{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:08:19Z","timestamp":1793261299934,"version":"4.5.0"},"reference-count":80,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2008,7,8]],"date-time":"2008-07-08T00:00:00Z","timestamp":1215475200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2008,7,8]],"date-time":"2008-07-08T00:00:00Z","timestamp":1215475200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5\u00a0years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5\u00a0years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-L\u00f8ken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (\n                    <jats:italic>NPHP1, 3, 4, 5, 6, 7, 8,<\/jats:italic>\n                    and\n                    <jats:italic>9<\/jats:italic>\n                    ) responsible for the juvenile NPH and one gene\n                    <jats:italic>NPHP2<\/jats:italic>\n                    for the infantile form. NPH and associated disorders are considered as ciliopathies, as all\n                    <jats:italic>NPHP<\/jats:italic>\n                    gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.\n                  <\/jats:p>","DOI":"10.1007\/s00467-008-0840-z","type":"journal-article","created":{"date-parts":[[2008,7,7]],"date-time":"2008-07-07T07:15:43Z","timestamp":1215414943000},"page":"2333-2344","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":171,"title":["Nephronophthisis"],"prefix":"10.1007","volume":"24","author":[{"given":"R\u00e9mi","family":"Salomon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Niaudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,7,8]]},"reference":[{"key":"840_CR1","first-page":"1","volume":"6","author":"G Fanconi","year":"1951","unstructured":"Fanconi G, Hanhart E, von Albertini A, Uhlinger E, Dolivo G, Prader A (1951) Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney). Helv Paediatr Acta 6:1\u201349","journal-title":"Helv Paediatr Acta"},{"key":"840_CR2","first-page":"369","volume":"69","author":"C Smith","year":"1945","unstructured":"Smith C, Graham J (1945) Congenital medullary cysts with severe refractory anemia. Am J Dis Child 69:369\u2013377","journal-title":"Am J Dis Child"},{"key":"840_CR3","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.gde.2005.04.012","volume":"15","author":"S Saunier","year":"2005","unstructured":"Saunier S, Salomon R, Antignac C (2005) Nephronophthisis. Curr Opin Genet Dev 15:324\u2013331","journal-title":"Curr Opin Genet Dev"},{"key":"840_CR4","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0272-6386(00)70300-3","volume":"35","author":"G Caridi","year":"2000","unstructured":"Caridi G, Dagnino M, Gusmano R, Ginevri F, Murer L, Ghio L, Piaggio G, Ciardi MR, Perfumo F, Ghiggeri GM (2000) Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. Am J Kidney Dis 35:44\u201351","journal-title":"Am J Kidney Dis"},{"key":"840_CR5","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1007\/BF00180751","volume":"70","author":"F Hildebrandt","year":"1992","unstructured":"Hildebrandt F, Waldherr R, Kutt R, Brandis M (1992) The nephronophthisis complex: clinical and genetic aspects. Clin Investig 70:802\u2013808","journal-title":"Clin Investig"},{"key":"840_CR6","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00430668","volume":"394","author":"R Waldherr","year":"1982","unstructured":"Waldherr R, Lennert T, Weber HP, Fodisch HJ, Scharer K (1982) The nephronophthisis complex. A clinicopathologic study in children. Virchows Arch A Pathol Anat Histol 394:235\u2013225","journal-title":"Virchows Arch A Pathol Anat Histol"},{"key":"840_CR7","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1111\/j.1523-1755.2002.kid581.x","volume":"62","author":"C Stavrou","year":"2002","unstructured":"Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC (2002) Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 62:1385\u20131394","journal-title":"Kidney Int"},{"key":"840_CR8","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.2006121344","volume":"18","author":"F Hildebrandt","year":"2007","unstructured":"Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18:1855\u20131871","journal-title":"J Am Soc Nephrol"},{"key":"840_CR9","first-page":"272","volume":"23","author":"K Pistor","year":"1985","unstructured":"Pistor K, Olbing H, Scharer K (1985) Children with chronic renal failure in the Federal Republic of Germany: I. Epidemiology, modes of treatment, survival. Arbeitsgemeinschaft fur P\u00e4diatrische Nephrologie. Clin Nephrol 23:272\u2013277","journal-title":"Clin Nephrol"},{"key":"840_CR10","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ki.1980.115","volume":"18","author":"DE Potter","year":"1980","unstructured":"Potter DE, Holliday MA, Piel CF, Feduska NJ, Belzer FO, Salvatierra O Jr (1980) Treatment of end-stage renal disease in children: a 15-year experience. Kidney Int 18:103\u2013109","journal-title":"Kidney Int"},{"key":"840_CR11","first-page":"224","volume":"11","author":"R Gusmano","year":"1998","unstructured":"Gusmano R, Ghiggeri GM, Caridi G (1998) Nephronophthisis-medullary cystic disease: clinical and genetic aspects. J Nephrol 11:224\u2013228","journal-title":"J Nephrol"},{"key":"840_CR12","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1093\/ndt\/gfl348","volume":"21","author":"G Bollee","year":"2006","unstructured":"Bollee G, Fakhouri F, Karras A, Noel LH, Salomon R, Servais A, Lesavre P, Moriniere V, Antignac C, Hummel A (2006) Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant 21:2660\u20132663","journal-title":"Nephrol Dial Transplant"},{"key":"840_CR13","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/ki.1997.31","volume":"51","author":"F Hildebrandt","year":"1997","unstructured":"Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M (1997) Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fur P\u00e4diatrische Nephrologie. Kidney Int 51:261\u2013269","journal-title":"Kidney Int"},{"key":"840_CR14","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1093\/ndt\/12.3.625","volume":"12","author":"A Aguilera","year":"1997","unstructured":"Aguilera A, Rivera M, Gallego N, Nogueira J, Ortuno J (1997) Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex. Nephrol Dial Transplant 12:625\u2013626","journal-title":"Nephrol Dial Transplant"},{"key":"840_CR15","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/BF00863431","volume":"10","author":"DL Blowey","year":"1996","unstructured":"Blowey DL, Querfeld U, Geary D, Warady BA, Alon U (1996) Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 10:22\u201324","journal-title":"Pediatr Nephrol"},{"key":"840_CR16","first-page":"509","volume":"35","author":"HU Zollinger","year":"1980","unstructured":"Zollinger HU, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta 35:509\u2013530","journal-title":"Helv Paediatr Acta"},{"key":"840_CR17","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1216","volume":"34","author":"H Olbrich","year":"2003","unstructured":"Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 34:455\u2013459","journal-title":"Nat Genet"},{"key":"840_CR18","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/BF00859626","volume":"3","author":"MF Gagnadoux","year":"1989","unstructured":"Gagnadoux MF, Bacri JL, Broyer M, Habib R (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 3:50\u201355","journal-title":"Pediatr Nephrol"},{"key":"840_CR19","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1651-2227.1961.tb08037.x","volume":"50","author":"AC L\u00f8ken","year":"1961","unstructured":"L\u00f8ken AC, Hanssen O, Halvorsen S, Jolster NJ (1961) Hereditary renal dysplasia and blindness. Acta Paediatr 50:177\u2013184","journal-title":"Acta Paediatr"},{"key":"840_CR20","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/0002-9394(61)90147-7","volume":"52","author":"B Senior","year":"1961","unstructured":"Senior B, Friedmann AI, Braudo JL (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 52:625\u2013633","journal-title":"Am J Ophthalmol"},{"key":"840_CR21","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1053\/ajkd.2000.19845","volume":"36","author":"B Georges","year":"2000","unstructured":"Georges B, Cosyns JP, Dahan K, Snyers B, Carlier B, Loute G, Pirson Y (2000) Late-onset renal failure in Senior-Loken syndrome. Am J Kidney Dis 36:1271\u20131275","journal-title":"Am J Kidney Dis"},{"key":"840_CR22","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1007\/s00467-007-0435-0","volume":"22","author":"JL Tobin","year":"2007","unstructured":"Tobin JL, Beales PL (2007) Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 22:926\u2013936","journal-title":"Pediatr Nephrol"},{"key":"840_CR23","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1002\/humu.20577","volume":"28","author":"JD Marshall","year":"2007","unstructured":"Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (2007) Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 28:1114\u20131123","journal-title":"Hum Mutat"},{"key":"840_CR24","doi-asserted-by":"crossref","first-page":"4413","DOI":"10.1073\/pnas.0610950104","volume":"104","author":"X Liu","year":"2007","unstructured":"Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci USA 104:4413\u20134418","journal-title":"Proc Natl Acad Sci USA"},{"key":"840_CR25","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng1520","volume":"37","author":"EA