Cystic fibrosis (CF) is a genetic disorder, which means you get it from your parents at birth. It affects your lungs, pancreas, and other organs. CF changes the way chloride (salt) moves through the cells of your body. This causes the mucus (which should be thin and slippery) in vario...
Sheppard. (2014) Understanding how cystic fibrosis mutations disrupt CFTR function: From single molecules to animal models. The International Journal of Biochemistry & Cell Biology 52 , 47-57 /Wang Y., Wrennall JA., Cai Z, et al. Understanding how cystic fibrosis mutations disrupt CFTR function...
from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated with cystic fibrosis (CF)....
AmultisystemdiseaseAutosomalrecessiveinheritanceCause:mutationsinthecysticfibrosistransmembraneconductanceregulator(CFTR)chromosome7codesforac-AMPregulatedchloridechannel Rosenstein,BJandZeitlin,PL.Cysticfibrosis.TheLancet.351:277-82.Diagnosisofcysticfibrosis OneormoreclinicalfeaturesofCF...
Cystic fibrosis (CF) is a multi-organ disease caused by genetic mutations in CFTR, a cAMP-regulated anion channel1, leading to a reduction or ablation in apical membrane CFTR channel activity that is especially visible in the lungs, pancreas, GI tract, sweat glands and reproductive systems2. ...
Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation. This study investigated the clinical usefulness of screening for cystic fibrosis (CF) in 19992 newborns, over 39 months, in an Austrian population. Immunor... J Larsen,...
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exo
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: Analysis of variant splicing and a nonsense mutation We have used the chemical cleavage mismatch technique to screen for mutations in the gene. Analysis of exons 10 and 11 in the first fold led to the detecti......
Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls. RESULTS: Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T allele. Fifty-four patients...
We present an analysis of the frequency of 16 different cystic fibrosis (CF) mutant alleles in the Scottish population. Each allele was detected in DNA amplified by the polymerase chain reaction (PCR) either directly on polyacrylamide gels, on agarose gels after restriction enzyme digestion, or by...