{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:23:51Z","timestamp":1793111031854,"version":"4.5.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1721,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1016\/j.ajhg.2008.10.002","type":"journal-article","created":{"date-parts":[[2008,10,24]],"date-time":"2008-10-24T08:39:34Z","timestamp":1224837574000},"page":"559-571","source":"Crossref","is-referenced-by-count":210,"title":["CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290"],"prefix":"10.1016","volume":"83","author":[{"given":"Nicholas T.","family":"Gorden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heleen H.","family":"Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karlien L.M.","family":"Coene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stef J.F.","family":"Letteboer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia E.C.","family":"van Beersum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorus A.","family":"Mans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Hikida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Eckert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Knutzen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman F.","family":"Alswaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamit","family":"\u00d6zyurek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sel","family":"Dibooglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar A.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangfan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica E.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn M.","family":"Hutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo K.","family":"Bammler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederico M.","family":"Farin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Dorschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Top\u00e7u","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Rosenthal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly N.","family":"Owens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin W.","family":"Rubel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Raible","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V.A.M.","family":"Knoers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip F.","family":"Chance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia B.","family":"Moens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2008.10.002_bib1","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/sj.ejhg.5201648","article-title":"Joubert syndrome (and related disorders) (OMIM 213300)","volume":"15","author":"Parisi","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.1320320217","article-title":"Further delineation of a syndrome of cerebellar vermis hypo\/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis","volume":"32","author":"Verloes","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib3","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","article-title":"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome","volume":"39","author":"Arts","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib4","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib5","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4","volume":"38","author":"Sayer","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib6","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1086\/510499","article-title":"The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome","volume":"80","author":"Baala","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib7","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":"10.1016\/j.ajhg.2008.10.002_bib8","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","article-title":"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination","volume":"34","author":"Otto","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib9","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib10","doi-asserted-by":"crossref","DOI":"10.1038\/ki.2008.377","article-title":"Jouberin localizes to collecting ducts and interacts with nephrocystin-1","author":"Eley","year":"2008","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2008.10.002_bib11","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/S0929-693X(00)00183-4","article-title":"Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes","volume":"8","author":"Graber","year":"2001","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.ajhg.2008.10.002_bib12","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0887-8994(02)00619-7","article-title":"Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I","volume":"28","author":"Takano","year":"2003","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib13","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ajhg.2008.06.023","article-title":"Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome","volume":"83","author":"Cantagrel","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib14","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1146\/annurev.genom.7.080505.115610","article-title":"The ciliopathies: An emerging class of human genetic disorders","volume":"7","author":"Badano","year":"2006","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib15","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.2007.054999","article-title":"Recent advances in the molecular pathology, cell biology and genetics of ciliopathies","volume":"45","author":"Adams","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib16","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","article-title":"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome","volume":"38","author":"Valente","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib17","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis","volume":"79","author":"den Hollander","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib18","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1086\/519494","article-title":"Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome","volume":"81","author":"Baala","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib19","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1083\/jcb.200707181","article-title":"Cep164, a novel centriole appendage protein required for primary cilium formation","volume":"179","author":"Graser","year":"2007","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib20","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":"10.1016\/j.ajhg.2008.10.002_bib21","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1086\/320113","article-title":"Null RPGRIP1 alleles in patients with Leber congenital amaurosis","volume":"68","author":"Dryja","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib22","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1016\/j.ajhg.2008.01.021","article-title":"CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa","volume":"82","author":"Noor","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib23","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/j.ajhg.2008.05.004","article-title":"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle","volume":"82","author":"Tallila","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib24","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib25","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","article-title":"Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children","volume":"236","author":"Lander","year":"1987","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2008.10.002_bib26","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2008.10.002_bib27","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2008.10.002_bib28","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/nrg2220","article-title":"Steady progress and recent breakthroughs in the accuracy of automated genome annotation","volume":"9","author":"Brent","year":"2008","journal-title":"Natl. Rev."},{"key":"10.1016\/j.ajhg.2008.10.002_bib29","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/nature02166","article-title":"Proteomic characterization of the human centrosome by protein correlation profiling","volume":"426","author":"Andersen","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2008.10.002_bib30","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."},{"key":"10.1016\/j.ajhg.2008.10.002_bib31","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/978-1-4020-5943-8_10","article-title":"Protein networks and complexes in photoreceptor cilia","volume":"43","author":"Roepman","year":"2007","journal-title":"Subcell. Biochem."},{"key":"10.1016\/j.ajhg.2008.10.002_bib32","doi-asserted-by":"crossref","first-page":"e1000020","DOI":"10.1371\/journal.pgen.1000020","article-title":"Identification of genetic and chemical modulators of zebrafish mechanosensory hair cell death","volume":"4","author":"Owens","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib33","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1242\/dev.01772","article-title":"Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis","volume":"132","author":"Kramer-Zucker","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2008.10.002_bib34","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1083\/jcb.101.6.2085","article-title":"Monoclonal antibodies specific for an acetylated form of alpha-tubulin recognize the antigen in cilia and flagella from a variety of organisms","volume":"101","author":"Piperno","year":"1985","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib35","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1136\/jmg.2005.036608","article-title":"AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome","volume":"43","author":"Parisi","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib36","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/nature04370","article-title":"Dissection of epistasis in oligogenic Bardet-Biedl syndrome","volume":"439","author":"Badano","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2008.10.002_bib37","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1681\/ASN.2007020243","article-title":"Evidence of oligogenic inheritance in nephronophthisis","volume":"18","author":"Hoefele","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib38","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"},{"key":"10.1016\/j.ajhg.2008.10.002_bib39","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.40.5.311","article-title":"Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes","volume":"40","author":"Johnson","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib40","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/cne.21345","article-title":"Ultrastructural analysis of aminoglycoside-induced hair cell death in the zebrafish lateral line reveals an early mitochondrial response","volume":"502","author":"Owens","year":"2007","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib41","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/ng0906-961","article-title":"The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia","volume":"38","author":"Gherman","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.002_bib42","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.cub.2005.04.059","article-title":"Functional genomics of the cilium, a sensory organelle","volume":"15","author":"Blacque","year":"2005","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2008.10.002_bib43","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1242\/dev.01775","article-title":"Analysis of xbx genes in C. elegans","volume":"132","author":"Efimenko","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2008.10.002_bib44","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0092-8674(04)00412-X","article-title":"Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis","volume":"117","author":"Avidor-Reiss","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2008.10.002_bib45","doi-asserted-by":"crossref","first-page":"5969","DOI":"10.1073\/pnas.0407928102","article-title":"Scanning the human proteome for calmodulin-binding proteins","volume":"102","author":"Shen","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2008.10.002_bib46","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng1520","article-title":"Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin","volume":"37","author":"Otto","year":"2005","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708005363?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708005363?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T17:35:54Z","timestamp":1684604154000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929708005363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":46,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["S0002929708005363"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2008.10.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11]]}}}