Skip to main content
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 1992;85(Suppl 19):2–5.

The biochemical defect in cystic fibrosis.

A W Cuthbert 1
PMCID: PMC1295445  PMID: 1375960

Full text

PDF
2

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson M. P., Rich D. P., Gregory R. J., Smith A. E., Welsh M. J. Generation of cAMP-activated chloride currents by expression of CFTR. Science. 1991 Feb 8;251(4994):679–682. doi: 10.1126/science.1704151. [DOI] [PubMed] [Google Scholar]
  2. App E. M., King M., Helfesrieder R., Köhler D., Matthys H. Acute and long-term amiloride inhalation in cystic fibrosis lung disease. A rational approach to cystic fibrosis therapy. Am Rev Respir Dis. 1990 Mar;141(3):605–612. doi: 10.1164/ajrccm/141.3.605. [DOI] [PubMed] [Google Scholar]
  3. Boucher R. C., Stutts M. J., Knowles M. R., Cantley L., Gatzy J. T. Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation. J Clin Invest. 1986 Nov;78(5):1245–1252. doi: 10.1172/JCI112708. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cotton C. U., Stutts M. J., Knowles M. R., Gatzy J. T., Boucher R. C. Abnormal apical cell membrane in cystic fibrosis respiratory epithelium. An in vitro electrophysiologic analysis. J Clin Invest. 1987 Jan;79(1):80–85. doi: 10.1172/JCI112812. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Cuthbert A. W., Brayden D. J., Dunne A., Smyth R. L., Wallwork J. Altered sensitivity to amiloride in cystic fibrosis. Observations using cultured sweat glands. Br J Clin Pharmacol. 1990 Feb;29(2):227–234. doi: 10.1111/j.1365-2125.1990.tb03624.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Cutting G. R., Kasch L. M., Rosenstein B. J., Tsui L. C., Kazazian H. H., Jr, Antonarakis S. E. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med. 1990 Dec 13;323(24):1685–1689. doi: 10.1056/NEJM199012133232407. [DOI] [PubMed] [Google Scholar]
  7. DI SANT'AGNESE P. A., DARLING R. C., PERERA G. A., SHEA E. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease. Pediatrics. 1953 Nov;12(5):549–563. [PubMed] [Google Scholar]
  8. Duszyk M., French A. S., Man S. F. Cystic fibrosis affects chloride and sodium channels in human airway epithelia. Can J Physiol Pharmacol. 1989 Oct;67(10):1362–1365. doi: 10.1139/y89-217. [DOI] [PubMed] [Google Scholar]
  9. Gregory R. J., Cheng S. H., Rich D. P., Marshall J., Paul S., Hehir K., Ostedgaard L., Klinger K. W., Welsh M. J., Smith A. E. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature. 1990 Sep 27;347(6291):382–386. doi: 10.1038/347382a0. [DOI] [PubMed] [Google Scholar]
  10. Kerem B., Rommens J. M., Buchanan J. A., Markiewicz D., Cox T. K., Chakravarti A., Buchwald M., Tsui L. C. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. doi: 10.1126/science.2570460. [DOI] [PubMed] [Google Scholar]
  11. Knowles M. R., Church N. L., Waltner W. E., Yankaskas J. R., Gilligan P., King M., Edwards L. J., Helms R. W., Boucher R. C. A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis. N Engl J Med. 1990 Apr 26;322(17):1189–1194. doi: 10.1056/NEJM199004263221704. [DOI] [PubMed] [Google Scholar]
  12. Knowles M. R., Clarke L. L., Boucher R. C. Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis. N Engl J Med. 1991 Aug 22;325(8):533–538. doi: 10.1056/NEJM199108223250802. [DOI] [PubMed] [Google Scholar]
  13. Knowles M. R., Stutts M. J., Spock A., Fischer N., Gatzy J. T., Boucher R. C. Abnormal ion permeation through cystic fibrosis respiratory epithelium. Science. 1983 Sep 9;221(4615):1067–1070. doi: 10.1126/science.6308769. [DOI] [PubMed] [Google Scholar]
  14. Knowles M. R., Stutts M. J., Yankaskas J. R., Gatzy J. T., Boucher R. C., Jr Abnormal respiratory epithelial ion transport in cystic fibrosis. Clin Chest Med. 1986 Jun;7(2):285–297. [PubMed] [Google Scholar]
  15. Mason S. J., Paradiso A. M., Boucher R. C. Regulation of transepithelial ion transport and intracellular calcium by extracellular ATP in human normal and cystic fibrosis airway epithelium. Br J Pharmacol. 1991 Jul;103(3):1649–1656. doi: 10.1111/j.1476-5381.1991.tb09842.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Quinton P. M. Chloride impermeability in cystic fibrosis. Nature. 1983 Feb 3;301(5899):421–422. doi: 10.1038/301421a0. [DOI] [PubMed] [Google Scholar]
  17. Rich D. P., Gregory R. J., Anderson M. P., Manavalan P., Smith A. E., Welsh M. J. Effect of deleting the R domain on CFTR-generated chloride channels. Science. 1991 Jul 12;253(5016):205–207. doi: 10.1126/science.1712985. [DOI] [PubMed] [Google Scholar]
  18. Riordan J. R., Rommens J. M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J. L. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. doi: 10.1126/science.2475911. [DOI] [PubMed] [Google Scholar]
  19. Rommens J. M., Iannuzzi M. C., Kerem B., Drumm M. L., Melmer G., Dean M., Rozmahel R., Cole J. L., Kennedy D., Hidaka N. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. doi: 10.1126/science.2772657. [DOI] [PubMed] [Google Scholar]
  20. Sorscher E. J., Kirk K. L., Weaver M. L., Jilling T., Blalock J. E., LeBoeuf R. D. Antisense oligodeoxynucleotide to the cystic fibrosis gene inhibits anion transport in normal cultured sweat duct cells. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7759–7762. doi: 10.1073/pnas.88.17.7759. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES