Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

References

• Ishikawa H, Marshall WF. Ciliogenesis: building the cell’s antenna. Nat Rev Mol Cell Biol 2011; 12:222 - 34; http://dx.doi.org/10.1038/nrm3085; PMID: 21427764
   PubMed Web of Science ®Google Scholar
• Garcia-Gonzalo FR, Reiter JF. Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. J Cell Biol 2012; 197:697 - 709; http://dx.doi.org/10.1083/jcb.201111146; PMID: 22689651
   PubMed Web of Science ®Google Scholar
• Davenport JR, Yoder BK. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am J Physiol Renal Physiol 2005; 289:F1159 - 69; http://dx.doi.org/10.1152/ajprenal.00118.2005; PMID: 16275743
   PubMed Web of Science ®Google Scholar
• Dawe HR, Farr H, Gull K. Centriole/basal body morphogenesis and migration during ciliogenesis in animal cells. J Cell Sci 2007; 120:7 - 15; http://dx.doi.org/10.1242/jcs.03305; PMID: 17182899
   PubMed Web of Science ®Google Scholar
• Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol 2002; 3:813 - 25; http://dx.doi.org/10.1038/nrm952; PMID: 12415299
   PubMed Web of Science ®Google Scholar
• Bloodgood RA. Sensory reception is an attribute of both primary cilia and motile cilia. J Cell Sci 2010; 123:505 - 9; http://dx.doi.org/10.1242/jcs.066308; PMID: 20144998
   PubMed Web of Science ®Google Scholar
• Roy S. Cilia and Hedgehog: when and how was their marriage solemnized?. Differentiation 2012; 83:S43 - 8; http://dx.doi.org/10.1016/j.diff.2011.11.010; PMID: 22154138
   PubMedGoogle Scholar
• Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7:125 - 48; http://dx.doi.org/10.1146/annurev.genom.7.080505.115610; PMID: 16722803
   PubMed Web of Science ®Google Scholar
• Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 2011; 26:1039 - 56; http://dx.doi.org/10.1007/s00467-010-1731-7; PMID: 21210154
   PubMed Web of Science ®Google Scholar
• Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol 2011; 43:12 - 26; http://dx.doi.org/10.1007/s12035-010-8154-0; PMID: 21110233
   PubMed Web of Science ®Google Scholar
• Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet 2008; 45:257 - 67; http://dx.doi.org/10.1136/jmg.2007.054999; PMID: 18178628
   PubMed Web of Science ®Google Scholar
• Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat 2010; 31:1097 - 108; http://dx.doi.org/10.1002/humu.21337; PMID: 20690115
   PubMed Web of Science ®Google Scholar
• Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009; 41:739 - 45; http://dx.doi.org/10.1038/ng.366; PMID: 19430481
   PubMed Web of Science ®Google Scholar
• Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, et al, NISC Comparative Sequencing Program. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011; 43:189 - 96; http://dx.doi.org/10.1038/ng.756; PMID: 21258341
   PubMed Web of Science ®Google Scholar
• Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006; 130:1236 - 8; PMID: 16879033
   PubMed Web of Science ®Google Scholar
• Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007; 81:170 - 9; http://dx.doi.org/10.1086/519494; PMID: 17564974
   PubMed Web of Science ®Google Scholar
• Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008; 82:959 - 70; http://dx.doi.org/10.1016/j.ajhg.2008.02.017; PMID: 18371931
   PubMed Web of Science ®Google Scholar
• Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007; 39:875 - 81; http://dx.doi.org/10.1038/ng2039; PMID: 17558409
   PubMed Web of Science ®Google Scholar
• Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet 2011; 89:94 - 110; http://dx.doi.org/10.1016/j.ajhg.2011.06.003; PMID: 21763481
   PubMed Web of Science ®Google Scholar
• Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum Mol Genet 2011; 20:2524 - 34; http://dx.doi.org/10.1093/hmg/ddr151; PMID: 21493627
   PubMed Web of Science ®Google Scholar
• Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006; 38:155 - 7; http://dx.doi.org/10.1038/ng1714; PMID: 16415886
   PubMed Web of Science ®Google Scholar
• Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS. Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet 2013; 50:160 - 2; http://dx.doi.org/10.1136/jmedgenet-2012-101431; PMID: 23349226
   PubMed Web of Science ®Google Scholar
• Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FSA. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat 2011; 32:573 - 8; http://dx.doi.org/10.1002/humu.21507; PMID: 21462283
   PubMed Web of Science ®Google Scholar
• Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006; 38:191 - 6; http://dx.doi.org/10.1038/ng1713; PMID: 16415887
   PubMed Web of Science ®Google Scholar
• Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 2008; 82:1361 - 7; http://dx.doi.org/10.1016/j.ajhg.2008.05.004; PMID: 18513680
   PubMed Web of Science ®Google Scholar
• Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010; 42:619 - 25; http://dx.doi.org/10.1038/ng.594; PMID: 20512146
   PubMed Web of Science ®Google Scholar
• Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, et al. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet 2013; 21:762 - 8; http://dx.doi.org/10.1038/ejhg.2012.254; PMID: 23169490
   PubMed Web of Science ®Google Scholar
• Szymanska K, Berry I, Logan CV, Cousins SR, Lindsay H, Jafri H, Raashid Y, Malik-Sharif S, Castle B, Ahmed M, et al. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia 2012; 1:18; http://dx.doi.org/10.1186/2046-2530-1-18; PMID: 23351400
   PubMedGoogle Scholar
• Williams CL, Masyukova SV, Yoder BK. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. J Am Soc Nephrol 2010; 21:782 - 93; http://dx.doi.org/10.1681/ASN.2009060597; PMID: 20150540
   PubMed Web of Science ®Google Scholar
• Town T, Breunig JJ, Sarkisian MR, Spilianakis C, Ayoub AE, Liu X, Ferrandino AF, Gallagher AR, Li MO, Rakic P, et al. The stumpy gene is required for mammalian ciliogenesis. Proc Natl Acad Sci U S A 2008; 105:2853 - 8; http://dx.doi.org/10.1073/pnas.0712385105; PMID: 18287022
   PubMed Web of Science ®Google Scholar
• Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, et al. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J Cell Sci 2009; 122:611 - 24; http://dx.doi.org/10.1242/jcs.028621; PMID: 19208769
   PubMed Web of Science ®Google Scholar
• Keller LC, Geimer S, Romijn E, Yates J 3rd, Zamora I, Marshall WF. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. Mol Biol Cell 2009; 20:1150 - 66; http://dx.doi.org/10.1091/mbc.E08-06-0619; PMID: 19109428
   PubMed Web of Science ®Google Scholar
• Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, 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 2006; 15:1847 - 57; http://dx.doi.org/10.1093/hmg/ddl107; PMID: 16632484
   PubMed Web of Science ®Google Scholar
• Sayer JA, Otto EA, O’Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38:674 - 81; http://dx.doi.org/10.1038/ng1786; PMID: 16682973
   PubMed Web of Science ®Google Scholar
• Dawe HR, Adams M, Wheway G, Szymanska K, Logan CV, Noegel AA, Gull K, Johnson CA. Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. J Cell Sci 2009; 122:2716 - 26; http://dx.doi.org/10.1242/jcs.043794; PMID: 19596800
   PubMed Web of Science ®Google Scholar
• Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 2007; 16:173 - 86; http://dx.doi.org/10.1093/hmg/ddl459; PMID: 17185389
   PubMed Web of Science ®Google Scholar
• Weatherbee SD, Niswander LA, Anderson KV. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet 2009; 18:4565 - 75; http://dx.doi.org/10.1093/hmg/ddp422; PMID: 19776033
   PubMed Web of Science ®Google Scholar
• Wheway G, Abdelhamed Z, Natarajan S, Toomes C, Inglehearn C, Johnson CA. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Dev Biol 2013; 377:55 - 66; http://dx.doi.org/10.1016/j.ydbio.2013.02.015; PMID: 23454480
   PubMed Web of Science ®Google Scholar
• Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT. A mouse model for Meckel syndrome type 3. J Am Soc Nephrol 2009; 20:753 - 64; http://dx.doi.org/10.1681/ASN.2008040412; PMID: 19211713
   PubMed Web of Science ®Google Scholar
• Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH 2nd, et al. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet 2009; 18:3311 - 23; http://dx.doi.org/10.1093/hmg/ddp272; PMID: 19515853
   PubMed Web of Science ®Google Scholar
• Pluznick JL, Rodriguez-Gil DJ, Hull M, Mistry K, Gattone V, Johnson CA, Weatherbee S, Greer CA, Caplan MJ. Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium. PLoS One 2011; 6:e19694; http://dx.doi.org/10.1371/journal.pone.0019694; PMID: 21614130
   PubMedGoogle Scholar
• Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, et al. A meckelin-filamin A interaction mediates ciliogenesis. Hum Mol Genet 2012; 21:1272 - 86; http://dx.doi.org/10.1093/hmg/ddr557; PMID: 22121117
   PubMed Web of Science ®Google Scholar
• Kim J, Krishnaswami SR, Gleeson JG. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet 2008; 17:3796 - 805; http://dx.doi.org/10.1093/hmg/ddn277; PMID: 18772192
   PubMed Web of Science ®Google Scholar
• Ponsard C, Skowron-Zwarg M, Seltzer V, Perret E, Gallinger J, Fisch C, Dupuis-Williams P, Caruso N, Middendorp S, Tournier F. Identification of ICIS-1, a new protein involved in cilia stability. Front Biosci 2007; 12:1661 - 9; http://dx.doi.org/10.2741/2178; PMID: 17127412
   PubMed Web of Science ®Google Scholar
• Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D. The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Hum Mol Genet 2011; 20:4041 - 55; http://dx.doi.org/10.1093/hmg/ddr332; PMID: 21816947
   PubMed Web of Science ®Google Scholar
• Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet 2008; 82:1011 - 8; http://dx.doi.org/10.1016/j.ajhg.2008.01.021; PMID: 18387594
   PubMed Web of Science ®Google Scholar
• Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 2011; 43:776 - 84; http://dx.doi.org/10.1038/ng.891; PMID: 21725307
   PubMed Web of Science ®Google Scholar
• Bloodgood RA. The future of ciliary and flagellar membrane research. Mol Biol Cell 2012; 23:2407 - 11; http://dx.doi.org/10.1091/mbc.E12-01-0073; PMID: 22745341
   PubMed Web of Science ®Google Scholar
• Francis SS, Sfakianos J, Lo B, Mellman I. A hierarchy of signals regulates entry of membrane proteins into the ciliary membrane domain in epithelial cells. J Cell Biol 2011; 193:219 - 33; http://dx.doi.org/10.1083/jcb.201009001; PMID: 21444686
   PubMed Web of Science ®Google Scholar
• Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol 2012; 14:61 - 72; http://dx.doi.org/10.1038/ncb2410; PMID: 22179047
   PubMed Web of Science ®Google Scholar
• Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011; 145:513 - 28; http://dx.doi.org/10.1016/j.cell.2011.04.019; PMID: 21565611
   PubMed Web of Science ®Google Scholar
• Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol 2011; 192:1023 - 41; http://dx.doi.org/10.1083/jcb.201012116; PMID: 21422230
   PubMed Web of Science ®Google Scholar
• Shiba D, Manning DK, Koga H, Beier DR, Yokoyama T. Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) 2010; 67:112 - 9; PMID: 20169535
   PubMed Web of Science ®Google Scholar
• Hu Q, Milenkovic L, Jin H, Scott MP, Nachury MV, Spiliotis ET, Nelson WJ. A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution. Science 2010; 329:436 - 9; http://dx.doi.org/10.1126/science.1191054; PMID: 20558667
   PubMed Web of Science ®Google Scholar
• Dishinger JF, Kee HL, Jenkins PM, Fan S, Hurd TW, Hammond JW, Truong YN-T, Margolis B, Martens JR, Verhey KJ. Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTP. Nat Cell Biol 2010; 12:703 - 10; http://dx.doi.org/10.1038/ncb2073; PMID: 20526328
   PubMed Web of Science ®Google Scholar
• Hurd TW, Fan S, Margolis BL. Localization of retinitis pigmentosa 2 to cilia is regulated by Importin β2. J Cell Sci 2011; 124:718 - 26; http://dx.doi.org/10.1242/jcs.070839; PMID: 21285245
   PubMed Web of Science ®Google Scholar
• Kee HL, Dishinger JF, Blasius TL, Liu CJ, Margolis B, Verhey KJ. A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia. Nat Cell Biol 2012; 14:431 - 7; http://dx.doi.org/10.1038/ncb2450; PMID: 22388888
   PubMed Web of Science ®Google Scholar
• Finetti F, Paccani SR, Riparbelli MG, Giacomello E, Perinetti G, Pazour GJ, Rosenbaum JL, Baldari CT. Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse. Nat Cell Biol 2009; 11:1332 - 9; http://dx.doi.org/10.1038/ncb1977; PMID: 19855387
   PubMed Web of Science ®Google Scholar
• Norris DP, Grimes DT. Mouse models of ciliopathies: the state of the art. Dis Model Mech 2012; 5:299 - 312; http://dx.doi.org/10.1242/dmm.009340; PMID: 22566558
   PubMed Web of Science ®Google Scholar
• Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet 2013; 22:1358 - 72; http://dx.doi.org/10.1093/hmg/dds546; PMID: 23283079
   PubMed Web of Science ®Google Scholar
• Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK. Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis. Invest Ophthalmol Vis Sci 2012; 53:967 - 74; http://dx.doi.org/10.1167/iovs.11-8766; PMID: 22247471
   PubMed Web of Science ®Google Scholar
• Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, et al. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech 2011; 4:43 - 56; http://dx.doi.org/10.1242/dmm.006262; PMID: 21045211
   PubMed Web of Science ®Google Scholar
• Lancaster MA, Schroth J, Gleeson JG. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol 2011; 13:700 - 7; http://dx.doi.org/10.1038/ncb2259; PMID: 21602792
   PubMed Web of Science ®Google Scholar
• Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum Mol Genet 2013; 22:2024 - 40; http://dx.doi.org/10.1093/hmg/ddt054; PMID: 23393159
   PubMed Web of Science ®Google Scholar
• Mahuzier A, Gaudé HM, Grampa V, Anselme I, Silbermann F, Leroux-Berger M, Delacour D, Ezan J, Montcouquiol M, Saunier S, et al. Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. J Cell Biol 2012; 198:927 - 40; http://dx.doi.org/10.1083/jcb.201111009; PMID: 22927466
   PubMed Web of Science ®Google Scholar
• Vierkotten J, Dildrop R, Peters T, Wang B, Rüther U. Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 2007; 134:2569 - 77; http://dx.doi.org/10.1242/dev.003715; PMID: 17553904
   PubMed Web of Science ®Google Scholar
• Breunig JJ, Sarkisian MR, Arellano JI, Morozov YM, Ayoub AE, Sojitra S, Wang B, Flavell RA, Rakic P, Town T. Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling. Proc Natl Acad Sci U S A 2008; 105:13127 - 32; http://dx.doi.org/10.1073/pnas.0804558105; PMID: 18728187
   PubMed Web of Science ®Google Scholar
• Wallingford JB, Mitchell B. Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev 2011; 25:201 - 13; http://dx.doi.org/10.1101/gad.2008011; PMID: 21289065
   PubMed Web of Science ®Google Scholar
• Tanaka Y, Okada Y, Hirokawa N. FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature 2005; 435:172 - 7; http://dx.doi.org/10.1038/nature03494; PMID: 15889083
   PubMed Web of Science ®Google Scholar
• Schneider L, Clement CA, Teilmann SC, Pazour GJ, Hoffmann EK, Satir P, Christensen ST. PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts. Curr Biol 2005; 15:1861 - 6; http://dx.doi.org/10.1016/j.cub.2005.09.012; PMID: 16243034
   PubMed Web of Science ®Google Scholar
• Ezratty EJ, Stokes N, Chai S, Shah AS, Williams SE, Fuchs E. A role for the primary cilium in Notch signaling and epidermal differentiation during skin development. Cell 2011; 145:1129 - 41; http://dx.doi.org/10.1016/j.cell.2011.05.030; PMID: 21703454
   PubMed Web of Science ®Google Scholar
• Ravine D, Gibson RN, Donlan J, Sheffield LJ. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis 1993; 22:803 - 7; PMID: 8250026
   PubMed Web of Science ®Google Scholar
• Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med 2009; 60:321 - 37; http://dx.doi.org/10.1146/annurev.med.60.101707.125712; PMID: 18947299
   PubMed Web of Science ®Google Scholar
• Wolf MT, Hildebrandt F. Nephronophthisis. Pediatr Nephrol 2011; 26:181 - 94; http://dx.doi.org/10.1007/s00467-010-1585-z; PMID: 20652329
   PubMed Web of Science ®Google Scholar
• Watnick T, Germino G. From cilia to cyst. Nat Genet 2003; 34:355 - 6; http://dx.doi.org/10.1038/ng0803-355; PMID: 12923538
   PubMed Web of Science ®Google Scholar
• Winyard P, Jenkins D. Putative roles of cilia in polycystic kidney disease. Biochim Biophys Acta 2011; 1812:1256 - 62; http://dx.doi.org/10.1016/j.bbadis.2011.04.012; PMID: 21586324
   PubMed Web of Science ®Google Scholar
• Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AEH, Lu W, Brown EM, Quinn SJ, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003; 33:129 - 37; http://dx.doi.org/10.1038/ng1076; PMID: 12514735
   PubMed Web of Science ®Google Scholar
• Wang S, Zhang J, Nauli SM, Li X, Starremans PG, Luo Y, Roberts KA, Zhou J. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol 2007; 27:3241 - 52; http://dx.doi.org/10.1128/MCB.00072-07; PMID: 17283055
   PubMed Web of Science ®Google Scholar
• Köttgen M, Buchholz B, Garcia-Gonzalez MA, Kotsis F, Fu X, Doerken M, Boehlke C, Steffl D, Tauber R, Wegierski T, et al. TRPP2 and TRPV4 form a polymodal sensory channel complex. J Cell Biol 2008; 182:437 - 47; http://dx.doi.org/10.1083/jcb.200805124; PMID: 18695040
   PubMed Web of Science ®Google Scholar
• Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P. Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum Mol Genet 2008; 17:1578 - 90; http://dx.doi.org/10.1093/hmg/ddn045; PMID: 18263895
   PubMed Web of Science ®Google Scholar
• Davenport JR, Watts AJ, Roper VC, Croyle MJ, van Groen T, Wyss JM, Nagy TR, Kesterson RA, Yoder BK. Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol 2007; 17:1586 - 94; http://dx.doi.org/10.1016/j.cub.2007.08.034; PMID: 17825558
   PubMed Web of Science ®Google Scholar
• Lin F, Hiesberger T, Cordes K, Sinclair AM, Goldstein LS, Somlo S, Igarashi P. Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc Natl Acad Sci U S A 2003; 100:5286 - 91; http://dx.doi.org/10.1073/pnas.0836980100; PMID: 12672950
   PubMed Web of Science ®Google Scholar
• Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B. Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum Mol Genet 2010; 19:2792 - 803; http://dx.doi.org/10.1093/hmg/ddq180; PMID: 20444807
   PubMed Web of Science ®Google Scholar
• Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009; 76:149 - 68; http://dx.doi.org/10.1038/ki.2009.128; PMID: 19455193
   PubMed Web of Science ®Google Scholar
• Chapin HC, Caplan MJ. The cell biology of polycystic kidney disease. J Cell Biol 2010; 191:701 - 10; http://dx.doi.org/10.1083/jcb.201006173; PMID: 21079243
   PubMed Web of Science ®Google Scholar
• Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A 2006; 103:5466 - 71; http://dx.doi.org/10.1073/pnas.0509694103; PMID: 16567633
   PubMed Web of Science ®Google Scholar
• Dere R, Wilson PD, Sandford RN, Walker CL. Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. PLoS One 2010; 5:e9239; http://dx.doi.org/10.1371/journal.pone.0009239; PMID: 20169078
   PubMedGoogle Scholar
• Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, Germino GG, Pandolfi PP, Boletta A. Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1. Mol Cell Biol 2009; 29:2359 - 71; http://dx.doi.org/10.1128/MCB.01259-08; PMID: 19255143
   PubMed Web of Science ®Google Scholar
• Boehlke C, Kotsis F, Patel V, Braeg S, Voelker H, Bredt S, Beyer T, Janusch H, Hamann C, Gödel M, et al. Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat Cell Biol 2010; 12:1115 - 22; http://dx.doi.org/10.1038/ncb2117; PMID: 20972424
   PubMed Web of Science ®Google Scholar
• Bonnet CS, Aldred M, von Ruhland C, Harris R, Sandford R, Cheadle JP. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Hum Mol Genet 2009; 18:2166 - 76; http://dx.doi.org/10.1093/hmg/ddp149; PMID: 19321600
   PubMed Web of Science ®Google Scholar
• Torres VE, Boletta A, Chapman A, Gattone V, Pei Y, Qian Q, Wallace DP, Weimbs T, Wüthrich RP. Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases. Clin J Am Soc Nephrol 2010; 5:1312 - 29; http://dx.doi.org/10.2215/CJN.01360210; PMID: 20498248
   PubMed Web of Science ®Google Scholar
• Weimbs T. Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1. Am J Physiol Renal Physiol 2007; 293:F1423 - 32; http://dx.doi.org/10.1152/ajprenal.00275.2007; PMID: 17715262
   PubMedGoogle Scholar
• Weimbs T. Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?. Cell Cycle 2006; 5:2425 - 9; http://dx.doi.org/10.4161/cc.5.21.3408; PMID: 17102641
   PubMed Web of Science ®Google Scholar
• Walz G, Budde K, Mannaa M, Nürnberger J, Wanner C, Sommerer C, Kunzendorf U, Banas B, Hörl WH, Obermüller N, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2010; 363:830 - 40; http://dx.doi.org/10.1056/NEJMoa1003491; PMID: 20581392
   PubMed Web of Science ®Google Scholar
• Serra AL, Poster D, Kistler AD, Krauer F, Raina S, Young J, Rentsch KM, Spanaus KS, Senn O, Kristanto P, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med 2010; 363:820 - 9; http://dx.doi.org/10.1056/NEJMoa0907419; PMID: 20581391
