{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:31:14Z","timestamp":1770823874655,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2007,6,10]],"date-time":"2007-06-10T00:00:00Z","timestamp":1181433600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2007,7]]},"DOI":"10.1038\/ng2069","type":"journal-article","created":{"date-parts":[[2007,6,10]],"date-time":"2007-06-10T17:23:57Z","timestamp":1181496237000},"page":"882-888","source":"Crossref","is-referenced-by-count":272,"title":["Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome"],"prefix":"10.1038","volume":"39","author":[{"given":"Heleen H","family":"Arts","sequence":"first","affiliation":[]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[]},{"given":"Sylvia E C","family":"van Beersum","sequence":"additional","affiliation":[]},{"given":"Melissa A","family":"Parisi","sequence":"additional","affiliation":[]},{"given":"Stef J F","family":"Letteboer","sequence":"additional","affiliation":[]},{"given":"Nicholas T","family":"Gorden","sequence":"additional","affiliation":[]},{"given":"Theo A","family":"Peters","sequence":"additional","affiliation":[]},{"given":"Tina","family":"M\u00e4rker","sequence":"additional","affiliation":[]},{"given":"Krysta","family":"Voesenek","sequence":"additional","affiliation":[]},{"given":"Aileen","family":"Kartono","sequence":"additional","affiliation":[]},{"given":"Hamit","family":"Ozyurek","sequence":"additional","affiliation":[]},{"given":"Federico M","family":"Farin","sequence":"additional","affiliation":[]},{"given":"Hester Y","family":"Kroes","sequence":"additional","affiliation":[]},{"given":"Uwe","family":"Wolfrum","sequence":"additional","affiliation":[]},{"given":"Han G","family":"Brunner","sequence":"additional","affiliation":[]},{"given":"Frans P M","family":"Cremers","sequence":"additional","affiliation":[]},{"given":"Ian A","family":"Glass","sequence":"additional","affiliation":[]},{"given":"Nine V A M","family":"Knoers","sequence":"additional","affiliation":[]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2007,6,10]]},"reference":[{"key":"BFng2069_CR1","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1038\/ng996","volume":"32","author":"G Mollet","year":"2002","unstructured":"Mollet, G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32, 300\u2013305 (2002).","journal-title":"Nat. Genet."},{"key":"BFng2069_CR2","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1038\/ng1520","volume":"37","author":"EA Otto","year":"2005","unstructured":"Otto, E.A. et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet. 37, 282\u2013288 (2005).","journal-title":"Nat. Genet."},{"key":"BFng2069_CR3","doi-asserted-by":"publisher","first-page":"18520","DOI":"10.1073\/pnas.0505774102","volume":"102","author":"R Roepman","year":"2005","unstructured":"Roepman, R. et al. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl. Acad. Sci. USA 102, 18520\u201318525 (2005).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng2069_CR4","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1038\/ng1786","volume":"38","author":"JA Sayer","year":"2006","unstructured":"Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674\u2013681 (2006).","journal-title":"Nat. Genet."},{"key":"BFng2069_CR5","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1086\/421846","volume":"75","author":"MA Parisi","year":"2004","unstructured":"Parisi, M.A. et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75, 82\u201391 (2004).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2069_CR6","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1086\/507318","volume":"79","author":"AI den Hollander","year":"2006","unstructured":"den Hollander, A.I. et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79, 556\u2013561 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2069_CR7","doi-asserted-by":"publisher","first-page":"2095","DOI":"10.1093\/hmg\/9.14.2095","volume":"9","author":"R Roepman","year":"2000","unstructured":"Roepman, R. et al. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum. Mol. Genet. 9, 2095\u20132105 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2069_CR8","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1086\/320113","volume":"68","author":"TP Dryja","year":"2001","unstructured":"Dryja, T.P. et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am. J. Hum. Genet. 68, 1295\u20131298 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2069_CR9","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C","volume":"86","author":"D Satran","year":"1999","unstructured":"Satran, D., Pierpont, M.E. & Dobyns, W.B. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Am. J. Med. Genet. 86, 459\u2013469 (1999).","journal-title":"Am. J. Med. Genet."},{"key":"BFng2069_CR10","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1038\/sj.ejhg.5201648","volume":"15","author":"MA Parisi","year":"2007","unstructured":"Parisi, M.A., Doherty, D., Chance, P.F. & Glass, I.A. Joubert syndrome (and related disorders) (OMIM 213300). Eur. J. Hum. Genet. 15, 511\u2013521 (2007).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFng2069_CR11","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1177\/088307389901400605","volume":"14","author":"BL Maria","year":"1999","unstructured":"Maria, B.L. et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J. Child Neurol. 14, 368\u2013376 (1999).","journal-title":"J. Child Neurol."},{"key":"BFng2069_CR12","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T","volume":"72","author":"JE Pellegrino","year":"1997","unstructured":"Pellegrino, J.E., Lensch, M.W., Muenke, M. & Chance, P.F. Clinical and molecular analysis in Joubert syndrome. Am. J. Med. Genet. 72, 59\u201362 (1997).","journal-title":"Am. J. Med. Genet."},{"key":"BFng2069_CR13","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/ng1419","volume":"36","author":"RJ Ferland","year":"2004","unstructured":"Ferland, R.J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008\u20131013 (2004).","journal-title":"Nat. Genet."