Primary ciliary dyskinesia: Recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

Expert Review of Respiratory Medicine

Volumn 6, Issue 6, 2012, Pages 663-682

  Bush, Andrew ^a,b   Hogg, Claire ^b  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b ROYAL BROMPTON HOSPITAL   (United Kingdom)

Author keywords

ciliopathy; gene; heterotaxy; Jeune's asphyxiating thoracic dystrophy; liver disease; obesity; polycystic kidney disease; primary ciliary dyskinesia; retinitis pigmentosa; sinusitis

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; TARGET OF RAPAMYCIN KINASE; THIOREDOXIN; TRANSCRIPTION FACTOR;

ALSTROM SYNDROME; BARDET BIEDL SYNDROME; BREATHING; CCDC103 GENE; CCDC39 GENE; CCDC40 GENE; CILIARY DYSKINESIA; CILIARY MOTILITY; CONGENITAL HEART DISEASE; CONSERVATIVE TREATMENT; DEVICE THERAPY; DIAGNOSTIC TEST; DNAAF1 GENE; DNAAF3 GENE; DNAH11 GENE; DNAH5 GENE; DNAI1 GENE; DNAI2 GENE; DNAL1 GENE; DYSOSTOSIS; ELECTRON MICROSCOPY; ELLIS VAN CREVELD SYNDROME; EPIDEMIOLOGICAL DATA; EXPERIMENTAL MODEL; GENE; GENE DELETION; GENE MUTATION; GENE PRODUCT; GENETIC SCREENING; HEAVY CHAIN; HUMAN; HYDROCEPHALUS; IMMUNOFLUORESCENCE TEST; JEUNE ASPHYXIATING THORACIC DYSTROPHY; JOUBERT SYNDROME; KIDNEY DISEASE; KTU GENE; LEBER CONGENITAL AMAUROSIS; LIGHT CHAIN; LIVER DISEASE; LOWER RESPIRATORY TRACT; MECKEL SYNDROME; MEDICAL SPECIALIST; MUCOCILIARY CLEARANCE; NONHUMAN; PATIENT MONITORING; PHENOTYPE; PHYSIOTHERAPY; POSTURAL DRAINAGE; PRIMARY CILIARY DYSKINESIA; PROGNOSIS; RETINA DISEASE; REVIEW; RFX3 GENE; RSPH4A GENE; RSPH9 GENE; SCREENING TEST; SENIOR LOKEN SYNDROME; SIGNAL TRANSDUCTION; SLEEP DISORDERED BREATHING; TXND3 GENE; UPPER RESPIRATORY TRACT; ZEBRA FISH;

EID: 84870975702     PISSN: 17476348     EISSN: 17476356     Source Type: Journal    
DOI: 10.1586/ers.12.60     Document Type: Review

References (222)

1. Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk 83, 498-501 (1933).
2. Siewert AK. Ueber einen Fall von Bronchiectasie bei einem Patienten mit Situs inversus viscerum. Berliner klinische Wochenschrift 41, 139-141 (1904).
3. Afzelius BA. A human syndrome caused by immotile cilia. Science 193(4250), 317-319 (1976).
4. Barbato A, Frischer T, Kuehni CE et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur. Respir. J. 34(6), 1264-1276 (2009).
5. Kuehni CE, Frischer T, Strippoli MP et al.; ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur. Respir. J. 36(6), 1248-1258 (2010).
6. Strippoli MP, Frischer T, Barbato A et al.; ERS Task Force on Primary Ciliary Dyskinesia in Children. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. Eur. Respir. J. 39(6), 1482-1491 (2012).
7. Davis SD, Knowles M, Leigh M. Introduction: primary ciliary dyskinesia and overlapping syndromes. Proc. Am. Thorac. Soc. 8(5), 421-422 (2011).
8. Ostrowski LE, Dutcher SK, Lo CW. Cilia and models for studying structure and function. Proc. Am. Thorac. Soc. 8(5), 423-429 (2011).
9. Zariwala MA, Omran H, Ferkol TW. The emerging genetics of primary ciliary dyskinesia. Proc. Am. Thorac. Soc. 8(5), 430-433 (2011).
10. Leigh MW, O'Callaghan C, Knowles MR. The challenges of diagnosing primary ciliary dyskinesia. Proc. Am. Thorac. Soc. 8(5), 434-437 (2011).
11. Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc. Am. Thorac. Soc. 8(5), 438-443 (2011).
12. Ware SM, Aygun MG, Hildebrandt F. Spectrum of clinical diseases caused by disorders of primary cilia. Proc. Am. Thorac. Soc. 8(5), 444-450 (2011).
13. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N. Engl. J. Med. 364(16), 1533-1543 (2011).