   PubMed Web of Science ®Google Scholar
• Bukanov NO, Smith LA, Klinger KW, Ledbetter SR, Ibraghimov-Beskrovnaya O. Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature 2006; 444:949 - 52; http://dx.doi.org/10.1038/nature05348; PMID: 17122773
   PubMed Web of Science ®Google Scholar
• Bukanov NO, Moreno SE, Natoli TA, Rogers KA, Smith LA, Ledbetter SR, Oumata N, Galons H, Meijer L, Ibraghimov-Beskrovnaya O. CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD. Cell Cycle 2012; 11:4040 - 6; http://dx.doi.org/10.4161/cc.22375; PMID: 23032260
   PubMed Web of Science ®Google Scholar
• Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009; 76:149 - 68; http://dx.doi.org/10.1038/ki.2009.128; PMID: 19455193
   PubMed Web of Science ®Google Scholar
• Kikuchi A, Yamamoto H, Sato A. Selective activation mechanisms of Wnt signaling pathways. Trends Cell Biol 2009; 19:119 - 29; http://dx.doi.org/10.1016/j.tcb.2009.01.003; PMID: 19208479
   PubMed Web of Science ®Google Scholar
• Rao TP, Kühl M. An updated overview on Wnt signaling pathways: a prelude for more. Circ Res 2010; 106:1798 - 806; http://dx.doi.org/10.1161/CIRCRESAHA.110.219840; PMID: 20576942
   PubMed Web of Science ®Google Scholar
• van Amerongen R, Nusse R. Towards an integrated view of Wnt signaling in development. Development 2009; 136:3205 - 14; http://dx.doi.org/10.1242/dev.033910; PMID: 19736321
   PubMed Web of Science ®Google Scholar
• Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 2005; 37:1135 - 40; http://dx.doi.org/10.1038/ng1644; PMID: 16170314
   PubMed Web of Science ®Google Scholar
• Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Krönig C, Schermer B, Benzing T, Cabello OA, Jenny A, et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet 2005; 37:537 - 43; http://dx.doi.org/10.1038/ng1552; PMID: 15852005
   PubMed Web of Science ®Google Scholar
• Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med 2009; 15:1046 - 54; http://dx.doi.org/10.1038/nm.2010; PMID: 19718039
   PubMed Web of Science ®Google Scholar
• Anastas JN, Moon RT. WNT signalling pathways as therapeutic targets in cancer. Nat Rev Cancer 2013; 13:11 - 26; http://dx.doi.org/10.1038/nrc3419; PMID: 23258168
   PubMed Web of Science ®Google Scholar
• Saadi-Kheddouci S, Berrebi D, Romagnolo B, Cluzeaud F, Peuchmaur M, Kahn A, Vandewalle A, Perret C. Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene. Oncogene 2001; 20:5972 - 81; http://dx.doi.org/10.1038/sj.onc.1204825; PMID: 11593404
   PubMed Web of Science ®Google Scholar
• Qian CN, Knol J, Igarashi P, Lin F, Zylstra U, Teh BT, Williams BO. Cystic renal neoplasia following conditional inactivation of apc in mouse renal tubular epithelium. J Biol Chem 2005; 280:3938 - 45; http://dx.doi.org/10.1074/jbc.M410697200; PMID: 15550389
   PubMed Web of Science ®Google Scholar
• Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC. An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 2000; 407:535 - 8; http://dx.doi.org/10.1038/35035124; PMID: 11029008
   PubMed Web of Science ®Google Scholar
• Kim E, Arnould T, Sellin LK, Benzing T, Fan MJ, Grüning W, Sokol SY, Drummond I, Walz G. The polycystic kidney disease 1 gene product modulates Wnt signaling. J Biol Chem 1999; 274:4947 - 53; http://dx.doi.org/10.1074/jbc.274.8.4947; PMID: 9988738
   PubMed Web of Science ®Google Scholar
• Lal M, Song X, Pluznick JL, Di Giovanni V, Merrick DM, Rosenblum ND, Chauvet V, Gottardi CJ, Pei Y, Caplan MJ. Polycystin-1 C-terminal tail associates with β-catenin and inhibits canonical Wnt signaling. Hum Mol Genet 2008; 17:3105 - 17; http://dx.doi.org/10.1093/hmg/ddn208; PMID: 18632682
   PubMed Web of Science ®Google Scholar
• Kestler HA, Kühl M. From individual Wnt pathways towards a Wnt signalling network. Philos Trans R Soc Lond B Biol Sci 2008; 363:1333 - 47; http://dx.doi.org/10.1098/rstb.2007.2251; PMID: 18192173
   PubMed Web of Science ®Google Scholar
• De A. Wnt/Ca2+ signaling pathway: a brief overview. Acta Biochim Biophys Sin (Shanghai) 2011; 43:745 - 56; http://dx.doi.org/10.1093/abbs/gmr079; PMID: 21903638
   PubMed Web of Science ®Google Scholar
• Burn SF, Webb A, Berry RL, Davies JA, Ferrer-Vaquer A, Hadjantonakis AK, Hastie ND, Hohenstein P. Calcium/NFAT signalling promotes early nephrogenesis. Dev Biol 2011; 352:288 - 98; http://dx.doi.org/10.1016/j.ydbio.2011.01.033; PMID: 21295565
   PubMed Web of Science ®Google Scholar
• Cao Y, Park A, Sun Z. Intraflagellar transport proteins are essential for cilia formation and for planar cell polarity. J Am Soc Nephrol 2010; 21:1326 - 33; http://dx.doi.org/10.1681/ASN.2009091001; PMID: 20576807
   PubMed Web of Science ®Google Scholar
• Fischer E, Legue E, Doyen A, Nato F, Nicolas J-F, Torres V, Yaniv M, Pontoglio M. Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006; 38:21 - 3; http://dx.doi.org/10.1038/ng1701; PMID: 16341222
   PubMed Web of Science ®Google Scholar
• Luyten A, Su X, Gondela S, Chen Y, Rompani S, Takakura A, Zhou J. Aberrant regulation of planar cell polarity in polycystic kidney disease. J Am Soc Nephrol 2010; 21:1521 - 32; http://dx.doi.org/10.1681/ASN.2010010127; PMID: 20705705
   PubMed Web of Science ®Google Scholar
