{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:23:52Z","timestamp":1793111032927,"version":"4.5.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,12,5]],"date-time":"2014-12-05T00:00:00Z","timestamp":1417737600000},"content-version":"vor","delay-in-days":187,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1016\/j.ajhg.2014.05.002","type":"journal-article","created":{"date-parts":[[2014,5,29]],"date-time":"2014-05-29T15:52:17Z","timestamp":1401378737000},"page":"905-914","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":130,"title":["Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability"],"prefix":"10.1016","volume":"94","author":[{"given":"Marion","family":"Failler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heon\u00a0Yung","family":"Gee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Krug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwangsic","family":"Joo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Halbritter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilya","family":"Belkacem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Filhol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan\u00a0D.","family":"Porath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela\u00a0A.","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schueler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"Frigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Alibeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Masson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Brochard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Hurault\u00a0de\u00a0Ligny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Novo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Pietrement","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Salomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire","family":"Gubler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar\u00a0A.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Benmerah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2014.05.002_bib1","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1007\/s00467-008-0840-z","article-title":"Nephronophthisis","volume":"24","author":"Salomon","year":"2009","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib2","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1056\/NEJMra1010172","article-title":"Ciliopathies","volume":"364","author":"Hildebrandt","year":"2011","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2014.05.002_bib3","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1146\/annurev.physiol.69.040705.141236","article-title":"Overview of structure and function of mammalian cilia","volume":"69","author":"Satir","year":"2007","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib4","doi-asserted-by":"crossref","DOI":"10.1016\/j.ddmec.2013.10.001","article-title":"Genetic bases and pathogenic mechanisms of nephronophthisis","author":"Delous","year":"2013","journal-title":"Drug Discov. Today Dis. Mech."},{"key":"10.1016\/j.ajhg.2014.05.002_bib5","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-012-2259-9","article-title":"Current insights into renal ciliopathies: what can genetics teach us?","volume":"28","author":"Arts","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib6","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.2014.05.002_bib7","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1681\/ASN.2007040490","article-title":"NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis","volume":"19","author":"Otto","year":"2008","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib8","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/ki.2008.662","article-title":"Mutations of NPHP2 and NPHP3 in infantile nephronophthisis","volume":"75","author":"Tory","year":"2009","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2014.05.002_bib9","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.ajhg.2013.09.012","article-title":"Defects in\u00a0the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans","volume":"93","author":"Halbritter","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.05.002_bib10","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-\u03baB pathway in cilia","volume":"93","author":"Huber","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.05.002_bib11","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."},{"key":"10.1016\/j.ajhg.2014.05.002_bib12","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/2046-2530-2-16","article-title":"Getting to the heart of intraflagellar transport using Trypanosoma and Chlamydomonas models: the strength is in their differences","volume":"2","author":"Morga","year":"2013","journal-title":"Cilia"},{"key":"10.1016\/j.ajhg.2014.05.002_bib13","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1126\/science.1209037","article-title":"The centrosome in cells and organisms","volume":"335","author":"Bornens","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2014.05.002_bib14","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/embor.2012.73","article-title":"The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization","volume":"13","author":"Reiter","year":"2012","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2014.05.002_bib15","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.2014.05.002_bib16","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1101\/gad.207043.112","article-title":"Centriole distal appendages promote membrane docking, leading to cilia initiation","volume":"27","author":"Tanos","year":"2013","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2014.05.002_bib17","doi-asserted-by":"crossref","first-page":"5987","DOI":"10.1073\/pnas.1220927110","article-title":"CCDC41 is required for ciliary vesicle docking to the mother centriole","volume":"110","author":"Joo","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2014.05.002_bib18","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1242\/bio.20134457","article-title":"Primary ciliogenesis requires the distal appendage component Cep123","volume":"2","author":"Sillibourne","year":"2013","journal-title":"Biol. Open"},{"key":"10.1016\/j.ajhg.2014.05.002_bib19","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.cell.2012.06.028","article-title":"Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling","volume":"150","author":"Chaki","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2014.05.002_bib20","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/humu.22477","article-title":"Ciliary genes TBC1D32\/C6orf170 and SCLT1 are mutated in patients with OFD type IX","volume":"35","author":"Adly","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2014.05.002_bib21","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ajhg.2012.06.017","article-title":"TCTN3 mutations cause Mohr-Majewski syndrome","volume":"91","author":"Thomas","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.05.002_bib22","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.ajhg.2012.03.006","article-title":"Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations","volume":"90","author":"Perrault","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.05.002_bib23","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1136\/jmedgenet-2012-100973","article-title":"High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation\u00a0sequencing","volume":"49","author":"Halbritter","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2014.05.002_bib24","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1083\/jcb.201202126","article-title":"Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis","volume":"199","author":"Schmidt","year":"2012","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib25","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1091\/mbc.12.6.1687","article-title":"Outer dense fiber 2 is a widespread centrosome scaffold component preferentially associated with mother centrioles: its identification from isolated centrosomes","volume":"12","author":"Nakagawa","year":"2001","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2014.05.002_bib26","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000331268","article-title":"Mutations in SDCCAG8\/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly","volume":"1","author":"Schaefer","year":"2011","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ajhg.2014.05.002_bib27","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."},{"key":"10.1016\/j.ajhg.2014.05.002_bib28","doi-asserted-by":"crossref","first-page":"3781","DOI":"10.1091\/mbc.E06-02-0133","article-title":"The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly","volume":"17","author":"Follit","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2014.05.002_bib29","doi-asserted-by":"crossref","first-page":"4957","DOI":"10.1529\/biophysj.107.120345","article-title":"Three-dimensional resolution doubling in wide-field fluorescence microscopy by structured illumination","volume":"94","author":"Gustafsson","year":"2008","journal-title":"Biophys. J."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714002225?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714002225?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,3]],"date-time":"2018-10-03T19:55:20Z","timestamp":1538596520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929714002225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S0002929714002225"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.05.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2014,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.05.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}