Skip to main content
NCBI home page
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 1998;91(Suppl 34):40–49. doi: 10.1177/014107689809134s07

Pathology of pancreatic and intestinal disorders in cystic fibrosis.

M Wilschanski 1, P R Durie 1
PMCID: PMC1296372  PMID: 9709387

Full text

PDF
40

Images in this article

46Figure 6
on p.46

Selected References

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

  1. Bear C. E., Li C. H., Kartner N., Bridges R. J., Jensen T. J., Ramjeesingh M., Riordan J. R. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell. 1992 Feb 21;68(4):809–818. doi: 10.1016/0092-8674(92)90155-6. [DOI] [PubMed] [Google Scholar]
  2. Chu C. S., Trapnell B. C., Curristin S., Cutting G. R., Crystal R. G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993 Feb;3(2):151–156. doi: 10.1038/ng0293-151. [DOI] [PubMed] [Google Scholar]
  3. Clarke L. L., Grubb B. R., Yankaskas J. R., Cotton C. U., McKenzie A., Boucher R. C. Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice. Proc Natl Acad Sci U S A. 1994 Jan 18;91(2):479–483. doi: 10.1073/pnas.91.2.479. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Colledge W. H., Abella B. S., Southern K. W., Ratcliff R., Jiang C., Cheng S. H., MacVinish L. J., Anderson J. R., Cuthbert A. W., Evans M. J. Generation and characterization of a delta F508 cystic fibrosis mouse model. Nat Genet. 1995 Aug;10(4):445–452. doi: 10.1038/ng0895-445. [DOI] [PubMed] [Google Scholar]
  5. Corey M., Durie P., Moore D., Forstner G., Levison H. Familial concordance of pancreatic function in cystic fibrosis. J Pediatr. 1989 Aug;115(2):274–277. doi: 10.1016/s0022-3476(89)80082-4. [DOI] [PubMed] [Google Scholar]
  6. Couper R. T., Corey M., Moore D. J., Fisher L. J., Forstner G. G., Durie P. R. Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Pediatr Res. 1992 Aug;32(2):179–182. doi: 10.1203/00006450-199208000-00011. [DOI] [PubMed] [Google Scholar]
  7. Delaney S. J., Alton E. W., Smith S. N., Lunn D. P., Farley R., Lovelock P. K., Thomson S. A., Hume D. A., Lamb D., Porteous D. J. Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J. 1996 Mar 1;15(5):955–963. [PMC free article] [PubMed] [Google Scholar]
  8. Denning G. M., Anderson M. P., Amara J. F., Marshall J., Smith A. E., Welsh M. J. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature. 1992 Aug 27;358(6389):761–764. doi: 10.1038/358761a0. [DOI] [PubMed] [Google Scholar]
  9. FitzSimmons S. C. The changing epidemiology of cystic fibrosis. J Pediatr. 1993 Jan;122(1):1–9. doi: 10.1016/s0022-3476(05)83478-x. [DOI] [PubMed] [Google Scholar]
  10. Gabriel S. E., Brigman K. N., Koller B. H., Boucher R. C., Stutts M. J. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science. 1994 Oct 7;266(5182):107–109. doi: 10.1126/science.7524148. [DOI] [PubMed] [Google Scholar]
  11. Hamosh A., King T. M., Rosenstein B. J., Corey M., Levison H., Durie P., Tsui L. C., McIntosh I., Keston M., Brock D. J. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Am J Hum Genet. 1992 Aug;51(2):245–250. [PMC free article] [PubMed] [Google Scholar]
  12. Kerem E., Corey M., Kerem B. S., Rommens J., Markiewicz D., Levison H., Tsui L. C., Durie P. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med. 1990 Nov 29;323(22):1517–1522. doi: 10.1056/NEJM199011293232203. [DOI] [PubMed] [Google Scholar]