• Nishio S, Tian X, Gallagher AR, Yu Z, Patel V, Igarashi P, Somlo S. Loss of oriented cell division does not initiate cyst formation. J Am Soc Nephrol 2010; 21:295 - 302; http://dx.doi.org/10.1681/ASN.2009060603; PMID: 19959710
   PubMed Web of Science ®Google Scholar
• Sugiyama N, Tsukiyama T, Yamaguchi TP, Yokoyama T. The canonical Wnt signaling pathway is not involved in renal cyst development in the kidneys of inv mutant mice. Kidney Int 2011; 79:957 - 65; http://dx.doi.org/10.1038/ki.2010.534; PMID: 21248711
   PubMed Web of Science ®Google Scholar
• Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 2003; 426:83 - 7; http://dx.doi.org/10.1038/nature02061; PMID: 14603322
   PubMed Web of Science ®Google Scholar
• Ehlen HW, Buelens LA, Vortkamp A. Hedgehog signaling in skeletal development. Birth Defects Res C Embryo Today 2006; 78:267 - 79; http://dx.doi.org/10.1002/bdrc.20076; PMID: 17061262
   PubMedGoogle Scholar
• Bürglin TR, Kuwabara PE. Homologs of the Hh signalling network in C. elegans. WormBook 2006; 28:1 - 14; PMID: 18050469
   PubMedGoogle Scholar
• Rohatgi R, Milenkovic L, Scott MP. Patched1 regulates hedgehog signaling at the primary cilium. Science 2007; 317:372 - 6; http://dx.doi.org/10.1126/science.1139740; PMID: 17641202
   PubMed Web of Science ®Google Scholar
• May SR, Ashique AM, Karlen M, Wang B, Shen Y, Zarbalis K, Reiter J, Ericson J, Peterson AS. Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev Biol 2005; 287:378 - 89; http://dx.doi.org/10.1016/j.ydbio.2005.08.050; PMID: 16229832
   PubMed Web of Science ®Google Scholar
• Huangfu D, Anderson KV. Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A 2005; 102:11325 - 30; http://dx.doi.org/10.1073/pnas.0505328102; PMID: 16061793
   PubMed Web of Science ®Google Scholar
• Liu A, Wang B, Niswander LA. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 2005; 132:3103 - 11; http://dx.doi.org/10.1242/dev.01894; PMID: 15930098
   PubMed Web of Science ®Google Scholar
• Haycraft CJ, Banizs B, Aydin-Son Y, Zhang Q, Michaud EJ, Yoder BK. Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet 2005; 1:e53; http://dx.doi.org/10.1371/journal.pgen.0010053; PMID: 16254602
   PubMed Web of Science ®Google Scholar
• Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen J-W, Phamluong K, Davis M, Scales SJ, Solloway MJ, de Sauvage FJ, et al. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 2009; 19:1320 - 6; http://dx.doi.org/10.1016/j.cub.2009.06.046; PMID: 19592253
   PubMed Web of Science ®Google Scholar
• Tukachinsky H, Lopez LV, Salic A. A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu-Gli protein complexes. J Cell Biol 2010; 191:415 - 28; http://dx.doi.org/10.1083/jcb.201004108; PMID: 20956384
   PubMed Web of Science ®Google Scholar
• Kim J, Kato M, Beachy PA. Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus. Proc Natl Acad Sci U S A 2009; 106:21666 - 71; http://dx.doi.org/10.1073/pnas.0912180106; PMID: 19996169
   PubMed Web of Science ®Google Scholar
• Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R. The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Genes Dev 2010; 24:670 - 82; http://dx.doi.org/10.1101/gad.1902910; PMID: 20360384
   PubMed Web of Science ®Google Scholar
• Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 2010; 11:331 - 44; http://dx.doi.org/10.1038/nrg2774; PMID: 20395968
   PubMed Web of Science ®Google Scholar
• Ding Q, Fukami Si, Meng X, Nishizaki Y, Zhang X, Sasaki H, Dlugosz A, Nakafuku M, Hui Cc. Mouse suppressor of fused is a negative regulator of sonic hedgehog signaling and alters the subcellular distribution of Gli1. Curr Biol 1999; 9:1119 - 22; http://dx.doi.org/10.1016/S0960-9822(99)80482-5; PMID: 10531011
   PubMed Web of Science ®Google Scholar
• Zeng H, Jia J, Liu A. Coordinated translocation of mammalian Gli proteins and suppressor of fused to the primary cilium. PLoS One 2010; 5:e15900; http://dx.doi.org/10.1371/journal.pone.0015900; PMID: 21209912
   PubMedGoogle Scholar
• Chen M-H, Wilson CW, Li Y-J, Law KKL, Lu C-S, Gacayan R, Zhang X, Hui CC, Chuang P-T. Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved. Genes Dev 2009; 23:1910 - 28; http://dx.doi.org/10.1101/gad.1794109; PMID: 19684112
   PubMed Web of Science ®Google Scholar
• Jia J, Kolterud A, Zeng H, Hoover A, Teglund S, Toftgård R, Liu A. Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia. Dev Biol 2009; 330:452 - 60; http://dx.doi.org/10.1016/j.ydbio.2009.04.009; PMID: 19371734
   PubMed Web of Science ®Google Scholar
• Brennan D, Chen X, Cheng L, Mahoney M, Riobo NA. Noncanonical Hedgehog signaling. Vitam Horm 2012; 88:55 - 72; http://dx.doi.org/10.1016/B978-0-12-394622-5.00003-1; PMID: 22391299
   PubMed Web of Science ®Google Scholar
• Louvi A, Grove EA. Cilia in the CNS: the quiet organelle claims center stage. Neuron 2011; 69:1046 - 60; http://dx.doi.org/10.1016/j.neuron.2011.03.002; PMID: 21435552
   PubMed Web of Science ®Google Scholar
• Ruat M, Roudaut H, Ferent J, Traiffort E. Hedgehog trafficking, cilia and brain functions. Differentiation 2012; 83:S97 - 104; http://dx.doi.org/10.1016/j.diff.2011.11.011; PMID: 22169886
   PubMedGoogle Scholar
• Del Bigio MR. Ependymal cells: biology and pathology. Acta Neuropathol 2010; 119:55 - 73; http://dx.doi.org/10.1007/s00401-009-0624-y; PMID: 20024659