14. Ferkol TW, Leigh MW. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J. Pediatr. 160(3), 366-371 (2012).
15. Flight WG, Jones AM. Cystic fibrosis, primary ciliary dyskinesia and non-cystic fibrosis bronchiectasis: update 2008-11. Thorax 67(7), 645-649(2012).
16. Piperno G, Huang B, Luck DJ. Twodimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii. Proc. Natl Acad. Sci. USA 74(4), 1600-1604 (1977). (Pubitemid 8086203)
17. Luck DJ. Genetic and biochemical dissection of the eucaryotic flagellum. J. Cell Biol. 98(3), 789-794 (1984). (Pubitemid 14166507)
18. Fliegauf M, Olbrich H, Horvath J et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am. J. Respir. Crit. Care Med. 171(12), 1343-1349 (2005). (Pubitemid 40800505)
19. Hoyer-Fender S. Centriole maturation and transformation to basal body. Semin. Cell Dev. Biol. 21(2), 142-147 (2010).
20. Chilvers MA, O'Callaghan C. Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods. Thorax 55(4), 314-317 (2000). (Pubitemid 30248802)
21. Kozminski KG, Johnson KA, Forscher P, Rosenbaum JL. A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc. Natl Acad. Sci. USA 90(12), 5519-5523 (1993). (Pubitemid 23176192)
22. Bisgrove BW, Yost HJ. The roles of cilia in developmental disorders and disease. Development 133(21), 4131-4143 (2006). (Pubitemid 44830657)
23. Armengot M, Salom D, Diaz-Llopis M et al. Nasal ciliary beat frequency and beat pattern in retinal ciliopathies. Invest. Ophthalmol. Vis. Sci. 53(4), 2076-2079 (2012).
24. Sinden RE, Canning EU, Spain B. Gametogenesis and fertilization in Plasmodium yoelii nigeriensis: a transmission electron microscope study. Proc. R. Soc. Lond. B, Biol. Sci. 193(1110), 55-76 (1976).
25. Cardenas-Rodriguez M, Badano JL. Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am. J. Med. Genet. C. Semin. Med. Genet. 151C(4), 263-280 (2009).
26. Satir P, Christensen ST. Overview of structure and function of mammalian cilia. Annu. Rev. Physiol. 69, 377-400 (2007). (Pubitemid 46457649)
27. Munro NC, Currie DC, Lindsay KS et al. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 49(7), 684-687 (1994). (Pubitemid 24219146)
28. Shah AS, Ben-Shahar Y, Moninger TO, Kline JN, Welsh MJ. Motile cilia of human airway epithelia are chemosensory. Science 325(5944), 1131-1134 (2009).
29. Bloodgood RA. Sensory reception is an attribute of both primary cilia and motile cilia. J. Cell. Sci. 123(Pt 4), 505-509 (2010).
30. Nonaka S, Shiratori H, Saijoh Y, Hamada H. Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 418(6893), 96-99 (2002). (Pubitemid 34742578)
31. Pedersen LB, Veland IR, Schroøder JM, Christensen ST. Assembly of primary cilia. Dev. Dyn. 237(8), 1993-2006 (2008).
32. Colantonio JR, Vermot J, Wu D et al. The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. Nature 457(7226), 205-209 (2009).
33. Lancaster MA, Gleeson JG. The primary cilium as a cellular signalling centre: lessons from disease. Curr. Opin. Genet. Dev. 19, 220-229 (2009).
34. Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43(8), 776-784 (2011).
35. Dowdle WE, Robinson JF, Kneist A et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 89(1), 94-110 (2011).
36. Vincensini L, Blisnick T, Bastin P. 1001 model organisms to study cilia and flagella. Biol. Cell 103(3), 109-130 (2011).
37. DiPetrillo CG, Smith EF. Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. J. Cell Biol. 189(3), 601-612 (2010).
38. Delaval B, Covassin L, Lawson ND, Doxsey S. Centrin depletion causes cyst formation and other ciliopathy-related phenotypes in zebrafish. Cell Cycle 10(22), 3964-3972 (2011).
39. Viera JP, Lopes P, Silva R. Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis. J. Child Neurol. 27(7), 938-941(2012).
40. Yuan S, Li J, Diener DR, Choma MA, Rosenbaum JL, Sun Z. Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation. Proc. Natl Acad. Sci. USA 109(6), 2021-2026 (2012).
41. DiBella LM, Park A, Sun Z. Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Hum. Mol. Genet. 18(4), 595-606 (2009).
42. Avasthi P, Marley A, Lin H et al. A chemical screen identifies class a g-protein coupled receptors as regulators of cilia. ACS Chem. Biol. 7(5), 911-919 (2012).