Otto","year":"2005","unstructured":"Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O\u2019Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 37:282\u2013288","journal-title":"Nat Genet"},{"key":"840_CR26","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","volume":"75","author":"T Dixon-Salazar","year":"2004","unstructured":"Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979\u2013987","journal-title":"Am J Hum Genet"},{"key":"840_CR27","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.2003.014787","volume":"41","author":"C Lagier-Tourenne","year":"2004","unstructured":"Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23. J Med Genet 41:273\u2013277","journal-title":"J Med Genet"},{"key":"840_CR28","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s00467-005-2054-y","volume":"21","author":"B Utsch","year":"2006","unstructured":"Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 21:32\u201335","journal-title":"Pediatr Nephrol"},{"key":"840_CR29","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1038\/sj.ki.5001768","volume":"70","author":"G Caridi","year":"2006","unstructured":"Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri GM (2006) Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int 70:1342\u20131347","journal-title":"Kidney Int"},{"key":"840_CR30","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","volume":"75","author":"MA Parisi","year":"2004","unstructured":"Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA (2004) 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","journal-title":"Am J Hum Genet"},{"key":"840_CR31","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","volume":"38","author":"JA Sayer","year":"2006","unstructured":"Sayer JA, Otto EA, O\u2019Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 38:674\u2013681","journal-title":"Nat Genet"},{"key":"840_CR32","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","volume":"38","author":"EM Valente","year":"2006","unstructured":"Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Bertini E, Dallapiccola B, Gleeson JG (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 38:623\u2013625","journal-title":"Nat Genet"},{"key":"840_CR33","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","volume":"39","author":"HH Arts","year":"2007","unstructured":"Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 39:882\u2013888","journal-title":"Nat Genet"},{"key":"840_CR34","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","volume":"39","author":"M Delous","year":"2007","unstructured":"Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 39:875\u2013881","journal-title":"Nat Genet"},{"key":"840_CR35","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1681\/ASN.2006101164","volume":"18","author":"K Tory","year":"2007","unstructured":"Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S (2007) High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol 18:1566\u20131575","journal-title":"J Am Soc Nephrol"},{"key":"840_CR36","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1086\/510499","volume":"80","author":"L Baala","year":"2007","unstructured":"Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186\u2013194","journal-title":"Am J Hum Genet"},{"key":"840_CR37","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1086\/519494","volume":"81","author":"L Baala","year":"2007","unstructured":"Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrere AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Genin E, Johnson CA, Vekemans M, Encha-Razavi F, Attie-Bitach T (2007) Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 81:170\u2013179","journal-title":"Am J Hum Genet"},{"key":"840_CR38","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/S0002-9343(70)80051-1","volume":"49","author":"F Mainzer","year":"1970","unstructured":"Mainzer F, Saldino RM, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49:556\u2013562","journal-title":"Am J Med"},{"key":"840_CR39","first-page":"221","volume":"42","author":"H Boichis","year":"1973","unstructured":"Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. Q J Med 42:221\u2013233","journal-title":"Q J Med"},{"key":"840_CR40","first-page":"281","volume":"47","author":"V Delaney","year":"1978","unstructured":"Delaney V, Mullaney J, Bourke E (1978) Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med 47:281\u2013290","journal-title":"Q J Med"},{"key":"840_CR41","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/S0046-8177(82)80295-5","volume":"13","author":"CL Witzleben","year":"1982","unstructured":"Witzleben CL, Sharp AR (1982) \u201cNephronophthisis-congenital hepatic fibrosis\u201d: an