PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jrsocmedLink to Publisher's site
 
J R Soc Med. 1993; 86(Suppl 20): 7–10.
PMCID: PMC1293797

Recent advances in cystic fibrosis research.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (895K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
 

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. [PubMed]
  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. [PubMed]
  • Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. [PubMed]
  • Gregory RJ, Rich DP, Cheng SH, Souza DW, Paul S, Manavalan P, Anderson MP, Welsh MJ, Smith AE. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol Cell Biol. 1991 Aug;11(8):3886–3893. [PMC free article] [PubMed]
  • Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. J Med Genet. 1992 Aug;29(8):558–562. [PMC free article] [PubMed]
  • Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet. 1992 Jan;50(1):222–228. [PubMed]
  • Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992 Apr 1;267(13):1794–1797. [PubMed]
  • Colledge WH, Ratcliff R, Foster D, Williamson R, Evans MJ. Cystic fibrosis mouse with intestinal obstruction. Lancet. 1992 Sep 12;340(8820):680–680. [PubMed]
  • Knowles MR, Church NL, Waltner WE, Yankaskas JR, Gilligan P, King M, Edwards LJ, Helms RW, Boucher RC. 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. [PubMed]
  • McElvaney NG, Hubbard RC, Birrer P, Chernick MS, Caplan DB, Frank MM, Crystal RG. Aerosol alpha 1-antitrypsin treatment for cystic fibrosis. Lancet. 1991 Feb 16;337(8738):392–394. [PubMed]
  • Aitken ML, Burke W, McDonald G, Shak S, Montgomery AB, Smith A. Recombinant human DNase inhalation in normal subjects and patients with cystic fibrosis. A phase 1 study. JAMA. 1992 Apr 8;267(14):1947–1951. [PubMed]
  • Elborn JS, Shale DJ, Britton JR. Cystic fibrosis: current survival and population estimates to the year 2000. Thorax. 1991 Dec;46(12):881–885. [PMC free article] [PubMed]
  • Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, 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. [PubMed]
  • Borgo G, Mastella G, Gasparini P, Zorzanello A, Doro R, Pignatti PF. Pancreatic function and gene deletion F508 in cystic fibrosis. J Med Genet. 1990 Nov;27(11):665–669. [PMC free article] [PubMed]
  • Johansen HK, Nir M, Høiby N, Koch C, Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation. Lancet. 1991 Mar 16;337(8742):631–634. [PubMed]
  • Ferrari M, Colombo C, Sebastio G, Castiglione O, Quattrucci S, Dallapiccola B, Leoni G, Zanda M, Romano L, Devoto M. Cystic fibrosis patients with liver disease are not genetically distinct. Am J Hum Genet. 1991 Apr;48(4):815–816. [PubMed]
  • Santis G, Osborne L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet. 1990 Nov 3;336(8723):1081–1084. [PubMed]
  • Santis G, Osborne L, Knight RA, Hodson ME. Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis. Lancet. 1990 Jun 16;335(8703):1426–1429. [PubMed]
  • Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Jr, Antonarakis SE. 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. [PubMed]
  • Cheadle J, al-Jader L, Goodchild M, Meredith AL. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J Med Genet. 1992 Aug;29(8):597–597. [PMC free article] [PubMed]
  • Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J. A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Med Genet. 1991 Oct;28(10):715–717. [PMC free article] [PubMed]
  • McColley SA, Rosenstein BJ, Cutting GR. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child. 1991 Jan;145(1):94–97. [PubMed]
  • Campbell PW, 3rd, Parker RA, Roberts BT, Krishnamani MR, Phillips JA., 3rd Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion. J Pediatr. 1992 Feb;120(2 Pt 1):261–264. [PubMed]
  • Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch RH. Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm. N Engl J Med. 1990 Dec 27;323(26):1788–1792. [PubMed]
  • Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR. Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland. Nat Genet. 1992 Aug;1(5):321–327. [PubMed]
  • Dorin JR, Dickinson P, Alton EW, Smith SN, Geddes DM, Stevenson BJ, Kimber WL, Fleming S, Clarke AR, Hooper ML, et al. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature. 1992 Sep 17;359(6392):211–215. [PubMed]
  • Snouwaert JN, Brigman KK, Latour AM, Malouf NN, Boucher RC, Smithies O, Koller BH. An animal model for cystic fibrosis made by gene targeting. Science. 1992 Aug 21;257(5073):1083–1088. [PubMed]
  • Tizzano EF, Buchwald M. Cystic fibrosis: beyond the gene to therapy. J Pediatr. 1992 Mar;120(3):337–349. [PubMed]
  • Rosenfeld MA, Yoshimura K, Trapnell BC, Yoneyama K, Rosenthal ER, Dalemans W, Fukayama M, Bargon J, Stier LE, Stratford-Perricaudet L, et al. In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell. 1992 Jan 10;68(1):143–155. [PubMed]
  • App EM, 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. [PubMed]
  • Meyer KC, Lewandoski JR, Zimmerman JJ, Nunley D, Calhoun WJ, Dopico GA. Human neutrophil elastase and elastase/alpha 1-antiprotease complex in cystic fibrosis. Comparison with interstitial lung disease and evaluation of the effect of intravenously administered antibiotic therapy. Am Rev Respir Dis. 1991 Sep;144(3 Pt 1):580–585. [PubMed]
  • Beverley DW, Kelleher J, MacDonald A, Littlewood JM, Robinson T, Walters MP. Comparison of four pancreatic extracts in cystic fibrosis. Arch Dis Child. 1987 Jun;62(6):564–568. [PMC free article] [PubMed]
  • Wilmott RW, Tyson SL, Dinwiddie R, Matthew DJ. Survival rates in cystic fibrosis. Arch Dis Child. 1983 Oct;58(10):835–836. [PMC free article] [PubMed]

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