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Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

By Joseph H. Sisson, MD; and Johnny L. Carson, PhD

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References

  1. Kroon AA, Heij JM, Kuijper WA, et al. Function and morphology of respiratory cilia in situs inversus. Clin Otolaryngol 1991; 16:294–297
  2. Goodenough UW, Heuser JE. Substructure of inner dynein arms, radial spokes, and the central pair/projection complex of cilia and flagella. J Cell Biol 1985; 100:2008–2018
  3. Goodenough UW, Heuser JE. Substructure of the outer dynein arm. J Cell Biol 1982; 95:798–815
  4. Warner FD, Zanetti NC. Properties of microtubule sliding disintegration in isolated Tetrahymena cilia. J Cell Biol 1980; 86:436–445
  5. Goodenough UW. Motile detergent-extracted cells of Tetrahymena and Chlamydomonas. J Cell Biol 1983; 96:1610–1621
  6. Dirksen ER, Zeira M. Microtubule sliding in cilia of the rabbit trachea and oviduct. Cell Motil 1981; 1:247–260
  7. Dustin P. Microtubules. Berlin, Germany: Springer-Verlag, 1978; 452
  8. L’Hernault SW, Rosenbaum JL. Chlamydomonas alpha-tubulin is posttranslationally modified by acetylation on the epsilon-amino group of a lysine. Biochemistry 1985; 24:473–478
  9. Stephens RE. Tubulin in sea urchin embryonic cilia: post-translational modifications during regeneration. J Cell Sci 1992; 101:837–845
  10. King SM. The dynein microtubule motor. Biochim Biophys Acta 2000; 1496:60–75
  11. Porter ME, Knott JA, Myster SH, et al. The dynein gene family in Chlamydomonas reinhardtii. Genetics 1996; 144:569–585
  12. Chapelin C, Duriez B, Magnino F, et al. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett 1997; 412:325–330
  13. Neesen J, Koehler MR, Kirschner R, et al. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene 1997; 200:193–202
  14. Siewert A. Über einen Fall von Bronchiektasie bei einem Patientem mit Situs inversus viscerum. Berlin Klin Wochenschr 1904; 41:139–141
  15. Kartagener M. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beitr Klin Tuberk 1933; 83:489–501
  16. Afzelius BA. A human syndrome caused by immotile cilia. Science 1976; 193:317–319
  17. Pedersen M, Mygind N. Ciliary motility in the “immotile cilia syndrome”: first results of microphoto-oscillographic studies. Br J Dis Chest 1980; 74:239–244
  18. Sturgess JM, Chao J, Wong J, et al. Cilia with defective radial spokes: a cause of human respiratory disease. N Engl J Med 1979; 300:53–56
  19. Sturgess JM, Chao J, Turner JA. Transposition of ciliary microtubules: another cause of impaired ciliary motility. N Engl J Med 1980; 303:318–322
  20. Schneeberger EE, McCormack J, Issenberg HJ, et al. Heterogeneity of ciliary morphology in the immotile-cilia syndrome in man. J Ultrastruct Res 1980; 73:34–43
  21. Sleigh MA. Primary ciliary dyskinesia. Lancet 1981; 2:476
  22. Rutland J, de Iongh RU. Random ciliary orientation: a cause of respiratory tract disease. N Engl J Med 1990; 323:1681–1684
  23. Piperno G, Huang B, Luck DJ. Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii. Proc Natl Acad Sci USA 1977; 74:1600–1604
  24. Huang B, Piperno G, Ramanis Z, et al. Radial spokes of Chlamydomonas flagella: genetic analysis of assembly and function. J Cell Biol 1981; 88:80–88
  25. Kamiya R, Okamoto M. A mutant of Chlamydomonas reinhardtii that lacks the flagellar outer dynein arm but can swim. J Cell Sci 1985; 74:181–191
  26. Sleigh MA. Kartagener’s syndrome, ciliary defects and ciliary function. Eur J Respir Dis Suppl 1983; 127:157–161
  27. Noone PG, Zariwala M, Sannuti A, et al. Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia. Chest 2002; 121(3 suppl):97S
  28. Zariwala M, Noone PG, Sannuti A, et al. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. Am J Respir Cell Mol Biol 2001; 25:577–583
  29. Pennarun G, Escudier E, Chapelin C, et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 1999; 65:1508–1519
  30. Pennarun G, Chapelin C, Escudier E, et al. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Hum Genet 2000; 107:642–649
  31. Ibanez-Tallon I, Gorokhova S, Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet 2002; 11:715–721
  32. Olbrich H, Haffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002; 30:143–144
  33. Omran H, Haffner K, Volkel A, et al. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am J Respir Cell Mol Biol 2000; 23:696–702
  34. Zhang YJ, O’Neal WK, Randell SH, et al. Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. J Biol Chem 2002; 277:17906–17915
  35. 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 2002; 99:10282–10286
  36. Pan Y, McCaskill CD, Thompson KH, et al. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 1998; 62:1551–1555
  37. Pennarun G, Bridoux AM, Escudier E, et al. Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella. Am J Respir Cell Mol Biol 2002; 26:362–370
  38. Eriksson M, Ansved T, Anvret M, et al. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. Biochem Biophys Res Commun 2001; 281:835–841
