Hildebrandt F, Otto E (2005) Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6:928–940
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F (2016) Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89:468–475
CAS PubMed PubMed Central Google Scholar
Fanconi G, Hanhart E, von Albertini A, Uhlinger E, Dolivo G, Prader A (1951) Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney). Helv Paediatr Acta 6:1–49
Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F (2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 80:1239–1245
CAS PubMed PubMed Central Google Scholar
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 29:418–426
Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA (2012) High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet 49:756–767
Ala-Mello S, Koskimies O, Rapola J, Kaariainen H (1999) Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. Eur J Hum Genet 7:205–211
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 18:103–109
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 394:235–254
Pistor K, Olbing H, Schärer K (1985) Children with chronic renal failure in the Federal Republic of Germany: I. Epidemiology, modes of treatment, survival. Arbeits- gemeinschaft für Pädiatrische Nephrologie. Clin Nephrol 23:272–277
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 Padiatrische Nephrologie. Kidney Int 51:261–269
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 66:118–127
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 21:2660–2663
Chung EM, Conran RM, Schroeder JW, Rohena-Quinquilla IR, Rooks VJ (2014) From the radiologic pathology archives: pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation. Radiographics 34:155–178
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 38:191–196
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C (2021) Diagnosis and management of renal cystic disease of the newborn: core curriculum 2021. Am J Kidney Dis 78:125–141
Blowey DL, Querfeld U, Geary D, Warady BA, Alon U (1996) Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 10:22–24
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 3:50–55
Braun DA, Hildebrandt F (2017) Ciliopathies. Cold Spring Harb Perspect Biol 9:a028191
PubMed PubMed Central Google Scholar
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 35:509–530
Cohen AH, Hoyer JR (1986) Nephronophthisis. A primary tubular basement membrane defect. Lab Invest 55:564–572
Larsen CP, Bonsib SM, Beggs ML, Wilson JD (2018) Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Hum Pathol 81:71–77
O’Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Karppa M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest 120:791–802
CAS PubMed PubMed Central Google Scholar
Hurd TW, Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, Yamada H, Halbritter J, Seki G, Konishi M, Zhou W, Yamane T, Murakami S, Caridi G, Ghiggeri G, Abe T, Hildebrandt F (2013) Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol 24:967–977
CAS PubMed PubMed Central Google Scholar
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschke P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mezard P, Sailer AW, Johansson S, Rodahl E, Saunier S, Hildebrandt F, Benmerah A (2017) Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. Am J Hum Genet 100:323–333
CAS PubMed PubMed Central Google Scholar
Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35
Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364:1533–1543
CAS PubMed PubMed Central Google Scholar
Loken AC, Hanssen O, Halvorsen S, Jolster NJ (1961) Hereditary renal dysplasia and blindness. Acta Paediatr 50:177–184
Bujakowska KM, Liu Q, Pierce EA (2017) Photoreceptor cilia and retinal ciliopathies. Cold Spring Harb Perspect Biol 9:a028274
PubMed PubMed Central Google Scholar
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 89:634–643
CAS PubMed PubMed Central Google Scholar
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O’Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533–548
CAS PubMed PubMed Central Google Scholar
Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H (2010) Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis 16:1373–1381
CAS PubMed PubMed Central Google Scholar
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermuller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nurnberg G, Nurnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 42:840–850
CAS PubMed PubMed Central Google Scholar
Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894–905
Sayer JA, Otto EA, O’Toole 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 38:674–681
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