43. Kobayashi Y, Watanabe M, Okada Y et al. Hydrocephalus, situs inversus, chronic sinusitis and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Mol. Cell Biol. 22, 2769-2776 (2001). (Pubitemid 34262997)
44. Tan SY, Rosenthal J, Zhao XQ et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J. Clin. Invest. 117(12), 3742-3752 (2007). (Pubitemid 350224085)
45. Ostrowski LE, Yin W, Rogers TD et al. Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am. J. Respir. Cell Mol. Biol. 43(1), 55-63 (2010).
46. Ohgami RS, Campagna DR, Antiochos B et al. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood 106(10), 3625-3631 (2005). (Pubitemid 41609203)
47. Lee L, Campagna DR, Pinkus JL et al. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol. Cell. Biol. 28(3), 949-957 (2008). (Pubitemid 351160051)
48. Lucas JS, Adam EC, Goggin PM et al. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Hum. Mutat. 33(3), 495-503 (2012).
49. Kunimoto K, Yamazaki Y, Nishida T et al. Coordinated ciliary beating requires Odf2-mediated polarization of basal bodies via basal feet. Cell 148(1-2), 189-200 (2012).
50. Phirke P, Efimenko E, Mohan S et al. Transcriptional profiling of C. elegans DAF-19 uncovers a ciliary base-associated protein and a CDK/CCRK/LF2p-related kinase required for intraflagellar transport. Dev. Biol. 357(1), 235-247 (2011).
51. Konno A, Setou M, Ikegami K. Ciliary and flagellar structure and function-their regulations by posttranslational modifications of axonemal tubulin. Int. Rev. Cell Mol. Biol. 294, 133-170 (2012).
52. Ishikawa H, Thompson J, Yates JR 3rd, Marshall WF. Proteomic analysis of mammalian primary cilia. Curr. Biol. 22(5), 414-419 (2012).
53. Mizuno N, Taschner M, Engel BD, Lorentzen E. Structural studies of ciliary components. J. Mol. Biol. 422(2), 163-180 (2012).
54. Kim J, Lee JE, Heynen-Genel S et al. Functional genomic screen for modulators of ciliogenesis and cilium length. Nature 464(7291), 1048-1051 (2010).
55. Castellani C, Cuppens H, Macek M Jr et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 7(3), 179-196 (2008).
56. Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N. Engl. J. Med. 347(6), 401-407 (2002). (Pubitemid 34851832)
57. Duquesnoy P, Escudier E, Vincensini L et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am. J. Hum. Genet. 85(6), 890-896 (2009).
58. Loges NT, Olbrich H, Becker-Heck A et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am. J. Hum. Genet. 85(6), 883-889 (2009).
59. Omran H, Kobayashi D, Olbrich H et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 456(7222), 611-616 (2008).
60. van Rooijen E, Giles RH, Voest EE, van Rooijen C, Schulte-Merker S, van Eeden FJ. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. J. Am. Soc. Nephrol. 19(6), 1128-1138 (2008).
61. Doan ML, Guillerman RP, Dishop MK et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 63(4), 366-373 (2008). (Pubitemid 351497952)
62. Peca D, Petrini S, Tzialla C et al. Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. Respir. Res. 12, 115 (2011).
63. Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr. 91(6), 667-669 (2002). (Pubitemid 34779328)
64. Knowles MR, Leigh MW, Carson JL et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 67(5), 433-441(2012).
65. Bartoloni L, Blouin JL, Pan Y et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc. Natl Acad. Sci. USA 99(16), 10282-10286 (2002).
66. Schwabe GC, Hoffmann K, Loges NT et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum. Mutat. 29(2), 289-298 (2008). (Pubitemid 351240602)
67. Pifferi M, Michelucci A, Conidi ME et al. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur. Respir. J. 35(6), 1413-1416 (2010).
68. Hornef N, Olbrich H, Horvath J et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am. J. Respir. Crit. Care Med. 174(2), 120-126 (2006). (Pubitemid 44015384)
69. Mazor M, Alkrinawi S, Chalifa-Caspi V et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am. J. Hum. Genet. 88(5), 599-607 (2011).
70. Zietkiewicz E, Nitka B, Voelkel K et al. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir. Res. 11, 174 (2010).
71. Failly M, Saitta A, Muñoz A et al. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 76(2), 198-204 (2008).
72. Loges NT, Olbrich H, Fenske L et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am. J. Hum. Genet. 83(5), 547-558 (2008).
73. Castleman VH, Romio L, Chodhari R et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am. J. Hum. Genet. 84(2), 197-209 (2009).
74. Zietkiewicz E, Bukowy-Bieryllo Z, Voelkel K et al. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS ONE 7(3), e33667 (2012).
75. Reish O, Slatkin M, Chapman-Shimshoni D et al. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann. Hum. Genet. 74(2), 117-125 (2010).
76. Alsaadi MM, Gaunt TR, Boustred CR et al. From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. Ann. Hum. Genet. 76(3), 211-220 (2012).
77. Becker-Heck A, Zohn IE, Okabe N et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat. Genet. 43(1), 79-84 (2011).
78. Merveille AC, Davis EE, Becker-Heck A et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat. Genet. 43(1), 72-78 (2011).
79. O'Callaghan C, Rutman A, Williams GM, Hirst RA. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required. Eur. Respir. J. 38(3), 603-607 (2011).
80. El Zein L, Ait-Lounis A, Morlé L et al. RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies. J. Cell. Sci. 122(Pt 17), 3180-3189 (2009).
81. Mitchison HM, Schmidts M, Loges NT et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat. Genet. 44(4), 381-389, S1 (2012).
82. Panizzi JR, Becker-Heck A, Castleman VH et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat. Genet. 44(6), 714-719 (2012).
83. Duriez B, Duquesnoy P, Escudier E et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc. Natl Acad. Sci. USA 104(9), 3336-3341 (2007). (Pubitemid 46364160)
84. Ikegami K, Sato S, Nakamura K, Ostrowski LE, Setou M. Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry. Proc. Natl Acad. Sci. USA 107(23), 10490-10495 (2010).
85. Davis EE, Zhang Q, Liu Q et al.; NISC Comparative Sequencing Program. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43(3), 189-196 (2011).
86. Hoefele J, Wolf MT, O'Toole JF et al. Evidence of oligogenic inheritance in nephronophthisis. J. Am. Soc. Nephrol. 18(10), 2789-2795 (2007). (Pubitemid 47531207)
87. Leitch CC, Zaghloul NA, Davis EE et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 40(4), 443-448 (2008). (Pubitemid 351450887)
88. Khanna H, Davis EE, Murga-Zamalloa CA et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat. Genet. 41(6), 739-745 (2009).
89. 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. 42(2), 175-180 (2010).
90. Roxo-Rosa M, Xu Z, Schmidt A et al. Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms. Proc. Natl Acad. Sci. USA 103(47), 17891-17896 (2006). (Pubitemid 44852256)
91. Huang B, Ramanis Z, Luck DJ. Suppressor mutations in Chlamydomonas reveal a regulatory mechanism for flagellar function. Cell 28(1), 115-124 (1982). (Pubitemid 12223314)
92. Porter ME, Knott JA, Gardner LC, Mitchell DR, Dutcher SK. Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain. J. Cell Biol. 126(6), 1495-1507 (1994). (Pubitemid 24284613)
93. Porter ME, Power J, Dutcher SK. Extragenic suppressors of paralyzed flagellar mutations in Chlamydomonas reinhardtii identify loci that alter the inner dynein arms. J. Cell Biol. 118(5), 1163-1176 (1992).
94. Heuser T, Raytchev M, Krell J, Porter ME, Nicastro D. The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella. J. Cell Biol. 187(6), 921-933 (2009).
95. Ramsey BW, Davies J, McElvaney NG et al.; VX08-770-102 Study Group. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 365(18), 1663-1672 (2011).
96. Clancy JP, Rowe SM, Accurso FJ et al. Results of a Phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67(1), 12-18 (2012).
97. Hamed SA. Drug evaluation: PTC-124 -a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs 9(11), 783-789 (2006). (Pubitemid 44756118)
98. Kerem E, Hirawat S, Armoni S et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective Phase II trial. Lancet 372(9640), 719-727 (2008).
99. Bush A, Chodhari R, Collins N et al. Primary ciliary dyskinesia: current state of the art. Arch. Dis. Child. 92(12), 1136-1140 (2007). (Pubitemid 350221463)
100. Krawczynski MR, Dmenska H, Witt M. Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss. J. Appl. Genet. 45(1), 107-110 (2004). (Pubitemid 38387890)
101. Geremek M, Witt M. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J. Appl. Genet. 45, 347-361 (2004). (Pubitemid 39273130)
102. Zito I, Downes SM, Patel RJ et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J. Med. Genet. 40(8), 609-615 (2003). (Pubitemid 37046916)
103. Iannaccone A, Breuer DK, Wang XF et al. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J. Med. Genet. 40(11), e118 (2003).
104. Moore A, Escudier E, Roger G et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J. Med. Genet. 43(4), 326-333 (2006).
105. Bush A, O'Callaghan C. Primary ciliary dyskinesia. Arch. Dis. Child. 87(5), 363-365; discussion 363 (2002).
106. O'Callaghan C, Chilvers M, Hogg C, Bush A, Lucas J. Diagnosing primary ciliary dyskinesia. Thorax 62(8), 656-657 (2007). (Pubitemid 47235001)
107. Pifferi M, Bush A, Caramella D et al. Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia. Eur. Respir. J. 37(3), 566-571 (2011).