},{"key":"BFng2069_CR14","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1086\/510499","volume":"80","author":"L Baala","year":"2007","unstructured":"Baala, L. et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am. J. Hum. Genet. 80, 186\u2013194 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2069_CR15","doi-asserted-by":"publisher","first-page":"2424","DOI":"10.1681\/ASN.2005121351","volume":"17","author":"M Fliegauf","year":"2006","unstructured":"Fliegauf, M. et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J. Am. Soc. Nephrol. 17, 2424\u20132433 (2006).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFng2069_CR16","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1038\/ng1805","volume":"38","author":"EM Valente","year":"2006","unstructured":"Valente, E.M. et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623\u2013625 (2006).","journal-title":"Nat. Genet."},{"key":"BFng2069_CR17","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1093\/hmg\/ddl459","volume":"16","author":"HR Dawe","year":"2007","unstructured":"Dawe, H.R. et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173\u2013186 (2007).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2069_CR18","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1093\/hmg\/ddl107","volume":"15","author":"B Chang","year":"2006","unstructured":"Chang, B. et al. 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. Hum. Mol. Genet. 15, 1847\u20131857 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2069_CR19","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1086\/344395","volume":"71","author":"E Otto","year":"2002","unstructured":"Otto, E. et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am. J. Hum. Genet. 71, 1161\u20131167 (2002).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2069_CR20","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/cm.970320107","volume":"32","author":"U Wolfrum","year":"1995","unstructured":"Wolfrum, U. Centrin in the photoreceptor cells of mammalian retinae. Cell Motil. Cytoskeleton 32, 55\u201364 (1995).","journal-title":"Cell Motil. Cytoskeleton"},{"key":"BFng2069_CR21","doi-asserted-by":"publisher","first-page":"42202","DOI":"10.1074\/jbc.M407928200","volume":"279","author":"A Rattner","year":"2004","unstructured":"Rattner, A., Chen, J. & Nathans, J. Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly. J. Biol. Chem. 279, 42202\u201342210 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFng2069_CR22","doi-asserted-by":"publisher","first-page":"5329","DOI":"10.1242\/dev.02153","volume":"132","author":"B Banizs","year":"2005","unstructured":"Banizs, B. et al. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Development 132, 5329\u20135339 (2005).","journal-title":"Development"},{"key":"BFng2069_CR23","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1083\/jcb.29.2.333","volume":"29","author":"PF Doolin","year":"1966","unstructured":"Doolin, P.F. & Birge, W.J. Ultrastructural organization of cilia and basal bodies of the epithelium of the choroid plexus in the chick embryo. J. Cell Biol. 29, 333\u2013345 (1966).","journal-title":"J. Cell Biol."},{"key":"BFng2069_CR24","doi-asserted-by":"publisher","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"V Ramensky","year":"2002","unstructured":"Ramensky, V., Bork, P. & Sunyaev, S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30, 3894\u20133900 (2002).","journal-title":"Nucleic Acids Res."},{"key":"BFng2069_CR25","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"PC Ng","year":"2001","unstructured":"Ng, P.C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863\u2013874 (2001).","journal-title":"Genome Res."},{"key":"BFng2069_CR26","doi-asserted-by":"publisher","first-page":"2192","DOI":"10.1167\/iovs.04-1417","volume":"46","author":"A Kantardzhieva","year":"2005","unstructured":"Kantardzhieva, A. et al. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Invest. Ophthalmol. Vis. Sci. 46, 2192\u20132201 (2005).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFng2069_CR27","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1016\/S0076-6879(00)16757-6","volume":"316","author":"R Roepman","year":"2000","unstructured":"Roepman, R., Schick, D. & Ferreira, P.A. Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast. Methods Enzymol. 316, 688\u2013704 (2000).","journal-title":"Methods Enzymol."},{"key":"BFng2069_CR28","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/hmg\/ddi490","volume":"15","author":"E van Wijk","year":"2006","unstructured":"van Wijk, E. et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet. 15, 751\u2013765 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2069_CR29","doi-asserted-by":"publisher","first-page":"4749","DOI":"10.1523\/JNEUROSCI.16-15-04749.1996","volume":"16","author":"JH Brandstatter","year":"1996","unstructured":"Brandstatter, J.H., Koulen, P., Kuhn, R., van der, P.H. & Wassle, H. Compartmental localization of a metabotropic glutamate receptor (mGluR7): two different active sites at a retinal synapse. J. Neurosci. 16, 4749\u20134756 (1996).","journal-title":"J. Neurosci."},{"key":"BFng2069_CR30","doi-asserted-by":"crossref","first-page":"3013","DOI":"10.1242\/jcs.113.17.3013","volume":"113","author":"MM Mogensen","year":"2000","unstructured":"Mogensen, M.M., Malik, A., Piel, M., Bouckson-Castaing, V. & Bornens, M. Microtubule minus-end anchorage at centrosomal and non-centrosomal sites: the role of ninein. J. Cell Sci. 113, 3013\u20133023 (2000).","journal-title":"J. Cell Sci."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng2069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng2069","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng2069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:14:30Z","timestamp":1684448070000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng2069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,10]]},"references-count":30,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["BFng2069"],"URL":"https:\/\/doi.org\/10.1038\/ng2069","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,10]]}}}