Add to ORKGJournal ArticleThe most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is misprocessed and degraded rather than traveling to the apical membrane. We used a novel strategy to introduce the delta F508 mutation into the mouse CFTR gene. Affected epithelia from homozygous delta F508 mice lacked CFTR in the apical membrane and were Cl-impermeable. These abnormalities are the same as those observed in patients with delta F508 and suggest that these mice have the same cellular defect. 40% of homozygous delta F508 animals survived into adulthood and displayed several abnormalities found in human disease and in CFTR null mice. These an...
Mice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr...
Cystic fibrosis (CF) is the most common fatal autosomal recessive genetic disorder in Caucasian popu...
textabstractBackground: A major boost to cystic fibrosis disease research was given by the generatio...
Most cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transme...
We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane con...
Cystic fibrosis is a fatal genetic disorder which afflicts 50,000 people worldwide. A viable animal ...
textabstractBackground: From the original CftrTgH(neoim)Hgu mutant mouse model with a divergent gene...
We have used a mouse model to study the ability of human CFTR to correct the defect in mice deficien...
The cystic fibrosis transmembrane conductance regulator is encoded by the gene known to be mutated i...
Cystic fibrosis (CF) is caused by mutations in the gene encoding a cAMP-mediated chloride channel ca...
BACKGROUND & AIMS: The most common form of the disease-causing cystic fibrosis transmembrane conduct...
The most common cause of cystic fibrosis (CF) is deletion of phenylalanine 508 (DeltaF508) in the CF...
Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genet...
We previously generated an adenoassociated viral gene therapy vector, rAAV-Delta264 cystic fibrosis ...
Cross-species comparative studies have highlighted differences between human and mouse cystic fibros...
Mice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr...
Cystic fibrosis (CF) is the most common fatal autosomal recessive genetic disorder in Caucasian popu...
textabstractBackground: A major boost to cystic fibrosis disease research was given by the generatio...
Most cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transme...
We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane con...
Cystic fibrosis is a fatal genetic disorder which afflicts 50,000 people worldwide. A viable animal ...
textabstractBackground: From the original CftrTgH(neoim)Hgu mutant mouse model with a divergent gene...
We have used a mouse model to study the ability of human CFTR to correct the defect in mice deficien...
The cystic fibrosis transmembrane conductance regulator is encoded by the gene known to be mutated i...
Cystic fibrosis (CF) is caused by mutations in the gene encoding a cAMP-mediated chloride channel ca...
BACKGROUND & AIMS: The most common form of the disease-causing cystic fibrosis transmembrane conduct...
The most common cause of cystic fibrosis (CF) is deletion of phenylalanine 508 (DeltaF508) in the CF...
Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genet...
We previously generated an adenoassociated viral gene therapy vector, rAAV-Delta264 cystic fibrosis ...
Cross-species comparative studies have highlighted differences between human and mouse cystic fibros...
Mice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr...
Cystic fibrosis (CF) is the most common fatal autosomal recessive genetic disorder in Caucasian popu...
textabstractBackground: A major boost to cystic fibrosis disease research was given by the generatio...