Pathology of pancreatic and intestinal disorders in cystic fibrosis

Welsh M.J. , Tsui L-C , Boat T.F. , Beaudet A.L. Cystic Fibrosis. In: Scriver C.L. , Beaudet A.L. , Sly W.S. , Vallc D. , eds. The Metabolic Basis of Inherited Disease, 7th edn. New York: McGraw Hill, 1995: 3799-876.

Fitzimmons S.C. The changing epidemiology of cystic fibrosis. J Pediatr 1993; 122: 1-9.

Quinton P.M. Missing chloride conductance in cystic fibrosis. Am J Physiol 1986; 251: C49-52.

Knowles M.R. , Stutts M.J. , Spock N. , Fischer N. , Carson J.L. , Gatzy J.T. Abnormal ion permeation through cystic fibrosis respiratory epithelium. Science 1983; 221: 1067-70.

Chinet T.C. , Fullton J.M. , Yankaskas R.C. , Stutts M.J. Mechanism of sodium hyperabsorption in cultured cystic fibrosis epithelium: a patch-clamp study. Am J Physiol 1994; 266(4 Pt 1): C1061-8.

Stutts M.J. , Canessa C.M. , Olsen J.C. , Hamrick M. , Cohn J.A. , Rossier B.C. CFTR as a cAMP-dependant regulator of sodium channels. Science 1995; 269: 847-50.

Kopelman H. , Corey M. , Gaskin R. , 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; 95: 349-55.

Kopelman H. , Durie P. , Gaskin K. , Weizman Z. , Forstner G. Pancreatic fluid secretion and protein hyperconcentration in cystic fibrosis. N Engl J Med 1985; 312: 329-34.

Rommens J.M. , Ianuzzi M.C. , Kerem B-S CF gene: identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245: 1059-65.

Riordan J.R. , Rommens J.M. , Kerem B-S Identification of the cystic fibrosis gene: cloning and characterization of complimentary DNA. Science 1989; 245: 1066-73.

Kerem B-S , Rommens J.M. , Buchanan J.A. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-80.

Bear C.E. , Li C. , Kartner L. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator. Cell 1992; 68: 809-18.

Kerem E. , Corey M. , Kerem B. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation ($DLF508). N Eng J Med 1990; 323: 1517-22.

Zielenski J. , Tsui L-C. Cystic fibrosis: Genotype and phenotypic variations. Anna Rev Genetics 1995; 29: 777-807.

Denning G.M. , Anderson M.P. , Amara J.F. , Marshall J. , Smith A.E. , Welsh M.J. Processing of mutant cystic fibrosis conductance regulator is temperature-sensitive. Nature 1992; 358: 761-4.

Lukacs G.L. , Chang X.B. , Bear C. , Kartner N. , Mohamed A. , Riordan J.R. The delta F508 mutation decreases the stability of the cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of the functional half lives in transfected cells. J Biol Chem 1993; 268: 21592-8.

Wilschanski M. , Zielenski J. , Markiewicz D. , Tsui L-C , Corey M. , Levison H. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 1995; 127: 705-10.

Gaskin K. , Gurwitz D. , Durie P. , Corey M. , Levison H. , Forstner G. Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption. J Pediatr 1982; 100: 857-62.

Corey M. , Durie P. , Moore D. , Forstner G. , Levison H. Familial concordance of pancreatic function in cystic fibrosis. J Pediatr 1989; 115: 274-7.

Kristidis P. , Bozon D. , Corey M. , Markiewicz D. , Rommens J. , Tsui L-C Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992; 50: 1178-84.

Couper R.T.L. , Corey M. , Moore D.J. Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Paediatric Res 1992; 32: 179-82.

Waters D.L. , Dorney S.F.A. , Gaskin K.J. , Gruca M.A. , O'Halloran M. , Wilcken B. Pancreatic function in infants identified as having cystic fibrosis in a neonatal programme. N Engl J Med 1990; 322: 303-8.

Kerem E. , Corey M. , Kerem B. Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus. J Pediatr 1989; 114: 767-73.

Hamosh A. , King T.M. , Rosenstein B.J. Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and $DLF508 mutation are clinically indistinguishable from $DLF508 homozygotes except for decreased risk of meconium ileus. Am J Hum Genet 1992; 51: 245-50.

Snouwaert J.N. , Brigman K.K. , Latour A.M. , Malouf N.N. , Boucher R.C. , Smithies O. An animal model for cystic fibrosis made by gene targeting. Science 1992; 257: 1083-8.

Colledge W.H. , Abella B.S. , Southern K.W. Generation and characterization of a $DLF508 cystic fibrosis mouse model. Nat Genet 1995; 10: 445-52.

Delaney S.J. , Alton E.W.F.W. , Smith S.N. Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype—phenotype correlations. EMBO J 1996; 15: 955-63.

Zhou L.C. , 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; 266: 1705-8.

Clarke L.L. , Grubb B.R. , Yankasakas J.R. , Cotton C.V. , 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 USA 1994; 91: 479-83.

Rozmahel R. , Wilschanski M. , Matin A. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996; 12: 280-7.

Wilschanski M. , Rozmahel R. , Beharry S. In vivo measurements of ion transport in long-living CF mice. Biochem Biophys Res Commun 1996; 219: 753-9.

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; 266: 107-9.

Chu C-S , Trapnell B.C. , Curristin S.M. , Cutting G.R. Genetic basis of variable exon skipping in cystic fibrosis transmembrane regulator mRNA. Nature Genet 1993; 3: 151-6.

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 the vas deferens. Hum Mol Genet 1997; 6: 2099-107.