  13. Kerem E., Corey M., Kerem B., Durie P., Tsui L. C., Levison H. Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus. J Pediatr. 1989 May;114(5):767–773. doi: 10.1016/s0022-3476(89)80134-9. [DOI] [PubMed] [Google Scholar]
  14. 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]
  15. Kopelman H., Corey M., Gaskin K., Durie P., Weizman Z., Forstner G. Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas. Gastroenterology. 1988 Aug;95(2):349–355. doi: 10.1016/0016-5085(88)90490-8. [DOI] [PubMed] [Google Scholar]
  16. Kopelman H., Durie P., Gaskin K., Weizman Z., Forstner G. Pancreatic fluid secretion and protein hyperconcentration in cystic fibrosis. N Engl J Med. 1985 Feb 7;312(6):329–334. doi: 10.1056/NEJM198502073120601. [DOI] [PubMed] [Google Scholar]
  17. Kristidis P., Bozon D., Corey M., Markiewicz D., Rommens J., Tsui L. C., Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992 Jun;50(6):1178–1184. [PMC free article] [PubMed] [Google Scholar]
  18. Lukacs G. L., Chang X. B., Bear C., Kartner N., Mohamed A., Riordan J. R., Grinstein S. The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J Biol Chem. 1993 Oct 15;268(29):21592–21598. [PubMed] [Google Scholar]
  19. Mak V., Jarvi K. A., Zielenski J., Durie P., Tsui L. C. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet. 1997 Nov;6(12):2099–2107. doi: 10.1093/hmg/6.12.2099. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. 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]
  22. Rozmahel R., Wilschanski M., Matin A., Plyte S., Oliver M., Auerbach W., Moore A., Forstner J., Durie P., Nadeau J. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 1996 Mar;12(3):280–287. doi: 10.1038/ng0396-280. [DOI] [PubMed] [Google Scholar]
  23. Snouwaert J. N., Brigman K. K., Latour A. M., Malouf N. N., Boucher R. C., Smithies O., Koller B. H. An animal model for cystic fibrosis made by gene targeting. Science. 1992 Aug 21;257(5073):1083–1088. doi: 10.1126/science.257.5073.1083. [DOI] [PubMed] [Google Scholar]
  24. Stutts M. J., Canessa C. M., Olsen J. C., Hamrick M., Cohn J. A., Rossier B. C., Boucher R. C. CFTR as a cAMP-dependent regulator of sodium channels. Science. 1995 Aug 11;269(5225):847–850. doi: 10.1126/science.7543698. [DOI] [PubMed] [Google Scholar]
  25. Waters D. L., Dorney S. F., Gaskin K. J., Gruca M. A., O'Halloran M., Wilcken B. Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. N Engl J Med. 1990 Feb 1;322(5):303–308. doi: 10.1056/NEJM199002013220505. [DOI] [PubMed] [Google Scholar]
  26. Wilschanski M. A., Rozmahel R., Beharry S., Kent G., Li C., Tsui L. C., Durie P., Bear C. E. In vivo measurements of ion transport in long-living CF mice. Biochem Biophys Res Commun. 1996 Feb 27;219(3):753–759. doi: 10.1006/bbrc.1996.0306. [DOI] [PubMed] [Google Scholar]
  27. Wilschanski M., Zielenski J., Markiewicz D., Tsui L. C., Corey M., Levison H., Durie P. R. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr. 1995 Nov;127(5):705–710. doi: 10.1016/s0022-3476(95)70157-5. [DOI] [PubMed] [Google Scholar]
  28. Zhou L., Dey C. R., Wert S. E., DuVall M. D., Frizzell R. A., Whitsett J. A. Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR. Science. 1994 Dec 9;266(5191):1705–1708. doi: 10.1126/science.7527588. [DOI] [PubMed] [Google Scholar]
  29. Zielenski J., Tsui L. C. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet. 1995;29:777–807. doi: 10.1146/annurev.ge.29.120195.004021. [DOI] [PubMed] [Google Scholar]

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

RESOURCES