Free Access
Med Sci (Paris)
Volume 30, Number 11, Novembre 2014
Cils primaires et ciliopathies
Page(s) 1011 - 1023
Section Cils primaires et ciliopathies
Published online 10 November 2014
  1. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genom Human Genet 2006 ; 7 : 125–148. [CrossRef] [Google Scholar]
  2. Kennedy B, Malicki J. What drives cell morphogenesis: a look inside the vertebrate photoreceptor. Dev Dyn 2009 ; 238 : 2115–2138. [CrossRef] [PubMed] [Google Scholar]
  3. Satir P, Pedersen LB, Christensen ST. The primary cilium at a glance. J Cell Sci 2010 ; 123 : 499–503. [CrossRef] [PubMed] [Google Scholar]
  4. Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 2010 ; 11 : 331–344. [CrossRef] [PubMed] [Google Scholar]
  5. Williams CL, Li C, Kida K, 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 : 1023–1041. [CrossRef] [PubMed] [Google Scholar]
  6. Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol 2002 ; 3 : 813–825. [CrossRef] [PubMed] [Google Scholar]
  7. Zariwala MA, Knowles MR, Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol 2007 ; 69 : 423–450. [CrossRef] [PubMed] [Google Scholar]
  8. Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 2009 ; 151 : 281–295. [CrossRef] [PubMed] [Google Scholar]
  9. Boon M, Jorissen M, Proesmans M, Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr 2013 ; 172 : 151–162. [CrossRef] [PubMed] [Google Scholar]
  10. Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999 ; 36 : 437–446. [PubMed] [Google Scholar]
  11. Putoux A, Thomas S, Coene KLM, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011 ; 43 : 601–606. [CrossRef] [PubMed] [Google Scholar]
  12. Zaki MS, Sattar S, Massoudi RA, Gleeson JG. Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A 2011 ; 155 : 3042–3049. [CrossRef] [Google Scholar]
  13. Mougou-Zerelli S, Thomas S, Szenker E, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat 2009 ; 30 : 1574–1582. [CrossRef] [PubMed] [Google Scholar]
  14. Sang L, Miller JJ, Corbit KC, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011 ; 145 : 513–528. [CrossRef] [PubMed] [Google Scholar]
  15. Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007 ; 129 : 1201–1213. [CrossRef] [PubMed] [Google Scholar]
  16. Van Reeuwijk J, Arts HH, Roepman R., Scrutinizing ciliopathies by unraveling ciliary interaction networks. Hum Mol Genet 2011 ; 20 : R149. [CrossRef] [PubMed] [Google Scholar]
  17. Katsanis N, Ansley SJ, Badano JL, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001 ; 293 : 2256–2259. [CrossRef] [PubMed] [Google Scholar]
  18. Hoefele J, Wolf MTF, O’Toole JF, et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007 ; 18 : 2789–2795. [CrossRef] [PubMed] [Google Scholar]
  19. Louie CM, Caridi G, Lopes VS, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010 ; 42 : 175–180. [CrossRef] [PubMed] [Google Scholar]
  20. Maria BL, Hoang KBN, Tusa RJ, et al. Joubert syndrome revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997 ; 12 : 423–430. [CrossRef] [PubMed] [Google Scholar]
  21. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 2013 ; 12 : 894–905. [CrossRef] [PubMed] [Google Scholar]
  22. Inglis PN, Boroevich KA, Leroux M. Piecing together a ciliome. Trends Genet 2006 ; 22 : 491–500. [CrossRef] [PubMed] [Google Scholar]
  23. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987 ; 236 : 1567–1570. [CrossRef] [PubMed] [Google Scholar]
  24. Parisi MA, Bennett CL, Eckert ML, et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 2004 ; 75 : 82–91. [CrossRef] [PubMed] [Google Scholar]
  25. Baala L, Romano S, Khaddour R, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007 ; 80 : 186–194. [CrossRef] [PubMed] [Google Scholar]
  26. Arts HH, Doherty D, van Beersum SEC, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007 ; 39 : 882–888. [CrossRef] [PubMed] [Google Scholar]
  27. Chang B, Khanna H, Hawes N, 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 : 1847–1857. [CrossRef] [PubMed] [Google Scholar]
  28. Sayer JA, Otto EA, O’Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006 ; 38 : 674–681. [CrossRef] [PubMed] [Google Scholar]
  29. Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 2011 ; 43 : 776–784. [CrossRef] [PubMed] [Google Scholar]
  30. Metzker ML. Sequencing technologies: the next generation. Nat Rev Genet 2010 ; 11 : 31–46. [Google Scholar]
  31. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011 ; 12 : 745–755. [CrossRef] [PubMed] [Google Scholar]
  32. Fort C, Bastin P. Élongation de l’axonème et dynamique du transport intraflagellaire. Med Sci (Paris) 2014 ; 30 : 955–961. [Google Scholar]
  33. Laclef C. Le cil primaire, orchestrateur de la morphogenèse cérébrale. Med Sci (Paris) 2014 ; 30 : 980–990. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  34. Diguet N, Meilhac SM. Cils et morphogenèse cardiaque. Med Sci (Paris) 2014 ; 30 : 996–1003. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  35. Chennen K, Scerbo MJ, Dollfus H, et al. BBS: cils et obésité : de la génétique à l’approche intégrative. Med Sci (Paris) 2014 ; 30 : 1034–1039. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  36. Paces-Fessy M. Cils et kystes rénaux. Med Sci (Paris) 2014 ; 30 : 1024–1033. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]

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