{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T03:10:31Z","timestamp":1789787431522,"version":"4.0.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.braindev.2017.11.002","type":"journal-article","created":{"date-parts":[[2017,12,6]],"date-time":"2017-12-06T08:35:35Z","timestamp":1512549335000},"page":"259-267","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases"],"prefix":"10.1016","volume":"40","author":[{"given":"Masayuki","family":"Itoh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Ide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keishi","family":"Narita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Yamakura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeki","family":"Furue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotsugu","family":"Kitayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Maeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eihiko","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Matsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Arima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2017.11.002_b0005","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.braindev.2013.06.005","article-title":"Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis","volume":"36","author":"Itoh","year":"2014","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2017.11.002_b0010","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.a.30294","article-title":"Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes","volume":"131","author":"Kumada","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2017.11.002_b0015","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1111\/j.1469-8749.2011.04021.x","article-title":"The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders","volume":"53","author":"Sattar","year":"2011","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2017.11.002_b0020","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s00467-010-1585-z","article-title":"Nephronophthisis","volume":"26","author":"Wolf","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.braindev.2017.11.002_b0025","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/ng0707-818","article-title":"Clinical variability in ciliary disorders","volume":"39","author":"Mykytyn","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0030","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/cge.12836","article-title":"Molecular genetic analysis of 30 families with Joubert syndrome","volume":"90","author":"Suzuki","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0035","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1007\/978-1-4614-3209-8_66","article-title":"CEP290 and the primary cilium","volume":"801","author":"Drivas","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.braindev.2017.11.002_b0040","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C","article-title":"Cerebello-oculo-renal syndromes including Arima, Senior-L\u00f6ken and COACH syndromes: more than just variants of Joubert syndrome","volume":"86","author":"Satran","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0045","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/0002-9394(69)93443-6","article-title":"Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain","volume":"68","author":"Dekaban","year":"1969","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.braindev.2017.11.002_b0050","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1177\/088307388600100404","article-title":"Cerebro-oculo-hepato-renal syndrome (Arima\u2019s syndrome): a distinct clinocopathological entity","volume":"1","author":"Matsuzaka","year":"1986","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2017.11.002_b0055","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/jhg.2012.117","article-title":"The diagnostic utility of exome sequencing in Joubert syndrome and related disorders","volume":"58","author":"Tsurusaki","year":"2013","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0060","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.jmoldx.2014.09.003","article-title":"Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity","volume":"17","author":"Seong","year":"2015","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.braindev.2017.11.002_b0065","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/hmg\/ddl107","article-title":"In-frame deletion in a novel centrosomal\/ciliary protein CEP290\/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse","volume":"15","author":"Chang","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0070","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.braindev.2017.11.002_b0075","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.exer.2010.05.009","article-title":"Focus on molecules: centrosomal protein 290 (CEP290)","volume":"92","author":"Moradi","year":"2011","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.braindev.2017.11.002_b0080","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1177\/0883073814535488","article-title":"Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome","volume":"30","author":"Wang","year":"2015","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2017.11.002_b0085","doi-asserted-by":"crossref","first-page":"3655","DOI":"10.1093\/hmg\/ddn260","article-title":"Genetic and physical interaction between the NPHP5 and NPHP6 gene products","volume":"17","author":"Sch\u00e4fer","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0090","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/humu.9485","article-title":"Spectrum of NPHP6\/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype","volume":"28","author":"Perrault","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2017.11.002_b0095","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/humu.21337","article-title":"CEP290, a gene with many faces: mutation overview and presentation of CEP290base","volume":"31","author":"Coppieters","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2017.11.002_b0100","doi-asserted-by":"crossref","first-page":"3796","DOI":"10.1093\/hmg\/ddn277","article-title":"CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium","volume":"17","author":"Kim","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0105","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.devcel.2008.07.004","article-title":"CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease","volume":"15","author":"Tsang","year":"2008","journal-title":"Dev Cell"},{"key":"10.1016\/j.braindev.2017.11.002_b0110","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.braindev.2017.11.002_b0115","doi-asserted-by":"crossref","first-page":"3775","DOI":"10.1093\/hmg\/ddv123","article-title":"CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies","volume":"24","author":"Rachel","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0120","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddx347","article-title":"A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies","author":"Srivastava","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.11.002_b0125","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0070-2153(08)00605-4","article-title":"Modeling ciliopathies: primary cilia in development and disease","volume":"84","author":"Quinlan","year":"2008","journal-title":"Curr Top Dev Biol"},{"key":"10.1016\/j.braindev.2017.11.002_b0130","doi-asserted-by":"crossref","first-page":"R526","DOI":"10.1016\/j.cub.2009.05.025","article-title":"The primary cilium as a complex signaling center","volume":"19","author":"Berbari","year":"2009","journal-title":"Curr Biol"},{"key":"10.1016\/j.braindev.2017.11.002_b0135","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/j.1600-0854.2009.01016.x","article-title":"Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium","volume":"11","author":"Narita","year":"2010","journal-title":"Traffic"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760417302747?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760417302747?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,25]],"date-time":"2018-08-25T11:59:28Z","timestamp":1535198368000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760417302747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S0387760417302747"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2017.11.002","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2017.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}