   PubMed Web of Science ®Google Scholar
• Kishimoto N, Sawamoto K. Planar polarity of ependymal cilia. Differentiation 2012; 83:S86 - 90; http://dx.doi.org/10.1016/j.diff.2011.10.007; PMID: 22101065
   PubMedGoogle Scholar
• Banizs B, Pike MM, Millican CL, Ferguson WB, Komlosi P, Sheetz J, Bell PD, Schwiebert EM, Yoder BK. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Development 2005; 132:5329 - 39; http://dx.doi.org/10.1242/dev.02153; PMID: 16284123
   PubMed Web of Science ®Google Scholar
• Narita K, Kawate T, Kakinuma N, Takeda S. Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium. Traffic 2010; 11:287 - 301; http://dx.doi.org/10.1111/j.1600-0854.2009.01016.x; PMID: 19958467
   PubMed Web of Science ®Google Scholar
• Breunig JJ, Haydar TF, Rakic P. Neural stem cells: historical perspective and future prospects. Neuron 2011; 70:614 - 25; http://dx.doi.org/10.1016/j.neuron.2011.05.005; PMID: 21609820
   PubMed Web of Science ®Google Scholar
• Faigle R, Song H. Signaling mechanisms regulating adult neural stem cells and neurogenesis. Biochim Biophys Acta 2013; 1830:2435 - 48; http://dx.doi.org/10.1016/j.bbagen.2012.09.002; PMID: 22982587
   PubMed Web of Science ®Google Scholar
• Keller R, Shook D, Skoglund P. The forces that shape embryos: physical aspects of convergent extension by cell intercalation. Phys Biol 2008; 5:015007; http://dx.doi.org/10.1088/1478-3975/5/1/015007; PMID: 18403829
   PubMedGoogle Scholar
• Han YG, Spassky N, Romaguera-Ros M, Garcia-Verdugo JM, Aguilar A, Schneider-Maunoury S, Alvarez-Buylla A. Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells. Nat Neurosci 2008; 11:277 - 84; http://dx.doi.org/10.1038/nn2059; PMID: 18297065
   PubMed Web of Science ®Google Scholar
• Murdoch JN, Copp AJ. The relationship between sonic Hedgehog signaling, cilia, and neural tube defects. Birth Defects Res A Clin Mol Teratol 2010; 88:633 - 52; http://dx.doi.org/10.1002/bdra.20686; PMID: 20544799
   PubMed Web of Science ®Google Scholar
• Heydeck W, Zeng H, Liu A. Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse. Dev Dyn 2009; 238:3035 - 42; http://dx.doi.org/10.1002/dvdy.22130; PMID: 19877275
   PubMed Web of Science ®Google Scholar
• Corbit KC, Shyer AE, Dowdle WE, Gaulden J, Singla V, Chen MH, Chuang PT, Reiter JF. Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms. Nat Cell Biol 2008; 10:70 - 6; http://dx.doi.org/10.1038/ncb1670; PMID: 18084282
   PubMed Web of Science ®Google Scholar
• Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, DeMartino GN, Fisher S, et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet 2007; 39:1350 - 60; http://dx.doi.org/10.1038/ng.2007.12; PMID: 17906624
   PubMed Web of Science ®Google Scholar
• Heydeck W, Liu A. PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube. Dev Dyn 2011; 240:1938 - 48; http://dx.doi.org/10.1002/dvdy.22696; PMID: 21761479
   PubMed Web of Science ®Google Scholar
• Jones C, Roper VC, Foucher I, Qian D, Banizs B, Petit C, Yoder BK, Chen P. Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat Genet 2008; 40:69 - 77; http://dx.doi.org/10.1038/ng.2007.54; PMID: 18066062
   PubMed Web of Science ®Google Scholar
• Park TJ, Haigo SL, Wallingford JB. Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat Genet 2006; 38:303 - 11; http://dx.doi.org/10.1038/ng1753; PMID: 16493421
   PubMed Web of Science ®Google Scholar
• Vogel TW, Carter CS, Abode-Iyamah K, Zhang Q, Robinson S. The role of primary cilia in the pathophysiology of neural tube defects. Neurosurg Focus 2012; 33:E2; http://dx.doi.org/10.3171/2012.6.FOCUS12222; PMID: 23025443
   PubMed Web of Science ®Google Scholar
• Huang X, Saint-Jeannet JP. Induction of the neural crest and the opportunities of life on the edge. Dev Biol 2004; 275:1 - 11; http://dx.doi.org/10.1016/j.ydbio.2004.07.033; PMID: 15464568
   PubMed Web of Science ®Google Scholar
• Wilsch-Bräuninger M, Peters J, Paridaen JT, Huttner WB. Basolateral rather than apical primary cilia on neuroepithelial cells committed to delamination. Development 2012; 139:95 - 105; http://dx.doi.org/10.1242/dev.069294; PMID: 22096071
   PubMed Web of Science ®Google Scholar
• De Calisto J, Araya C, Marchant L, Riaz CF, Mayor R. Essential role of non-canonical Wnt signalling in neural crest migration. Development 2005; 132:2587 - 97; http://dx.doi.org/10.1242/dev.01857; PMID: 15857909
   PubMed Web of Science ®Google Scholar
• Tapadia MD, Cordero DR, Helms JA. It’s all in your head: new insights into craniofacial development and deformation. J Anat 2005; 207:461 - 77; http://dx.doi.org/10.1111/j.1469-7580.2005.00484.x; PMID: 16313388
   PubMed Web of Science ®Google Scholar
• Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A 2008; 105:6714 - 9; http://dx.doi.org/10.1073/pnas.0707057105; PMID: 18443298
   PubMed Web of Science ®Google Scholar
• Franco SJ, Müller U. Shaping our minds: stem and progenitor cell diversity in the mammalian neocortex. Neuron 2013; 77:19 - 34; http://dx.doi.org/10.1016/j.neuron.2012.12.022; PMID: 23312513
   PubMed Web of Science ®Google Scholar
• Ayala R, Shu T, Tsai LH. Trekking across the brain: the journey of neuronal migration. Cell 2007; 128:29 - 43; http://dx.doi.org/10.1016/j.cell.2006.12.021; PMID: 17218253