108. Karadag B, James AJ, Gültekin E, Wilson NM, Bush A. Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur. Respir. J. 13(6), 1402-1405 (1999). (Pubitemid 29357160)
109. Pifferi M, Bush A, Maggi F et al. Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. Eur. Respir. J. 37(3), 572-577 (2011).
110. Narang I, Ersu R, Wilson NM, Bush A. Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance. Thorax 57(7), 586-589 (2002). (Pubitemid 34761759)
111. Piacentini GL, Bodini A, Peroni DG et al. Nasal nitric oxide levels in healthy pre-school children. Pediatr. Allergy Immunol. 21(8), 1139-1145 (2010).
112. Mateos-Corral D, Coombs R, Grasemann H, Ratjen F, Dell SD. Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. J. Pediatr. 159(3), 420-424 (2011).
113. Balfour-Lynn IM, Laverty A, Dinwiddie R. Reduced upper airway nitric oxide in cystic fibrosis. Arch. Dis. Child. 75(4), 319-322 (1996). (Pubitemid 26354603)
114. Thomas SR, Kharitonov SA, Scott SF, Hodson ME, Barnes PJ. Nasal and exhaled nitric oxide is reduced in adult patients with cystic fibrosis and does not correlate with cystic fibrosis genotype. Chest 117(4), 1085-1089 (2000). (Pubitemid 30228368)
115. Nakano H, Ide H, Imada M et al. Reduced nasal nitric oxide in diffuse panbronchiolitis. Am. J. Respir. Crit. Care Med. 162(6), 2218-2220 (2000). (Pubitemid 32051690)
116. De Boeck K, Proesmans M, Mortelmans L, Van Billoen B, Willems T, Jorissen M. Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia. Thorax 60(5), 414-417 (2005). (Pubitemid 40685825)
117. Marthin JK, Mortensen J, Pressler T, Nielsen KG. Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia. Chest 132(3), 966-976 (2007).
118. Stanley P, MacWilliam L, Greenstone M, Mackay I, Cole P. Efficacy of a saccharin test for screening to detect abnormal mucociliary clearance. Br. J. Dis. Chest 78(1), 62-65 (1984). (Pubitemid 14175357)
119. Deitmer T. A modification of the saccharine test for nasal mucociliary clearance. Rhinology 24(4), 237-240 (1986). (Pubitemid 17228857)
120. Armengot M, Milara J, Mata M, Carda C, Cortijo J. Cilia motility and structure in primary and secondary ciliary dyskinesia. Am. J. Rhinol. Allergy 24(3), 175-180 (2010).
121. Stannard WA, Chilvers MA, Rutman AR, Williams CD, O'Callaghan C. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am. J. Respir. Crit. Care Med. 181(4), 307-314 (2010).
122. Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J. Allergy Clin. Immunol. 112(3), 518-524 (2003). (Pubitemid 37108555)
123. Papon JF, Coste A, Roudot-Thoraval F et al. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur. Respir. J. 35(5), 1057-1063 (2010).
124. Shoemark A, Dixon M, Corrin B, Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J. Clin. Pathol. 65(3), 267-271 (2012).
125. Escudier E, Couprie M, Duriez B et al. Computer-assisted analysis helps detect inner dynein arm abnormalities. Am. J. Respir. Crit. Care Med. 166(9), 1257-1262 (2002). (Pubitemid 35222604)
126. Jorissen M, Willems T. The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia. Acta Otolaryngol. 124(4), 527-531 (2004). (Pubitemid 38797619)
127. Pifferi M, Montemurro F, Cangiotti AM et al. Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. Thorax 64(12), 1077-1081 (2009).
128. Hirst RA, Rutman A, Williams G, O'Callaghan C. Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia. Chest 138(6), 1441-1447 (2010).
129. Olbrich H, Horváth J, Fekete A et al. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatr. Res. 59(3), 418-422 (2006). (Pubitemid 43740081)
130. Omran H, Loges NT. Immunofluorescence staining of ciliated respiratory epithelial cells. Methods Cell Biol. 91, 123-133 (2009).
131. Hogg C, Bush A. Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? Thorax 67(5), 377-378 (2012).
132. Knowles MR, Leigh MW, Zariwala MA. Cutting edge genetic studies in primary ciliary dyskinesia. Thorax 67, 464 (2012).
133. Bush A, Hogg C. Editorialists reply. Thorax 67, 464 (2012).
134. Pigino G, Bui KH, Maheshwari A, Lupetti P, Diener D, Ishikawa T. Cryoelectron tomography of radial spokes in cilia and flagella. J. Cell Biol. 195(4), 673-687 (2011).