additional hepatorenal disorder. Hum Pathol 13:728\u2013733","journal-title":"Hum Pathol"},{"key":"840_CR42","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","volume":"34","author":"EA Otto","year":"2003","unstructured":"Otto EA, Schermer B, Obara T, O\u2019Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34:413\u2013420","journal-title":"Nat Genet"},{"key":"840_CR43","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/adc.60.5.426","volume":"60","author":"MD Donaldson","year":"1985","unstructured":"Donaldson MD, Warner AA, Trompeter RS, Haycock GB, Chantler C (1985) Familial juvenile nephronophthisis, Jeune\u2019s syndrome, and associated disorders. Arch Dis Child 60:426\u2013434","journal-title":"Arch Dis Child"},{"key":"840_CR44","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s004670050395","volume":"12","author":"A Moudgil","year":"1998","unstructured":"Moudgil A, Bagga A, Kamil ES, Rimoin DL, Lachman RS, Cohen AH, Jordan SC (1998) Nephronophthisis associated with Ellis-van Creveld syndrome. Pediatr Nephrol 12:20\u201322","journal-title":"Pediatr Nephrol"},{"key":"840_CR45","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y","volume":"73","author":"M Di Rocco","year":"1997","unstructured":"Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C (1997) Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? Am J Med Genet 73:1\u20134","journal-title":"Am J Med Genet"},{"key":"840_CR46","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1001\/archinte.165.6.675","volume":"165","author":"JD Marshall","year":"2005","unstructured":"Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM (2005) New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165:675\u2013683","journal-title":"Arch Intern Med"},{"key":"840_CR47","first-page":"158","volume":"23","author":"C Costet","year":"2000","unstructured":"Costet C, Betis F, Berard E, Tsimaratos M, Sigaudy S, Antignac C, Gastaud P (2000) Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report. J Fr Ophtalmol 23:158\u2013160","journal-title":"J Fr Ophtalmol"},{"key":"840_CR48","first-page":"785","volume":"11","author":"M Tsimaratos","year":"1997","unstructured":"Tsimaratos M, Berard E, Sigaudy S, Almahana T, Delarue A, Roquelaure B, Costet C, Antignac C, Gubler MC, Picon G, Philip N, Sarles J (1997) Chronic renal failure and cranioectodermal dysplasia: a further step. Pediatr Nephrol 11:785\u2013786","journal-title":"Pediatr Nephrol"},{"key":"840_CR49","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1177\/088307388600100404","volume":"1","author":"T Matsuzaka","year":"1986","unstructured":"Matsuzaka T, Sakuragawa N, Nakayama H, Sugai K, Kohno Y, Arima M (1986) Cerebro-oculo-hepato-renal syndrome (Arima\u2019 syndrome): a distinct clinicopathological entity. J Child Neurol 1:338\u2013346","journal-title":"J Child Neurol"},{"key":"840_CR50","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng0493-342","volume":"3","author":"C Antignac","year":"1993","unstructured":"Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, Weissenbach J, Habib R, Cohen D (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3:342\u2013345","journal-title":"Nat Genet"},{"key":"840_CR51","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/5.3.367","volume":"5","author":"M Konrad","year":"1996","unstructured":"Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (1996) Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5:367\u2013371","journal-title":"Hum Mol Genet"},{"key":"840_CR52","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","volume":"66","author":"S Saunier","year":"2000","unstructured":"Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (2000) Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet 66:778\u2013789","journal-title":"Am J Hum Genet"},{"key":"840_CR53","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","volume":"17","author":"F Hildebrandt","year":"1997","unstructured":"Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17:149\u2013153","journal-title":"Nat Genet"},{"key":"840_CR54","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1093\/hmg\/6.13.2317","volume":"6","author":"S Saunier","year":"1997","unstructured":"Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6:2317\u20132323","journal-title":"Hum Mol Genet"},{"key":"840_CR55","doi-asserted-by":"crossref","first-page":"29028","DOI":"10.1074\/jbc.M111697200","volume":"277","author":"JC Donaldson","year":"2002","unstructured":"Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002) Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem 277:29028\u201329035","journal-title":"J Biol Chem"},{"key":"840_CR56","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1093\/hmg\/ddi061","volume":"14","author":"G