Published in J R Soc Med on January 01, 1998
Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs. Science (2008) 6.28
Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol (2004) 3.43
The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs. Sci Transl Med (2011) 2.01
Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6. J Gen Physiol (2006) 1.73
Pathology of gastrointestinal organs in a porcine model of cystic fibrosis. Am J Pathol (2010) 1.60
Slc26a6 regulates CFTR activity in vivo to determine pancreatic duct HCO3- secretion: relevance to cystic fibrosis. EMBO J (2006) 1.56
New animal models of cystic fibrosis: what are they teaching us? Curr Opin Pulm Med (2011) 1.03
Development of a porcine model of cystic fibrosis. Trans Am Clin Climatol Assoc (2009) 1.02
Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract. Sci Rep (2016) 0.75
Emergency colonoscopy for distal intestinal obstruction syndrome in cystic fibrosis patients. Gut (2002) 0.75
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22
Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 21.46
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature (1992) 8.47
CFTR as a cAMP-dependent regulator of sodium channels. Science (1995) 6.50
An animal model for cystic fibrosis made by gene targeting. Science (1992) 5.75
The changing epidemiology of cystic fibrosis. J Pediatr (1993) 5.50
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell (1992) 4.71
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med (1990) 4.70
Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science (1994) 3.97
Abnormal ion permeation through cystic fibrosis respiratory epithelium. Science (1983) 3.31
Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet (1995) 3.27
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet (1993) 3.22
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) 2.65
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet (1996) 2.65
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) 2.53
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR. Science (1994) 2.24
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. N Engl J Med (1990) 2.06
Generation and characterization of a delta F508 cystic fibrosis mouse model. Nat Genet (1995) 1.96
Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas. Gastroenterology (1988) 1.75
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr (1995) 1.70
Pancreatic fluid secretion and protein hyperconcentration in cystic fibrosis. N Engl J Med (1985) 1.67
Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus. J Pediatr (1989) 1.37
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) 1.22
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J (1996) 1.13
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet (1997) 1.09
Familial concordance of pancreatic function in cystic fibrosis. J Pediatr (1989) 0.91
Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Pediatr Res (1992) 0.91
In vivo measurements of ion transport in long-living CF mice. Biochem Biophys Res Commun (1996) 0.84
Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. N Engl J Med (1989) 1.77
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr (1995) 1.70
High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. N Engl J Med (1997) 1.51
Effect of cimetidine and sodium bicarbonate on pancreatic replacement therapy in cystic fibrosis. Gut (1980) 1.50
Acute pancreatitis in childhood. J Pediatr (1988) 1.49
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr (1999) 1.47
A position paper of the North American Society for Pediatric Gastroenterology and Nutrition. Pediatric gastroenterology Workforce Survey and future supply and demand. J Pediatr Gastroenterol Nutr (1998) 1.45
Bile acid secretion in cystic fibrosis: evidence for a defect unrelated to fat malabsorption. Gut (1986) 1.44
Age-related alterations of immunoreactive pancreatic cationic trypsinogen in sera from cystic fibrosis patients with and without pancreatic insufficiency. Pediatr Res (1986) 1.34
Effects of long-term nutritional rehabilitation on body composition and clinical status in malnourished children and adolescents with cystic fibrosis. J Pediatr (1985) 1.30
