hoffman","year":"2004","journal-title":"Am. Heart J."},{"issue":"7","key":"10.1016\/j.cellsig.2019.109519_bb0180","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1073\/pnas.1019645108","article-title":"Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning","volume":"108","author":"Fakhro","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"18","key":"10.1016\/j.cellsig.2019.109519_bb0185","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1161\/CIRCULATIONAHA.111.079780","article-title":"High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy","volume":"125","author":"Nakhleh","year":"2012","journal-title":"Circulation."},{"key":"10.1016\/j.cellsig.2019.109519_bb0190","doi-asserted-by":"crossref","first-page":"11103","DOI":"10.1038\/ncomms11103","article-title":"Genetic link between renal birth defects and congenital heart disease","volume":"7","author":"San Agustin","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.cellsig.2019.109519_bb0195","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1146\/annurev-biochem-013118-111153","article-title":"Mechanism and Regulation of Centriole and Cilium Biogenesis","volume":"88","author":"Breslow","year":"2019","journal-title":"Annu. Rev. Biochem."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0200","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.228833","article-title":"Hatzopoulos G.N. Centriole assembly at a glance","volume":"132","author":"Gonczy","year":"2019","journal-title":"J. Cell Sci."},{"issue":"7","key":"10.1016\/j.cellsig.2019.109519_bb0205","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/nrm3373","article-title":"Towards a molecular architecture of centriole assembly","volume":"13","author":"Gonczy","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0210","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.devcel.2009.12.022","article-title":"Ofd1, a human disease gene, regulates the length and distal structure of centrioles","volume":"18","author":"Singla","year":"2010","journal-title":"Dev. Cell"},{"issue":"20","key":"10.1016\/j.cellsig.2019.109519_bb0215","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1016\/S0960-9822(01)00484-5","article-title":"Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles","volume":"11","author":"Deane","year":"2001","journal-title":"Curr. Biol."},{"issue":"17","key":"10.1016\/j.cellsig.2019.109519_bb0220","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1101\/gad.1810409","article-title":"The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation","volume":"23","author":"Dammermann","year":"2009","journal-title":"Genes Dev."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0225","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","article-title":"Primary microcephaly: do all roads lead to Rome?","volume":"25","author":"Thornton","year":"2009","journal-title":"Trends Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0230","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1146\/annurev.cellbio.21.122303.120418","article-title":"Centrosomes in cellular regulation","volume":"21","author":"Doxsey","year":"2005","journal-title":"Annu. Rev. Cell Dev. Biol."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0235","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ncb1529","article-title":"Loss of centrosome integrity induces p38-p53-p21-dependent G1-S arrest","volume":"9","author":"Mikule","year":"2007","journal-title":"Nat. Cell Biol."},{"issue":"5990","key":"10.1016\/j.cellsig.2019.109519_bb0240","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1126\/science.1191054","article-title":"A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution","volume":"329","author":"Hu","year":"2010","journal-title":"Science."},{"issue":"49","key":"10.1016\/j.cellsig.2019.109519_bb0245","doi-asserted-by":"crossref","first-page":"18556","DOI":"10.1073\/pnas.0608291103","article-title":"FAPP2, cilium formation, and compartmentalization of the apical membrane in polarized Madin-Darby canine kidney (MDCK) cells","volume":"103","author":"Vieira","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0250","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1083\/jcb.98.1.97","article-title":"Submicromolar levels of calcium control the balance of beating between the two flagella in demembranated models of Chlamydomonas","volume":"98","author":"Kamiya","year":"1984","journal-title":"J. Cell Biol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0255","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1083\/jcb.54.3.507","article-title":"Chlamydomonas flagella. I. Isolation and electrophoretic analysis of microtubules, matrix, membranes, and mastigonemes","volume":"54","author":"Witman","year":"1972","journal-title":"J. Cell Biol."},{"issue":"7479","key":"10.1016\/j.cellsig.2019.109519_bb0260","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/nature12833","article-title":"Primary cilia are specialized calcium signalling organelles","volume":"504","author":"Delling","year":"2013","journal-title":"Nature."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0265","doi-asserted-by":"crossref","first-page":"6523","DOI":"10.1038\/s41598-019-43002-2","article-title":"Sensory primary cilium is a responsive cAMP microdomain in renal epithelia","volume":"9","author":"Sherpa","year":"2019","journal-title":"Sci. Rep."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0270","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1083\/jcb.53.2.494","article-title":"The ciliary necklace. A ciliary membrane specialization","volume":"53","author":"Gilula","year":"1972","journal-title":"J. Cell Biol."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0275","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.891","article-title":"A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition","volume":"43","author":"Garcia-Gonzalo","year":"2011","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0280","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1083\/jcb.201006105","article-title":"CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content","volume":"190","author":"Craige","year":"2010","journal-title":"J. Cell Biol."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0285","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.cell.2011.04.019","article-title":"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways","volume":"145","author":"Sang","year":"2011","journal-title":"Cell."