Mollet","year":"2005","unstructured":"Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S (2005) Characterization of the nephrocystin\/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet 14:645\u2013656","journal-title":"Hum Mol Genet"},{"key":"840_CR57","first-page":"828","volume":"136","author":"R Betz","year":"2000","unstructured":"Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136:828\u2013831","journal-title":"J Pediatr"},{"key":"840_CR58","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.cellbi.2003.11.009","volume":"28","author":"L Eley","year":"2004","unstructured":"Eley L, Turnpenny L, Yates LM, Craighead AS, Morgan D, Whistler C, Goodship JA, Strachan T (2004) A perspective on inversin. Cell Biol Int 28:119\u2013124","journal-title":"Cell Biol Int"},{"key":"840_CR59","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1097\/01.ASN.0000128291.30249.D0","volume":"15","author":"J Nurnberger","year":"2004","unstructured":"Nurnberger J, Kribben A, Opazo Saez A, Heusch G, Philipp T, Phillips CL (2004) The Invs gene encodes a microtubule-associated protein. J Am Soc Nephrol 15:1700\u20131710","journal-title":"J Am Soc Nephrol"},{"key":"840_CR60","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s00441-005-0012-4","volume":"323","author":"J Nurnberger","year":"2006","unstructured":"Nurnberger J, Kavapurackal R, Zhang SJ, Opazo Saez A, Heusch G, Philipp T, Pietruck F, Kribben A (2006) Differential tissue distribution of the Invs gene product inversin. Cell Tissue Res 323:147\u2013155","journal-title":"Cell Tissue Res"},{"key":"840_CR61","doi-asserted-by":"crossref","first-page":"3345","DOI":"10.1093\/hmg\/11.26.3345","volume":"11","author":"D Morgan","year":"2002","unstructured":"Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA (2002) Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Hum Mol Genet 11:3345\u20133350","journal-title":"Hum Mol Genet"},{"key":"840_CR62","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1086\/302705","volume":"66","author":"H Omran","year":"2000","unstructured":"Omran H, Fernandez C, Jung M, Haffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Ruschendorf F, Reis A, Hildebrandt F (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am J Hum Genet 66:118\u2013127","journal-title":"Am J Hum Genet"},{"key":"840_CR63","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/humu.20669","volume":"29","author":"EA Otto","year":"2000","unstructured":"Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 29:418\u2013426","journal-title":"Hum Mutat"},{"key":"840_CR64","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.ajhg.2008.02.017","volume":"82","author":"C Bergmann","year":"2008","unstructured":"Bergmann C, Fliegauf M, Br\u00fcchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kr\u00e4nzlin B, N\u00fcrnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, N\u00fcrnberg P, Gretz N, Lo C, Lienkamp S, Sch\u00e4fer T, Walz G, Benzing T, Zerres K, Omran H (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 82:959-970","journal-title":"Am J Hum Genet"},{"key":"840_CR65","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1038\/nm935","volume":"9","author":"VH Gattone 2nd","year":"2003","unstructured":"Gattone VH 2nd, Wang X, Harris PC, Torres VE (2003) Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med 9:1323\u20131326","journal-title":"Nat Med"},{"key":"840_CR66","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng996","volume":"32","author":"G Mollet","year":"2002","unstructured":"Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S (2002) The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 32:300\u2013305","journal-title":"Nat Genet"},{"key":"840_CR67","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/humu.9326","volume":"25","author":"J Hoefele","year":"2005","unstructured":"Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O\u2019Toole JF, Otto E, Hildebrandt F (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat 25:411","journal-title":"Hum Mutat"},{"key":"840_CR68","doi-asserted-by":"crossref","first-page":"18520","DOI":"10.1073\/pnas.0505774102","volume":"102","author":"R Roepman","year":"2005","unstructured":"Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP (2005) Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc Natl Acad Sci USA 102:18520\u201318525","journal-title":"Proc Natl Acad Sci USA"},{"key":"840_CR69","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","volume":"79","author":"AI den Hollander","year":"2006","unstructured":"den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79:556\u2013561","journal-title":"Am