  39. Bartoloni L, Blouin JL, Maiti AK, et al. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics 2001; 72:21–33
  40. Brody SL, Yan XH, Wuerffel MK, et al. Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice. Am J Respir Cell Mol Biol 2000; 23:45–51
  41. Maiti AK, Bartoloni L, Mitchison HM, et al. No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). Cytogenet Cell Genet 2000; 90:119–122
  42. Camner P, Mossberg B, Afzelius BA. Measurements of tracheobronchial clearance in patients with immotile- cilia syndrome and its value in differential diagnosis. Eur J Respir Dis Suppl 1983; 127:57–63
  43. Ruusa J, Svartengren M, Philipson K, et al. Tracheobronchial particle deposition and clearance in immotile cilia syndrome patients. J Aerosol Med 1993; 6:89–98
  44. Noone PG, Bennett WD, Regnis JA, et al. Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia. Am J Respir Crit Care Med 1999; 160:144–149
  45. Munro NC, Currie DC, Lindsay KS, et al. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 1994; 49:684–687
  46. Cayan S, Conaghan J, Schriock ED, et al. Birth after intracytoplasmic sperm injection with use of testicular sperm from men with Kartagener/immotile cilia syndrome. Fertil Steril 2001; 76:612–614
  47. Kay VJ, Irvine DS. Successful in-vitro fertilization pregnancy with spermatozoa from a patient with Kartagener’s syndrome: case report. Hum Reprod 2000; 15:135–138
  48. Afzelius BA, Eliasson R. Male and female infertility problems in the immotile-cilia syndrome. Eur J Respir Dis Suppl 1983; 127:144–147
  49. Canciani M, Barlocco EG, Mastella G, et al. The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia. Pediatr Pulmonol 1988; 5:210–214
  50. Armengot M, Juan G, Barona R, et al. Immotile cilia syndrome: nasal mucociliary function and nasal ciliary abnormalities. Rhinology 1994; 32:109–111
  51. Regnis JA, Zeman KL, Noone PG, Knowles MR, Bennett WD. Prolonged airway retention of insoluble particles in cystic fibrosis versus primary ciliary dyskinesia. Exp Lung Res 2000; 26:149-162
  52. Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation. Pediatr Allergy Immunol 2001; 12:274–282
  53. Moncada S, Palmer RM, Higgs EA. Nitric oxide: physiology, pathophysiology, and pharmacology. Pharmacol Rev 1991; 43:109–142
  54. Jain B, Rubinstein I, Robbins RA, et al. Modulation of airway epithelial cell ciliary beat frequency by nitric oxide. Biochem Biophys Res Commun 1993; 191:83–88
  55. Lundberg JO, Weitzberg E, Nordvall SL, et al. Primarily nasal origin of exhaled nitric oxide and absence in Kartagener’s syndrome. Eur Respir J 1994; 7:1501–1504
  56. Larj M, Hazucha MJ, Sannuti A, et al. Levels of nasal nitric oxide are reduced in conjunction with genetic mutations associated with primary ciliary dyskinesia (PCD) [abstract]. Am J Respir Crit Care Med 2001; 163:A537
  57. Kobzik L, Bredt DS, Lowenstein CJ, et al. Nitric oxide synthase in human and rat lung: immunocytochemical and histochemical localization. Am J Respir Cell Mol Biol 1993; 9:371–377
    58. Furukawa K, Harrison DG, Saleh D, et al. Expression of nitric oxide synthase in the human nasal mucosa. Am J Respir Crit Care Med 1996; 153:847–850
  58. Grasemann H, Gartig SS, Wiesemann HG, et al. Effect of L-arginine infusion on airway NO in cystic fibrosis and primary ciliary dyskinesia syndrome. Eur Respir J 1999; 13:114–118
  59. Kharitonov SA, Barnes PJ. Biomarkers of some pulmonary diseases in exhaled breath. Biomarkers 2002; 7:1–32
  60. Coren ME, Meeks M, Morrison I, et al. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002; 91:667–669
  61. Takeyama K, Tamaoki J, Chiyotani A, et al. Effect of macrolide antibiotics on ciliary motility in rabbit airway epithelium in-vitro. J Pharm Pharmacol 1993; 45:756–758
  62. Tamaoki J, Takeyama K, Chiyotani A, et al. [Effect of roxithromycin on ciliary motility of rabbit tracheal epithelium in culture.] Kokyu To Junkan 1991; 39:481–485
  63. Itoh M, Kishi K, Nakamura H, et al. [A case of immotile-dyskinetic cilia syndrome responding to clenbuterol hydrochloride and azithromycin.] Nihon Kokyuki Gakkai Zasshi 2002; 40:617–621
  64. Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997; 10:2376–2379
  65. Phillips GE, Thomas S, Heather S, et al. Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge. Eur Respir J 1998; 11:1389–1391
  66. Tamalet A, Clement A, Roudot-Thoraval F, et al. Abnormal central complex is a marker of severity in the presence of partial ciliary defect. Pediatrics 2001; 108:E86
  67. Shimizu N, Date H, Yamashita M, et al. [First successful bilateral living-donor lobar lung transplantation in Japan]. Nippon Geka Gakkai Zasshi 1999; 100:806–814
  68. Date H, Yamamoto H, Yamashita M, et al. One year follow-up of the first bilateral living-donor lobar lung transplantation in Japan. Jpn J Thorac Cardiovasc Surg 2000; 48:648–651

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