Recommendations for management of liver and biliary tract disease in cystic fibrosis. Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. J Pediatr Gastroenterol Nutr (1999) 1.28
Treatment of distal intestinal obstruction syndrome in cystic fibrosis with a balanced intestinal lavage solution. Lancet (1986) 1.28
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet (2004) 1.27
Evidence for a primary defect of pancreatic HCO3-secretion in cystic fibrosis. Pediatr Res (1982) 1.26
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements. J Pediatr (1998) 1.26
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology (1996) 1.25
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet (2001) 1.21
Colipase and lipase secretion in childhood-onset pancreatic insufficiency. Delineation of patients with steatorrhea secondary to relative colipase deficiency. Gastroenterology (1984) 1.17
Use of pancreatic enzyme supplements for patients with cystic fibrosis in the context of fibrosing colonopathy. Consensus Committee. J Pediatr (1995) 1.16
Dietary intakes of young children with cystic fibrosis: is there a difference? J Pediatr Gastroenterol Nutr (1996) 1.12
Late gastrointestinal bleeding and protein loss after distal small-bowel resection in infancy. J Pediatr Gastroenterol Nutr (1989) 1.11
Malnutrition: a cause of elevated sweat chloride concentration. Acta Paediatr Scand (1986) 1.03
Meconium ileus in the absence of cystic fibrosis. Arch Dis Child (1992) 1.03
Lavage treatment of distal intestinal obstruction syndrome in children with cystic fibrosis. Pediatrics (1989) 1.02
The association of cystic fibrosis, gastroesophageal reflux, and reduced pulmonary function. Can Assoc Radiol J (1988) 1.00
Pathogenesis of malnutrition in cystic fibrosis, and its treatment. Clin Nutr (2000) 0.98
Peptic ulcer disease in children: etiology, clinical findings, and clinical course. Pediatrics (1988) 0.96
Colipase and maximally activated pancreatic lipase in normal subjects and patients with steatorrhea. J Clin Invest (1982) 0.93
Treatment of vitamin K deficiency in cystic fibrosis: Effectiveness of a daily fat-soluble vitamin combination. J Pediatr (2001) 0.92
Isolated congenital lipase-colipase deficiency. Gastroenterology (1984) 0.92
Malabsorption of medium-chain triglycerides in infants with cystic fibrosis: correction with pancreatic enzyme supplement. J Pediatr (1980) 0.92
Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Pediatr Res (1992) 0.91
The cystic fibrosis gene and resting energy expenditure. J Pediatr (1991) 0.90
Nutritional management of cystic fibrosis. Annu Rev Nutr (1993) 0.90
Steatorrhea and pancreatic insufficiency in Shwachman syndrome. Gastroenterology (1982) 0.89
Pancreatic function testing in cystic fibrosis. J Pediatr Gastroenterol Nutr (1984) 0.89
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr (1994) 0.89
Serum immunoreactive cationic trypsinogen: a useful indicator of severe exocrine dysfunction in the paediatric patient without cystic fibrosis. Gut (1986) 0.87
Bentiromide test for assessing pancreatic dysfunction using analysis of para-aminobenzoic acid in plasma and urine. Studies in cystic fibrosis and Shwachman's syndrome. Gastroenterology (1985) 0.86
Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosis. J Pediatr (1995) 0.85
Management of fibrosing pancreatitis in children presenting with obstructive jaundice. Gut (1998) 0.85
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection. Genes Immun (2011) 0.84
Exocrine pancreatic alterations in long-lived surviving cystic fibrosis mice. Pediatr Res (1996) 0.84
Does the Macroduct collection system reliably define sweat chloride concentration in subjects with intermediate results? Clin Biochem (2009) 0.84
Immunoreactive forms of cationic trypsin in plasma and ascitic fluid of dogs in experimental pancreatitis. Am J Pathol (1981) 0.84
Appendicitis in cystic fibrosis. Arch Dis Child (1991) 0.83
Treatment failure in celiac disease due to coexistent exocrine pancreatic insufficiency. Pediatrics (1987) 0.83