J Hum Genet"},{"key":"840_CR70","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/humu.9485","volume":"28","author":"I Perrault","year":"2007","unstructured":"Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM (2007) Spectrum of NPHP6\/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 28:416","journal-title":"Hum Mutat"},{"key":"840_CR71","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmg.2007.052027","volume":"44","author":"J Helou","year":"2007","unstructured":"Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O\u2019Toole JF, Sayer JA, Hildebrandt F (2007) Mutation analysis of NPHP6\/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J Med Genet 44:657\u2013663","journal-title":"J Med Genet"},{"key":"840_CR72","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng2072","volume":"39","author":"M Attanasio","year":"2007","unstructured":"Attanasio M, Uhlenhaut NH, Sousa VH, O\u2019Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nurnberg G, Becker C, Chudley AE, Nurnberg P, Hildebrandt F, Treier M (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet 39:1018\u20131024","journal-title":"Nat Genet"},{"key":"840_CR73","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1242\/dev.003715","volume":"134","author":"J Vierkotten","year":"2007","unstructured":"Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U (2007) Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134:2569\u20132577","journal-title":"Development"},{"key":"840_CR74","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1038\/sj.ki.5002630","volume":"72","author":"MT Wolf","year":"2007","unstructured":"Wolf MT, Saunier S, O\u2019Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int 72:1520\u20131526","journal-title":"Kidney Int"},{"key":"840_CR75","doi-asserted-by":"crossref","first-page":"5839","DOI":"10.1242\/dev.00173","volume":"129","author":"S Liu","year":"2002","unstructured":"Liu S, Lu W, Obara T, Kuida S, Lehoczky J, Dewar K, Drummond IA, Beier DR (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development 129:5839\u20135846","journal-title":"Development"},{"key":"840_CR76","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1681\/ASN.2007040490","volume":"19","author":"EA Otto","year":"2008","unstructured":"Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F (2008) NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol 19:587\u2013592","journal-title":"J Am Soc Nephrol"},{"key":"840_CR77","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1681\/ASN.2007020243","volume":"18","author":"J Hoefele","year":"2007","unstructured":"Hoefele J, Wolf MT, O\u2019Toole JF, Otto EA, Schultheiss U, Deschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F (2007) Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 18:2789\u20132795","journal-title":"J Am Soc Nephrol"},{"key":"840_CR78","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ng1076","volume":"33","author":"SM Nauli","year":"2003","unstructured":"Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33:129\u2013137","journal-title":"Nat Genet"},{"key":"840_CR79","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1097\/01.ASN.0000140220.46477.5C","volume":"15","author":"L Romio","year":"2004","unstructured":"Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA (2004) OFD1 is a centrosomal\/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol 15:2556\u20132568","journal-title":"J Am Soc Nephrol"},{"key":"840_CR80","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","volume":"8","author":"M Fliegauf","year":"2007","unstructured":"Fliegauf M, Benzing T, Omran H (2007) When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Bio 8:880\u2013893","journal-title":"Nat Rev Mol Cell Bio"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0840-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-008-0840-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0840-z.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-008-0840-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T15:42:02Z","timestamp":1630424522000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-008-0840-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,8]]},"references-count":80,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["840"],"URL":"https:\/\/doi.org\/10.1007\/s00467-008-0840-z","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,8]]},"assertion":[{"value":"17 December 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 February 2008","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 February 2008","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2008","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}