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0290","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1083\/jcb.201012116","article-title":"MKS and NPHP modules cooperate to establish basal body\/transition zone membrane associations and ciliary gate function during ciliogenesis","volume":"192","author":"Williams","year":"2011","journal-title":"J. Cell Biol."},{"issue":"12","key":"10.1016\/j.cellsig.2019.109519_bb0295","doi-asserted-by":"crossref","first-page":"5519","DOI":"10.1073\/pnas.90.12.5519","article-title":"A motility in the eukaryotic flagellum unrelated to flagellar beating","volume":"90","author":"Kozminski","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0300","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1083\/jcb.141.4.993","article-title":"Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons","volume":"141","author":"Cole","year":"1998","journal-title":"J. Cell Biol."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0305","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","article-title":"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis","volume":"129","author":"Nachury","year":"2007","journal-title":"Cell."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0310","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1083\/jcb.144.3.473","article-title":"The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly","volume":"144","author":"Pazour","year":"1999","journal-title":"J. Cell Biol."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0315","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1242\/dev.128.9.1493","article-title":"elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms","volume":"128","author":"Haycraft","year":"2001","journal-title":"Development."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0320","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1242\/dev.127.11.2347","article-title":"The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination","volume":"127","author":"Murcia","year":"2000","journal-title":"Development."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0325","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1083\/jcb.151.3.709","article-title":"Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella","volume":"151","author":"Pazour","year":"2000","journal-title":"J. Cell Biol."},{"issue":"6962","key":"10.1016\/j.cellsig.2019.109519_bb0330","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/nature02061","article-title":"Hedgehog signalling in the mouse requires intraflagellar transport proteins","volume":"426","author":"Huangfu","year":"2003","journal-title":"Nature."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0335","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng2038","article-title":"IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy","volume":"39","author":"Beales","year":"2007","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0340","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.ydbio.2006.09.001","article-title":"Hippi is essential for node cilia assembly and Sonic hedgehog signaling","volume":"300","author":"Houde","year":"2006","journal-title":"Dev. Biol."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0345","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ydbio.2011.09.001","article-title":"Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation","volume":"360","author":"Berbari","year":"2011","journal-title":"Dev. Biol."},{"issue":"13","key":"10.1016\/j.cellsig.2019.109519_bb0350","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1242\/dev.01894","article-title":"Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors","volume":"132","author":"Liu","year":"2005","journal-title":"Development."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0355","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ydbio.2015.02.009","article-title":"IFT46 plays an essential role in cilia development","volume":"400","author":"Lee","year":"2015","journal-title":"Dev. Biol."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0360","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ydbio.2013.05.024","article-title":"Cluap1 localizes preferentially to the base and tip of cilia and is required for ciliogenesis in the mouse embryo","volume":"381","author":"Botilde","year":"2013","journal-title":"Dev. Biol."},{"issue":"Pt 19","key":"10.1016\/j.cellsig.2019.109519_bb0365","doi-asserted-by":"crossref","first-page":"4088","DOI":"10.1242\/jcs.03187","article-title":"IFTA-2 is a conserved cilia protein involved in pathways regulating longevity and dauer formation in Caenorhabditis elegans","volume":"119","author":"Schafer","year":"2006","journal-title":"J. Cell Sci."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0370","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.devcel.2014.09.011","article-title":"IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment","volume":"31","author":"Eguether","year":"2014","journal-title":"Dev. Cell"},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0375","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.devcel.2012.04.009","article-title":"IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport","volume":"22","author":"Keady","year":"2012","journal-title":"Dev. Cell"},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0380","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004689","article-title":"A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling","volume":"10","author":"Swiderski","year":"2014","journal-title":"PLoS Genet."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0385","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1242\/dev.143255","article-title":"IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture","volume":"144","author":"Xin","year":"2017","journal-title":"Development."