{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:22:53Z","timestamp":1791274973918,"version":"4.1.0"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1681\/asn.2010030301","type":"journal-article","created":{"date-parts":[[2010,4,15]],"date-time":"2010-04-15T21:51:39Z","timestamp":1271368299000},"page":"724-726","source":"Crossref","is-referenced-by-count":3,"title":["Synergistic Interaction between Ciliary Genes Reflects the Importance of Mutational Load in Ciliopathies"],"prefix":"10.1681","volume":"21","author":[{"given":"Sunjin","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott D.","family":"Weatherbee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-2-20230410","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0022-5347(05)65373-6","article-title":"The natural history of simple renal cysts","volume":"167","author":"Terada","year":"2002","journal-title":"J Urol"},{"key":"R2-2-20230410","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1440-1797.2007.00869.x","article-title":"Polycystic kidney disease and the renal cilium","volume":"12","author":"Deane","year":"2007","journal-title":"Nephrology (Carlton"},{"key":"R3-2-20230410","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: Cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"R4-2-20230410","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"},{"key":"R5-2-20230410","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"},{"key":"R6-2-20230410","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.c.30225","article-title":"Liver and kidney disease in ciliopathies","volume":"151C","author":"Gunay-Aygun","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R7-2-20230410","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1681\/ASN.2008050456","article-title":"Nephronophthisis: Disease mechanisms of a ciliopathy","volume":"20","author":"Hildebrandt","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R8-2-20230410","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/ng.97","article-title":"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome","volume":"40","author":"Leitch","year":"2008","journal-title":"Nat Genet"},{"key":"R9-2-20230410","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1093\/hmg\/ddn093","article-title":"Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning","volume":"17","author":"Tayeh","year":"2008","journal-title":"Hum Mol Genet"},{"key":"R10-2-20230410","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1242\/jcs.028621","article-title":"Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins","volume":"122","author":"Bialas","year":"2009","journal-title":"J Cell Sci"},{"key":"R11-2-20230410","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1091\/mbc.e07-10-1070","article-title":"Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis","volume":"19","author":"Williams","year":"2008","journal-title":"Mol Biol Cell"},{"key":"R12-2-20230410","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1681\/ASN.2009060597","article-title":"Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4","volume":"21","author":"Williams","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"R13-2-20230410","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1093\/hmg\/ddl459","article-title":"The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation","volume":"16","author":"Dawe","year":"2007","journal-title":"Hum Mol Genet"},{"key":"R14-2-20230410","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1681\/ASN.2008040412","article-title":"A mouse model for Meckel syndrome type 3","volume":"20","author":"Cook","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R15-2-20230410","doi-asserted-by":"crossref","first-page":"3311","DOI":"10.1093\/hmg\/ddp272","article-title":"Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3","volume":"18","author":"Tammachote","year":"2009","journal-title":"Hum Mol Genet"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201005000-00002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:32:25Z","timestamp":1786131145000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201005000-00002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2010030301","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2010,5]]}}}