{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:08:17Z","timestamp":1793261297834,"version":"4.5.0"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,8]]},"DOI":"10.1681\/asn.2013060646","type":"journal-article","created":{"date-parts":[[2014,3,7]],"date-time":"2014-03-07T23:36:50Z","timestamp":1394235410000},"page":"1653-1661","source":"Crossref","is-referenced-by-count":47,"title":["Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD"],"prefix":"10.1681","volume":"25","author":[{"given":"Ekim Z.","family":"Taskiran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Korkmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safak","family":"Gucer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Kosukcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Figen","family":"Kaymaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cansu","family":"Koyunlar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Bryda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moumita","family":"Chaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Komal","family":"Vadnagara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cengiz","family":"Candan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rezan","family":"Topaloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Attanasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Ozaltin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-10-20230208","doi-asserted-by":"crossref","first-page":"iii146","DOI":"10.1093\/ndt\/gfs366","article-title":"Chronic renal disease in children aged 5-18 years: A population-based survey in Turkey, the CREDIT-C study.","volume":"27","author":"S\u00f6ylemezo\u011flu","year":"2012","journal-title":"Nephrol Dial Transplant"},{"key":"R2-10-20230208","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1007\/BF00856534","article-title":"Chronic renal failure in children: An epidemiological survey in Lorraine (France) 1975-1990.","volume":"8","author":"Deleau","year":"1994","journal-title":"Pediatr Nephrol"},{"key":"R3-10-20230208","doi-asserted-by":"crossref","first-page":"e382","DOI":"10.1542\/peds.111.4.e382","article-title":"Epidemiology of chronic renal failure in children: Data from the ItalKid project.","volume":"111","author":"Ardissino","year":"2003","journal-title":"Pediatrics"},{"key":"R4-10-20230208","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":"R5-10-20230208","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1097\/MNH.0b013e3283520f17","article-title":"Clinical spectrum and pathogenesis of nephronophthisis.","volume":"21","author":"Benzing","year":"2012","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"R6-10-20230208","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.","volume":"17","author":"Hildebrandt","year":"1997","journal-title":"Nat Genet"},{"key":"R7-10-20230208","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":"R8-10-20230208","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1216","article-title":"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.","volume":"34","author":"Olbrich","year":"2003","journal-title":"Nat Genet"},{"key":"R9-10-20230208","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1086\/344395","article-title":"A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.","volume":"71","author":"Otto","year":"2002","journal-title":"Am J Hum Genet"},{"key":"R10-10-20230208","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng996","article-title":"The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.","volume":"32","author":"Mollet","year":"2002","journal-title":"Nat Genet"},{"key":"R11-10-20230208","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"},{"key":"R12-10-20230208","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":"R13-10-20230208","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":"R14-10-20230208","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng2072","article-title":"Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.","volume":"39","author":"Attanasio","year":"2007","journal-title":"Nat Genet"},{"key":"R15-10-20230208","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":"R16-10-20230208","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 Am Soc Nephrol"},{"key":"R17-10-20230208","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/ng.662","article-title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.","volume":"42","author":"Otto","year":"2010","journal-title":"Nat Genet"},{"key":"R18-10-20230208","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1038\/ng.2681","article-title":"ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.","volume":"45","author":"Hoff","year":"2013","journal-title":"Nat Genet"},{"key":"R19-10-20230208","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1681\/ASN.2012101034","article-title":"Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.","volume":"24","author":"Hurd","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"R20-10-20230208","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1159\/000320888","article-title":"Mechanisms of nephronophthisis and related ciliopathies.","volume":"118","author":"Hurd","year":"2011","journal-title":"Nephron, Exp Nephrol"},{"key":"R21-10-20230208","doi-asserted-by":"crossref","first-page":"3000","DOI":"10.2353\/ajpath.2010.100569","article-title":"Transgenic overexpression of Anks6(p.R823W) causes polycystic kidney disease in rats.","volume":"177","author":"Neudecker","year":"2010","journal-title":"Am J Pathol"},{"key":"R22-10-20230208","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.bbrc.2009.03.113","article-title":"The polycystic kidney disease-related proteins Bicc1 and SamCystin interact.","volume":"383","author":"Stagner","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"R23-10-20230208","doi-asserted-by":"crossref","first-page":"3517","DOI":"10.1681\/ASN.2005060601","article-title":"Missense mutation in sterile \u03b1 motif of novel protein SamCystin is associated with polycystic kidney disease in (cy\/+) rat.","volume":"16","author":"Brown","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"R24-10-20230208","doi-asserted-by":"crossref","first-page":"4947","DOI":"10.1074\/jbc.274.8.4947","article-title":"The polycystic kidney disease 1 gene product modulates Wnt signaling.","volume":"274","author":"Kim","year":"1999","journal-title":"J Biol Chem"},{"key":"R25-10-20230208","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/cbf.1417","article-title":"PKD1 inhibits cancer cells migration and invasion via Wnt signaling pathway in vitro.","volume":"25","author":"Zhang","year":"2007","journal-title":"Cell Biochem Funct"},{"key":"R26-10-20230208","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.cellbi.2007.12.014","article-title":"Polycystin-1 induced apoptosis and cell cycle arrest in G0\/G1 phase in cancer cells.","volume":"32","author":"Zheng","year":"2008","journal-title":"Cell Biol Int"},{"key":"R27-10-20230208","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.molmed.2010.05.004","article-title":"Cystic kidney disease: The role of Wnt signaling.","volume":"16","author":"Lancaster","year":"2010","journal-title":"Trends Mol Med"},{"key":"R28-10-20230208","doi-asserted-by":"crossref","first-page":"5972","DOI":"10.1038\/sj.onc.1204825","article-title":"Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene.","volume":"20","author":"Saadi-Kheddouci","year":"2001","journal-title":"Oncogene"},{"key":"R29-10-20230208","doi-asserted-by":"crossref","first-page":"3019","DOI":"10.1242\/dev.038174","article-title":"Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow.","volume":"136","author":"Maisonneuve","year":"2009","journal-title":"Development"},{"key":"R30-10-20230208","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/humu.21610","article-title":"Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.","volume":"33","author":"Kraus","year":"2012","journal-title":"Hum Mutat"},{"key":"R31-10-20230208","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/ng1552","article-title":"Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.","volume":"37","author":"Simons","year":"2005","journal-title":"Nat Genet"},{"key":"R32-10-20230208","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":"R33-10-20230208","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1681\/ASN.2012050490","article-title":"Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.","volume":"24","author":"Manning","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"R34-10-20230208","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.ajhg.2008.02.017","article-title":"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.","volume":"82","author":"Bergmann","year":"2008","journal-title":"Am J Hum Genet"},{"key":"R35-10-20230208","first-page":"735A","article-title":"A recurrent homozygous missense mutation in TTC21B encoding the cilia protein IFT139 unexpectedly causes nephrotic syndrome\/FSGS [Abstract]","volume":"23","author":"Woerner","year":"2012","journal-title":"J Am Soc Nephrol"},{"key":"R36-10-20230208","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"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201408000-00010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:23:56Z","timestamp":1786130636000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201408000-00010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2013060646","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2014,8]]}}}