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0390","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.ajhg.2013.09.012","article-title":"Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans","volume":"93","author":"Halbritter","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0395","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1093\/hmg\/ddu441","article-title":"Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome","volume":"24","author":"Bujakowska","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0400","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/jhg.2015.162","article-title":"Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome","volume":"61","author":"Schaefer","year":"2016","journal-title":"J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0405","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1136\/jmg.2009.069468","article-title":"Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum","volume":"48","author":"Cavalcanti","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0410","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3389\/fgene.2019.00021","article-title":"Identification and characterization of known biallelic mutations in the IFT27 (BBS19) gene in a novel family with bardet-biedl syndrome","volume":"10","author":"Schaefer","year":"2019","journal-title":"Front. Genet."},{"issue":"7","key":"10.1016\/j.cellsig.2019.109519_bb0415","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1002\/ajmg.a.38685","article-title":"Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis","volume":"176","author":"Quelin","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0420","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/0012-1606(86)90314-3","article-title":"Mutant sensory cilia in the nematode Caenorhabditis elegans","volume":"117","author":"Perkins","year":"1986","journal-title":"Dev. Biol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0425","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1534\/genetics.109.101915","article-title":"Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii","volume":"183","author":"Iomini","year":"2009","journal-title":"Genetics."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0430","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1093\/hmg\/ddr613","article-title":"Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies","volume":"21","author":"Ashe","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0435","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1038\/ng.105","article-title":"THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia","volume":"40","author":"Tran","year":"2008","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0440","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.ydbio.2008.10.020","article-title":"Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122\/Wdr10, partially overlapping with the DNA repair gene Med1\/Mbd4","volume":"325","author":"Cortellino","year":"2009","journal-title":"Dev. Biol."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0445","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1073\/pnas.1011410108","article-title":"Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components","volume":"108","author":"Qin","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0450","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.ajhg.2011.03.015","article-title":"Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis","volume":"88","author":"Mill","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0455","series-title":"GeneReviews((R))","article-title":"Cranioectodermal dysplasia","author":"Arts","year":"1993"},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0460","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1002\/ajmg.a.36265","article-title":"Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients","volume":"161A","author":"Lin","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0465","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1002\/ajmg.a.38157","article-title":"Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122","volume":"173","author":"Silveira","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0470","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.2011.088864","article-title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome","volume":"48","author":"Arts","year":"2011","journal-title":"J. Med. Genet."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0475","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2010.04.012","article-title":"Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene","volume":"86","author":"Walczak-Sztulpa","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0480","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13630-017-0051-y","article-title":"Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia","volume":"6","author":"Duran","year":"2017","journal-title":"Cilia."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0485","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ajhg.2011.10.001","article-title":"Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19","volume":"89","author":"Bredrup","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0490","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0495","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmedgenet-2012-101284","article-title":"Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement","volume":"50","author":"Schmidts","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0500","doi-asserted-by":"crossref","first-page":"7074","DOI":"10.1038\/ncomms8074","article-title":"TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport","volume":"6","author":"Schmidts","year":"2015","journal-title":"Nat. Commun."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0505","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1083\/jcb.145.4.825","article-title":"Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-\/- mice analysis","volume":"145","author":"Takeda","year":"1999","journal-title":"J. Cell Biol."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0510","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","article-title":"Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein","volume":"95","author":"Nonaka","year":"1998","journal-title":"Cell."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0515","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1091\/mbc.10.2.345","article-title":"Two heteromeric kinesin complexes in chemosensory neurons and sensory cilia of Caenorhabditis elegans","volume":"10","author":"Signor","year":"1999","journal-title":"Mol. Biol. Cell"},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0520","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.neuron.2011.02.049","article-title":"Molecular motor KIF17 is fundamental for memory and learning via differential support of synaptic NR2A\/2B levels","volume":"70","author":"Yin","year":"2011","journal-title":"Neuron."