Effects of cisapride in patients with cystic fibrosis and distal intestinal obstruction syndrome. J Pediatr (1990) 0.82
Pancreatitis and mutations of the cystic fibrosis gene. N Engl J Med (1998) 0.81
Elevated serum immunoreactive pancreatic cationic trypsinogen in acute malnutrition: evidence of pancreatic damage. J Pediatr (1985) 0.81
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am J Med Genet (1999) 0.81
Radioimmunoassay of active pancreatic enzymes in sera from patients with acute pancreatitis. I. Active carboxypeptidase B. Clin Chem (1985) 0.80
Behçet's syndrome involving the gastrointestinal tract--a diagnostic dilemma in childhood. Pediatr Radiol (1986) 0.80
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. Am J Hum Genet (2000) 0.80
Pancreatic cysts and calcification in cystic fibrosis. Can Assoc Radiol J (1986) 0.80
Plasma immunoreactive anionic pancreatic trypsin in cystic fibrosis. J Pediatr Gastroenterol Nutr (1982) 0.79
Biochemical tests in the diagnosis of chronic pancreatitis and in the evaluation of pancreatic insufficiency. Clin Biochem (1993) 0.78
Altered PABA pharmacokinetics in cystic fibrosis. Implications for bentiromide test. Dig Dis Sci (1985) 0.78
Plasma immunoreactive pancreatic cationic trypsinogen in cystic fibrosis: a sensitive indicator of exocrine pancreatic dysfunction. Pediatr Res (1981) 0.78
Correlation of intestinal lactulose permeability with exocrine pancreatic dysfunction. J Pediatr (1992) 0.77
Challenges in the dietary treatment of cystic fibrosis related diabetes mellitus. Clin Nutr (2000) 0.77
Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet (1991) 0.76
Is chymotrypsin output a better diagnostic index than the measurement of chymotrypsin in random stool? Enzyme (1988) 0.76
Radiologic manifestations of malabsorption: a nonspecific finding. Pediatrics (1984) 0.76
Selective precipitation of 14 kDa stone/thread proteins by concentration of pancreaticobiliary secretions: relevance to pancreatic ductal obstruction, pancreatic failure, and CF. J Pediatr Gastroenterol Nutr (1989) 0.76
Synergistic effects of cAMP- and calcium-mediated amylase secretion in isolated pancreatic acini from cystic fibrosis mice. Pediatr Res (1999) 0.76
Outcomes of patients with cystic fibrosis undergoing lung transplantation with and without cystic fibrosis-associated liver cirrhosis. Clin Transplant (2011) 0.75
Neonatal septicemia caused by group A beta-hemolytic Streptococcus. Pediatr Infect Dis J (1989) 0.75
Postnatal development of the rat exocrine pancreas. II. Effects of protein-calorie malnutrition on amylase secretion and CCK receptor binding. Pancreas (1997) 0.75
Glycine conjugation of para-aminobenzoic acid (PABA): a quantitative test of liver function. Clin Biochem (1995) 0.75
Elevated sweat chloride levels in anorexia nervosa. J Pediatr (1986) 0.75
Abnormalities of circulating immunoreactive pancreatic anionic trypsinogen in cystic fibrosis: an assay artifact due to cross-reacting serum antibodies. Clin Biochem (1986) 0.75
Impact of protein deprivation on protein and DNA synthesis in the developing rat pancreas. Biol Neonate (1998) 0.75
Liquid-chromatographic measurement of p-aminobenzoic acid and its metabolites in serum. Clin Chem (1988) 0.75
Postnatal development of the rat exocrine pancreas. I. Alterations in high- and low-affinity cholecystokinin receptors and enzyme secretion. Pancreas (1997) 0.75
Stool chymotrypsin activity measured by a spectrophotometric procedure to identify pancreatic disease in infants. Clin Biochem (1986) 0.75
Pancreatic and intestinal dysfunction in cystic fibrosis. Prog Clin Biol Res (1987) 0.75
Serial alterations in the forms of immunoreactive pancreatic cationic trypsin in plasma from patients with acute pancreatitis. J Pediatr Gastroenterol Nutr (1985) 0.75
Chronic intussusception due to antral myoepithelioma. J Pediatr Surg (1986) 0.75
The radiologic and endoscopic investigation and etiologic classification of gastritis in children. Can Assoc Radiol J (1990) 0.75
Effects of food intake and cholecystokinin on plasma trypsinogen levels in dogs. Am J Physiol (1984) 0.75