135. Nicastro D, Fu X, Heuser T, Tso A, Porter ME, Linck RW. Cryo-electron tomography reveals conserved features of doublet microtubules in flagella. Proc. Natl Acad. Sci. USA 108(42), E845-E853 (2011).
136. Pigino G, Maheshwari A, Bui KH, Shingyoji C, Kamimura S, Ishikawa T. Comparative structural analysis of eukaryotic flagella and cilia from Chlamydomonas, Tetrahymena, and sea urchins. J. Struct. Biol. 178(2), 199-206 (2012).
137. Bush A, Wallis C. Time to think again: cystic fibrosis is not an 'all or none' disease. Pediatr. Pulmonol. 30(2), 139-144 (2000).
138. Smyth AR, Barbato A, Beydon N et al. Respiratory medicines for children: current evidence, unlicensed use and research priorities. Eur. Respir. J. 35(2), 247-265 (2010).
139. Phillips GE, Thomas S, Heather S, Bush A. Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge. Eur. Respir. J. 11(6), 1389-1391 (1998). (Pubitemid 28298606)
140. Maglione M, Bush A, Montella S et al. Progression of lung disease in primary ciliary dyskinesia: is spirometry less accurate than CT? Pediatr. Pulmonol. 47(5), 498-504 (2012).
141. Green K, Buchvald FF, Marthin JK, Hanel B, Gustafsson PM, Nielsen KG. Ventilation inhomogeneity in children with primary ciliary dyskinesia. Thorax 67(1), 49-53 (2012).
142. Hadfield PJ, Rowe-Jones JM, Bush A, Mackay IS. Treatment of otitis media with effusion in children with primary ciliary dyskinesia. Clin. Otolaryngol. Allied Sci. 22(4), 302-306 (1997). (Pubitemid 28346966)
143. Majithia A, Fong J, Hariri M, Harcourt J. Hearing outcomes in children with primary ciliary dyskinesia -a longitudinal study. Int. J. Pediatr. Otorhinolaryngol. 69(8), 1061-1064 (2005). (Pubitemid 40956982)
144. Peeraer K, Nijs M, Raick D, Ombelet W. Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature. Reprod. Biomed. Online 9(6), 659-663 (2004). (Pubitemid 40028884)
145. Matsumoto Y, Goto S, Hashimoto H, Kokeguchi S, Shiotani M, Okada H. A healthy birth after intracytoplasmic sperm injection using ejaculated spermatozoa from a patient with Kartagener's syndrome. Fertil. Steril. 93(6), 2074.e17-2074.e19 (2010).
146. McLachlan RI, Ishikawa T, Osianlis T et al. Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails. Fertil. Steril. 97(2), 313-318 (2012).
147. Blyth M, Wellesley D. Ectopic pregnancy in primary ciliary dyskinesia. J. Obstet. Gynaecol. 28(3), 358 (2008). (Pubitemid 351873814)
148. Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur. Respir. J. 10(10), 2376-2379 (1997). (Pubitemid 27479564)
149. Noone PG, Leigh MW, Sannuti A et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am. J. Respir. Crit. Care Med. 169(4), 459-467 (2004). (Pubitemid 38187117)
150. Marthin JK, Petersen N, Skovgaard LT, Nielsen KG. Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. Am. J. Respir. Crit. Care Med. 181(11), 1262-1268 (2010).
151. Date H, Yamashita M, Nagahiro I, Aoe M, Andou A, Shimizu N. Living-donor lobar lung transplantation for primary ciliary dyskinesia. Ann. Thorac. Surg. 71(6), 2008-2009 (2001). (Pubitemid 32554440)
152. Schertler T, Lardinois D, Boehm T, Weder W, Wildermuth S, Alkadhi H. Lung transplantation in Kartagener syndrome and situs inversus: potential of multidetector row computed tomography and three-dimensional postprocessing. J. Thorac. Cardiovasc. Surg. 134(3), 814-815 (2007). (Pubitemid 47301976)
153. Brown DE, Pittman JE, Leigh MW, Fordham L, Davis SD. Early lung disease in young children with primary ciliary dyskinesia. Pediatr. Pulmonol. 43(5), 514-516 (2008). (Pubitemid 351657321)
154. Engesaeth VG, Warner JO, Bush A. New associations of primary ciliary dyskinesia syndrome. Pediatr. Pulmonol. 16(1), 9-12 (1993).
155. Kennedy MP, Omran H, Leigh MW et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 115(22), 2814-2821 (2007). (Pubitemid 46869667)
156. Nakhleh N, Francis R, Giese RA et al. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 125(18), 2232-2242 (2012).
157. Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am. J. Med. Genet. C. Semin. Med. Genet. 151C(4), 296-306 (2009).