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0525","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0167-4889(00)00015-X","article-title":"Understanding the functions of kinesin-II","volume":"1496","author":"Marszalek","year":"2000","journal-title":"Biochim. Biophys. Acta"},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0530","doi-asserted-by":"crossref","first-page":"4382","DOI":"10.1091\/mbc.e04-05-0377","article-title":"A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport","volume":"15","author":"Hou","year":"2004","journal-title":"Mol. Biol. Cell"},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0535","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1083\/jcb.141.4.979","article-title":"A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT)","volume":"141","author":"Pazour","year":"1998","journal-title":"J. Cell Biol."},{"issue":"Pt 20","key":"10.1016\/j.cellsig.2019.109519_bb0540","doi-asserted-by":"crossref","first-page":"3653","DOI":"10.1242\/jcs.012773","article-title":"Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor","volume":"120","author":"Rompolas","year":"2007","journal-title":"J. Cell Sci."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0545","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ydbio.2005.08.050","article-title":"Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli","volume":"287","author":"May","year":"2005","journal-title":"Dev. Biol."},{"issue":"20","key":"10.1016\/j.cellsig.2019.109519_bb0550","doi-asserted-by":"crossref","first-page":"4999","DOI":"10.1242\/dev.01389","article-title":"Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates","volume":"131","author":"Rana","year":"2004","journal-title":"Development."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0555","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ajhg.2009.04.016","article-title":"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III","volume":"84","author":"Dagoneau","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0560","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.ajhg.2009.03.015","article-title":"Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome","volume":"84","author":"Merrill","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0565","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.ajhg.2013.10.003","article-title":"Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy","volume":"93","author":"Schmidts","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0570","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.ajhg.2013.10.007","article-title":"WDR34 mutations that cause short-rib polydactyly syndrome type III\/severe asphyxiating thoracic dysplasia reveal a role for the NF-kappaB pathway in cilia","volume":"93","author":"Huber","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0575","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.ajhg.2013.06.022","article-title":"Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60","volume":"93","author":"McInerney-Leo","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0580","doi-asserted-by":"crossref","first-page":"7092","DOI":"10.1038\/ncomms8092","article-title":"Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome","volume":"6","author":"Taylor","year":"2015","journal-title":"Nat. Commun."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0585","first-page":"46","article-title":"Clinical genetics and pathobiology of ciliary chondrodysplasias","volume":"3","author":"Schmidts","year":"2014","journal-title":"J Pediatr Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0590","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1083\/jcb.201607095","article-title":"Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins","volume":"216","author":"Badgandi","year":"2017","journal-title":"J. Cell Biol."},{"issue":"19","key":"10.1016\/j.cellsig.2019.109519_bb0595","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1101\/gad.1966210","article-title":"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia","volume":"24","author":"Mukhopadhyay","year":"2010","journal-title":"Genes Dev."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0600","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.220749","article-title":"A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia","volume":"132","author":"Picariello","year":"2019","journal-title":"J. Cell Sci."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0605","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/embor.2013.37","article-title":"The interplay between RPGR, PDEdelta and Arl2\/3 regulate the ciliary targeting of farnesylated cargo","volume":"14","author":"Watzlich","year":"2013","journal-title":"EMBO Rep."},{"issue":"22","key":"10.1016\/j.cellsig.2019.109519_bb0610","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1101\/gad.173443.111","article-title":"An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium","volume":"25","author":"Wright","year":"2011","journal-title":"Genes Dev."},{"issue":"7050","key":"10.1016\/j.cellsig.2019.109519_bb0615","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/nature03818","article-title":"Functional coordination of intraflagellar transport motors","volume":"436","author":"Ou","year":"2005","journal-title":"Nature."},{"issue":"7","key":"10.1016\/j.cellsig.2019.109519_bb0620","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1083\/jcb.200909183","article-title":"The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella","volume":"187","author":"Lechtreck","year":"2009","journal-title":"J. Cell Biol."},{"issue":"13","key":"10.1016\/j.cellsig.2019.109519_bb0625","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1101\/gad.1194004","article-title":"Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport","volume":"18","author":"Blacque","year":"2004","journal-title":"Genes Dev."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0630","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1038\/ng1418","article-title":"Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse","volume":"36","author":"Kulaga","year":"2004","journal-title":"Nat. Genet."