   PubMed Web of Science ®Google Scholar
• Kriegstein AR, Noctor SC. Patterns of neuronal migration in the embryonic cortex. Trends Neurosci 2004; 27:392 - 9; http://dx.doi.org/10.1016/j.tins.2004.05.001; PMID: 15219738
   PubMed Web of Science ®Google Scholar
• Amador-Arjona A, Elliott J, Miller A, Ginbey A, Pazour GJ, Enikolopov G, Roberts AJ, Terskikh AV. Primary cilia regulate proliferation of amplifying progenitors in adult hippocampus: implications for learning and memory. J Neurosci 2011; 31:9933 - 44; http://dx.doi.org/10.1523/JNEUROSCI.1062-11.2011; PMID: 21734285
   PubMed Web of Science ®Google Scholar
• Besse L, Neti M, Anselme I, Gerhardt C, Rüther U, Laclef C, Schneider-Maunoury S. Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing. Development 2011; 138:2079 - 88; http://dx.doi.org/10.1242/dev.059808; PMID: 21490064
   PubMed Web of Science ®Google Scholar
• Willaredt MA, Hasenpusch-Theil K, Gardner HA, Kitanovic I, Hirschfeld-Warneken VC, Gojak CP, Gorgas K, Bradford CL, Spatz J, Wölfl S, et al. A crucial role for primary cilia in cortical morphogenesis. J Neurosci 2008; 28:12887 - 900; http://dx.doi.org/10.1523/JNEUROSCI.2084-08.2008; PMID: 19036983
   PubMed Web of Science ®Google Scholar
• Arellano JI, Guadiana SM, Breunig JJ, Rakic P, Sarkisian MR. Development and distribution of neuronal cilia in mouse neocortex. J Comp Neurol 2012; 520:848 - 73; http://dx.doi.org/10.1002/cne.22793; PMID: 22020803
   PubMed Web of Science ®Google Scholar
• Baudoin JP, Viou L, Launay PS, Luccardini C, Espeso Gil S, Kiyasova V, Irinopoulou T, Alvarez C, Rio JP, Boudier T, et al. Tangentially migrating neurons assemble a primary cilium that promotes their reorientation to the cortical plate. Neuron 2012; 76:1108 - 22; http://dx.doi.org/10.1016/j.neuron.2012.10.027; PMID: 23259947
   PubMed Web of Science ®Google Scholar
• Higginbotham H, Eom TY, Mariani LE, Bachleda A, Hirt J, Gukassyan V, Cusack CL, Lai C, Caspary T, Anton ES. Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex. Dev Cell 2012; 23:925 - 38; http://dx.doi.org/10.1016/j.devcel.2012.09.019; PMID: 23153492
   PubMed Web of Science ®Google Scholar
• Gorivodsky M, Mukhopadhyay M, Wilsch-Braeuninger M, Phillips M, Teufel A, Kim C, Malik N, Huttner W, Westphal H. Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain. Dev Biol 2009; 325:24 - 32; http://dx.doi.org/10.1016/j.ydbio.2008.09.019; PMID: 18930042
   PubMed Web of Science ®Google Scholar
• Stottmann RW, Tran PV, Turbe-Doan A, Beier DR. Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain. Dev Biol 2009; 335:166 - 78; http://dx.doi.org/10.1016/j.ydbio.2009.08.023; PMID: 19732765
   PubMed Web of Science ®Google Scholar
• Chizhikov VV, Davenport J, Zhang Q, Shih EK, Cabello OA, Fuchs JL, Yoder BK, Millen KJ. Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J Neurosci 2007; 27:9780 - 9; http://dx.doi.org/10.1523/JNEUROSCI.5586-06.2007; PMID: 17804638
   PubMed Web of Science ®Google Scholar
• Spassky N, Han YG, Aguilar A, Strehl L, Besse L, Laclef C, Ros MR, Garcia-Verdugo JM, Alvarez-Buylla A. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol 2008; 317:246 - 59; http://dx.doi.org/10.1016/j.ydbio.2008.02.026; PMID: 18353302
   PubMed Web of Science ®Google Scholar
• Clark CE, Nourse CC, Cooper HM. The tangled web of non-canonical Wnt signalling in neural migration. Neurosignals 2012; 20:202 - 20; http://dx.doi.org/10.1159/000332153; PMID: 22456117
   PubMed Web of Science ®Google Scholar
• Kumamoto N, Gu Y, Wang J, Janoschka S, Takemaru K, Levine J, Ge S. A role for primary cilia in glutamatergic synaptic integration of adult-born neurons. Nat Neurosci 2012; 15:399 - 405, S1; http://dx.doi.org/10.1038/nn.3042; PMID: 22306608
   PubMed Web of Science ®Google Scholar
• Heydet D, Chen LX, Larter CZ, Inglis C, Silverman MA, Farrell GC, Leroux MR. A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice. Dev Neurobiol 2013; 73:1 - 13; http://dx.doi.org/10.1002/dneu.22031; PMID: 22581473
   PubMed Web of Science ®Google Scholar
• Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet 2009; 18:1323 - 31; http://dx.doi.org/10.1093/hmg/ddp031; PMID: 19150989
   PubMed Web of Science ®Google Scholar
• Keryer G, Pineda JR, Liot G, Kim J, Dietrich P, Benstaali C, Smith K, Cordelières FP, Spassky N, Ferrante RJ, et al. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest 2011; 121:4372 - 82; http://dx.doi.org/10.1172/JCI57552; PMID: 21985783
   PubMed Web of Science ®Google Scholar
• Han YG, Kim HJ, Dlugosz AA, Ellison DW, Gilbertson RJ, Alvarez-Buylla A. Dual and opposing roles of primary cilia in medulloblastoma development. Nat Med 2009; 15:1062 - 5; http://dx.doi.org/10.1038/nm.2020; PMID: 19701203
   PubMed Web of Science ®Google Scholar
• Wong SY, Seol AD, So PL, Ermilov AN, Bichakjian CK, Epstein EH Jr., Dlugosz AA, Reiter JF. Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis. Nat Med 2009; 15:1055 - 61; http://dx.doi.org/10.1038/nm.2011; PMID: 19701205
   PubMed Web of Science ®Google Scholar
• Wood CR, Huang K, Diener DR, Rosenbaum JL. The cilium secretes bioactive ectosomes. Curr Biol 2013; 23:906 - 11; http://dx.doi.org/10.1016/j.cub.2013.04.019; PMID: 23623554
   PubMed Web of Science ®Google Scholar