158. Gunay-Aygun M, Turkbey BI, Bryant J et al. Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol. Genet. Metab. 104(4), 677-681 (2011).
159. Driscoll JA, Bhalla S, Liapis H, Ibricevic A, Brody SL. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 133(5), 1181-1188 (2008). (Pubitemid 351685524)
160. Leigh MW, Pittman JE, Carson JL et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet. Med. 11(7), 473-487 (2009).
161. Waters AE, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr. Nephrol. 26(7):1039-1056 (2011).
162. Brancati F, Iannicelli M, Travaglini L et al.; International JSRD Study Group. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. Hum. Mutat. 30(2), E432-E442 (2009).
163. Siemiatkowska AM, Arimadyo K, Moruz LM et al. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol. Vis. 17, 3013-3024 (2011).
164. Schwarz N, Novoselova TV, Wait R, Hardcastle AJ, Cheetham ME. The X-linked retinitis pigmentosa protein RP2 facilitates G-protein traffic. Hum. Mol. Genet. 21(4), 863-873 (2012).
165. Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB. Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients. Neurosci. Lett. 500(1), 16-19 (2011).
166. Hosch J, Lorenz B, Stieger K. RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy. Ophthalmic Genet. 32(1), 1-11 (2011).
167. Holopainen JM, Cheng CL, Molday LL et al. Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. Biochemistry 49(35), 7439-7447 (2010).
168. Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol. Vis. 16, 1373-1381 (2010).
169. Zhou Q, Lenger C, Smith R et al. Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. Mol. Vis. 18, 1379-1383 (2012).
170. Fakin A, Zupan A, Glavač D, Hawlina M. Combination of retinitis
171. Wessels MW, den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat. Diagn. 23(3), 239-242 (2003). (Pubitemid 36323686)
172. Ibañez-Tallon I, Gorokhova S, Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum. Mol. Genet. 11(6), 715-721 (2002). (Pubitemid 34285143)
173. Kosaki K, Ikeda K, Miyakoshi K et al. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am. J. Med. Genet. A 129A(3), 308-311 (2004). (Pubitemid 39166200)
174. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat. Rev. Mol. Cell Biol. 8(11), 880-893 (2007). (Pubitemid 47622564)
175. Helou J, Otto EA, Attanasio M et al. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loøken syndrome. J. Med. Genet. 44(10), 657-663 (2007). (Pubitemid 47584761)
176. Valente EM, Silhavy JL, Brancati F et al.; International Joubert Syndrome Related Disorders Study Group. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38(6), 623-625 (2006). (Pubitemid 43927302)
177. Baala L, Romano S, Khaddour R et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am. J. Hum. Genet. 80(1), 186-194 (2007). (Pubitemid 46055178)
178. Feather SA, Winyard PJ, Dodd S, Woolf AS. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Nephrol. Dial. Transplant. 12(7), 1354-1361 (1997). (Pubitemid 27353023)
179. Ferrante MI, Zullo A, Barra A et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat. Genet. 38(1), 112-117 (2006). (Pubitemid 43011891)
180. O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am. J. Kidney Dis. 27(6), 776-783 (1996). (Pubitemid 26169028)
181. Barakat AJ, Arianas P, Glick AD, Butler MG. Focal sclerosing glomerulonephritis in a child with Laurence-Moon-Biedl syndrome. Child Nephrol. Urol. 10(2), 109-111 (1990). (Pubitemid 20335550)
182. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J. Med. Genet. 36(6), 437-446 (1999). (Pubitemid 29267741)
183. Katsanis M, Beales PI, Woods MO et al. Mutations in MKSS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat. Genet. 26, 67-70 (2000).
184. Collin GB, Marshall JD, Ikeda A et al. Mutations in ALMS1 cause obesity, Type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat. Genet. 31(1), 74-78 (2002).
185. Knorz VJ, Spalluto C, Lessard M et al. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol. Biol. Cell 21(21), 3617-3629 (2010).
186. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am. J. Med. Genet. A 155A(5), 1021-1032 (2011).
187. Tüysüz B, Baris S, Aksoy F, Madazli R, Ungür S, Sever L 13. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Am. J. Med. Genet. A 149A(8) 1727-1733 (2009).
188. de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur. J. Pediatr. 169(1), 77-88 (2010).
189. Davis JT, Long FR, Adler BH, Castile RG, Weinstein S. Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation. Ann. Thorac. Surg. 77(2), 445-448 (2004). (Pubitemid 38186486)
190. Andrade CF, Cardoso PF, Felicetti JC. Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy. Thorac. Cardiovasc. Surg. 59(1), 56-58 (2011).
191. Oberklaid F, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on ten patients. Arch. Dis. Child. 52(10), 758-765 (1977). (Pubitemid 8218796)
192. Rahmani R, Sterling CL, Bedford HM. Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. J. Clin. Ultrasound 40(4), 222-226 (2012).