},{"issue":"47","key":"10.1016\/j.cellsig.2019.109519_bb0635","doi-asserted-by":"crossref","first-page":"16588","DOI":"10.1073\/pnas.0405496101","article-title":"Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin","volume":"101","author":"Nishimura","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"23","key":"10.1016\/j.cellsig.2019.109519_bb0640","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0645","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1093\/hmg\/dds004","article-title":"BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes","volume":"21","author":"Zhang","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"Pt 11","key":"10.1016\/j.cellsig.2019.109519_bb0650","first-page":"2372","article-title":"BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking","volume":"126","author":"Zhang","year":"2013","journal-title":"J. Cell Sci."},{"issue":"25","key":"10.1016\/j.cellsig.2019.109519_bb0655","doi-asserted-by":"crossref","first-page":"10320","DOI":"10.1073\/pnas.1016531108","article-title":"Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting","volume":"108","author":"Tadenev","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0660","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1016\/j.celrep.2013.11.011","article-title":"Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia","volume":"5","author":"Loktev","year":"2013","journal-title":"Cell Rep."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0665","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1073\/pnas.0711027105","article-title":"Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia","volume":"105","author":"Berbari","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0670","doi-asserted-by":"crossref","first-page":"3380","DOI":"10.1073\/pnas.0712327105","article-title":"Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia","volume":"105","author":"Shah","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.cellsig.2019.109519_bb0675","series-title":"GeneReviews((R))","author":"Forsythe","year":"1993"},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0680","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/cge.13500","article-title":"Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes","volume":"95","author":"Mary","year":"2019","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0685","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1681\/ASN.2015091029","article-title":"Risk factors for severe renal disease in bardet-biedl syndrome","volume":"28","author":"Forsythe","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0690","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1210\/jc.2017-01459","article-title":"The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population","volume":"103","author":"Mujahid","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"5538","key":"10.1016\/j.cellsig.2019.109519_bb0695","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0700","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1086\/375178","article-title":"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome","volume":"72","author":"Beales","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0705","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","article-title":"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort","volume":"13","author":"Hichri","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.cellsig.2019.109519_bb0710","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/ejhg.2011.205","article-title":"In search of triallelism in Bardet-Biedl syndrome","volume":"20","author":"Abu-Safieh","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.cellsig.2019.109519_bb0715","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1136\/jmg.2010.079392","article-title":"BBS10 mutations are common in \u2018Meckel\u2019-type cystic kidneys","volume":"47","author":"Putoux","year":"2010","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0720","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng867","article-title":"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome","volume":"31","author":"Collin","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cellsig.2019.109519_bb0725","series-title":"GeneReviews((R))","article-title":"Alstrom syndrome","author":"Paisey","year":"1993"},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0730","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1161\/01.RES.0000020201.44772.67","article-title":"Cardiomyocyte cell cycle regulation","volume":"90","author":"Pasumarthi","year":"2002","journal-title":"Circ. Res."},{"key":"10.1016\/j.cellsig.2019.109519_bb0735","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1038\/ncomms4416","article-title":"Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes","volume":"5","author":"Shenje","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.cellsig.2019.109519_bb0740","first-page":"171","article-title":"Alstrom syndrome: current perspectives","volume":"8","author":"Alvarez-Satta","year":"2015","journal-title":"Appl. Clin. Genet."},{"issue":"21","key":"10.1016\/j.cellsig.2019.109519_bb0745","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1091\/mbc.e10-03-0246","article-title":"Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731","volume":"21","author":"Knorz","year":"2010","journal-title":"Mol. Biol. Cell"},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0750","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1093\/hmg\/ddq493","article-title":"Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity","volume":"20","author":"Jagger","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"16","key":"10.1016\/j.cellsig.2019.109519_bb0755","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1093\/hmg\/ddi235","article-title":"Alms1-disrupted mice recapitulate human Alstrom syndrome","volume":"14","author":"Collin","year":"2005","journal-title":"Hum. Mol. Genet."},{"issue":"6751","key":"10.1016\/j.cellsig.2019.109519_bb0760","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/43913","article-title":"A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans","volume":"401","author":"Barr","year":"1999","journal-title":"Nature."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0765","doi-asserted-by":"crossref","first-page":"R378","DOI":"10.1016\/S0960-9822(02)00877-1","article-title":"Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease","volume":"12","author":"Pazour","year":"2002","journal-title":"Curr. Biol."},{"issue":"10","key":"10.1016\/j.cellsig.2019.109519_bb0770","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1097\/01.ASN.0000029587.47950.25","article-title":"The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia","volume":"13","author":"Yoder","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0775","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1083\/jcb.200704069","article-title":"Function and dynamics of PKD2 in Chlamydomonas reinhardtii flagella","volume":"179","author":"Huang","year":"2007","journal-title":"J. Cell Biol."},{"issue":"2","key":"10.1016\/j.cellsig.2019.109519_bb0780","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ng1076","article-title":"Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells","volume":"33","author":"Nauli","year":"2003","journal-title":"Nat. Genet."},{"issue":"7596","key":"10.1016\/j.cellsig.2019.109519_bb0785","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1038\/nature17426","article-title":"Primary cilia are not calcium-responsive mechanosensors","volume":"531","author":"Delling","year":"2016","journal-title":"Nature."},{"issue":"7596","key":"10.1016\/j.cellsig.2019.109519_bb0790","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/nature17313","article-title":"Cell biology: Calcium contradictions in cilia","volume":"531","author":"Norris","year":"2016","journal-title":"Nature."},{"key":"10.1016\/j.cellsig.2019.109519_bb0795","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/bs.mcb.2019.04.012","article-title":"Intravital visualization of the primary cilium, tubule flow, and innate immune cells in the kidney utilizing an abdominal window imaging approach","volume":"154","author":"Revell","year":"2019","journal-title":"Methods Cell Biol."},{"issue":"11","key":"10.1016\/j.cellsig.2019.109519_bb0800","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1007\/s00467-007-0504-4","article-title":"Molecular regulation of kidney development: is the answer blowing in the Wnt?","volume":"22","author":"Merkel","year":"2007","journal-title":"Pediatr. Nephrol."},{"issue":"3","key":"10.1016\/j.cellsig.2019.109519_bb0805","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0810","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1083\/jcb.200910096","article-title":"The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence","volume":"188","author":"Follit","year":"2010","journal-title":"J. Cell Biol."},{"issue":"20","key":"10.1016\/j.cellsig.2019.109519_bb0815","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/hmg\/ddg274","article-title":"Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia","volume":"12","author":"Ward","year":"2003","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0820","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1016\/j.gastro.2003.09.001","article-title":"Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat","volume":"125","author":"Masyuk","year":"2003","journal-title":"Gastroenterology."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0825","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.1073\/pnas.0400073101","article-title":"PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells","volume":"101","author":"Zhang","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6","key":"10.1016\/j.cellsig.2019.109519_bb0830","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1139\/bcb-2014-0062","article-title":"Expression of polycystins and fibrocystin on primary cilia of lung cells","volume":"92","author":"Hu","year":"2014","journal-title":"Biochem. Cell Biol."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0835","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.kint.2017.04.027","article-title":"A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism","volume":"92","author":"Outeda","year":"2017","journal-title":"Kidney Int."},{"issue":"12","key":"10.1016\/j.cellsig.2019.109519_bb0840","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1681\/ASN.2010111173","article-title":"Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin","volume":"22","author":"Bakeberg","year":"2011","journal-title":"J. Am. Soc. Nephrol."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0845","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.20029","article-title":"PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum. Mutat."},{"issue":"9","key":"10.1016\/j.cellsig.2019.109519_bb0850","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1038\/ng.2715","article-title":"Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease","volume":"45","author":"Ma","year":"2013","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.cellsig.2019.109519_bb0855","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease","volume":"34","author":"Schmidts","year":"2013","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.cellsig.2019.109519_bb0860","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.cellsig.2019.109519_bb0865","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/ncb3201","article-title":"An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes","volume":"17","author":"Wheway","year":"2015","journal-title":"Nat. Cell Biol."}],"container-title":["Cellular Signalling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0898656819303158?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0898656819303158?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T10:55:57Z","timestamp":1760266557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0898656819303158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":173,"alternative-id":["S0898656819303158"],"URL":"https:\/\/doi.org\/10.1016\/j.cellsig.2019.109519","relation":{},"ISSN":["0898-6568"],"issn-type":[{"value":"0898-6568","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cilia in cystic kidney and other diseases","name":"articletitle","label":"Article Title"},{"value":"Cellular Signalling","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cellsig.2019.109519","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"109519"}}