193. Barnes EG, Opitz M. Renal abnormalities in malformation syndromes. In: Pediatric Kidney Disease. (2nd Edition). Edelmann CM Jr, Bernstein J, Meadow SR, Spitzer A, Travis LB (Eds). Boston, USA, 1067-1119 (1992).
194. Singh M, Ray D, Paul VK, Kumar A. Hydrocephalus in asphyxiating thoracic dystrophy. Am. J. Med. Genet. 29(2), 391-395 (1988). (Pubitemid 18068265)
195. Phillips CI, Stokoe NL, Bartholomew RS. Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. J. Pediatr. Ophthalmol. Strabismus 16(5), 279-283 (1979). (Pubitemid 9253793)
196. Hudgins L, Rosengren S, Treem W, Hyams J. Early cirrhosis in survivors with Jeune thoracic dystrophy. J. Pediatr. 120(5), 754-756 (1992).
197. Beales PL, Bland E, Tobin JL et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat. Genet. 39(6), 727-729 (2007). (Pubitemid 46848589)
198. Hall T, Bush A, Fell J, Offiah A, Smith V, Abel R. Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation. Pediatr. Pulmonol. 44(2), 198-201 (2009).
199. Rix S, Calmont A, Scambler PJ, Beales PL. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum. Mol. Genet. 20(7), 1306-1314 (2011).
200. Dagoneau N, Goulet M, Geneviève D et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short ribpolydactyly syndrome, type III. Am. J. Hum. Genet. 84(5), 706-711 (2009).
201. Merrill AE, Merriman B, Farrington-Rock C et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am. J. Hum. Genet. 84(4), 542-549 (2009).
202. Perrault I, Saunier S, Hanein S et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90(5), 864-870 (2012).
203. Brueton LA, Dillon MJ, Winter RM. Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? J. Med. Genet. 27(4), 252-255 (1990).
204. Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME et al. EvC is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development 134(16), 2903-2912 (2007). (Pubitemid 47386903)
205. Ruiz-Perez VL, Ide SE, Strom TM et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet. 24(3), 283-286 (2000). (Pubitemid 30132199)
206. Galdzicka M, Patnala S, Hirshman MG et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol. Genet. Metab. 77(4), 291-295 (2002). (Pubitemid 36027135)
207. Walczak-Sztulpa J, Eggenschwiler J, Osborn D et al. Cranioectodermal dysplasia, sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am. J. Hum. Genet. 86(6), 949-956 (2010).
208. Gilissen C, Arts HH, Hoischen A et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am. J. Hum. Genet. 87(3), 418-423 (2010).
209. Lehman AM, Eydoux P, Doherty D et al. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am. J. Med. Genet. A 152A(6), 1411-1419 (2010).
210. 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 155A(12), 3042-3049 (2011).
211. Mok CA, Héon E, Zhen M. Ciliary dysfunction and obesity. Clin. Genet. 77(1), 18-27 (2010).
212. den Hollander AI, Koenekoop RK, Yzer S et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79(3), 556-561 (2006). (Pubitemid 44384265)
213. Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290 base. Hum. Mutat. 31(10), 1097-1108 (2010).
214. Bredrup C, Saunier S, Oud MM et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89(5), 634-643 (2011).
215. Pazour GJ, Agrin N, Lezyk J, Witman GB. Proteomic analysis of a eukaryotic cilium. J. Cell Biol. 170, 103-113 (2005). (Pubitemid 40994100)
216. Lechtreck K-F, Delmotte P, Robinson ML, Sanderson MJ, Witman GB. Mutations in hydin impair ciliary motility in mice. J. Cell Biol. 180, 633-643 (2008). (Pubitemid 351240709)
217. Dawe HR, Shaw MK, Farr H, Gull K. The hydrocephalus inducing gene product, hydin, positions axonemal central pair microtubules. BMC Biol. 5, 33 (2007).
218. Olbrich H, Schmidts M, Werner C et al. Recessive hydin mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am. J. Hum. Genet. 91, 672-684 (2012).
219. Kott E, Duquesnoy P, Copin B et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am. J. Hum. Genet. 91, 958-964 (2012).
220. Burgoyne T, Dixon M, Luther P, Hogg C, Shoemark A. Generation of a three dimensional ultrastructural model of human respiratory cilia. Am. J. Mol. Cell Biol. doi:10.1165/rcmb.2011-0440OC (2012) (Epub ahead of print).
221. Shoemark A, Hogg C. Basic science for the chest physician. Electron tomography of respiratory cilia. Thorax (2012) (In Press).
222. Pifferi M, BushA, Pioggia G et al. Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. Thorax 67, 993-999 (2012).