Cystic fibrosis is a genetic disorder driven by CFTR mutations that affects the exocrine glands. Manifesting with excessively viscous mucus production, patients typically experience obstruction of passageways (e.g., pancreatic and bile ducts, intestines, and bronchi). Lung disease is responsible for th...
Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies. Pharmacol Ther. 2010; 125 (2):219–29. doi: 10.1016/j.pharmthera.2009.10.006. [ Cross Ref ]Kreindler J L. Cystic fibrosis:exploiting its genetic basis in the hunt for new therapies[J].Pharmacology and ...
What Is Cystic Fibrosis? 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 th...
Cystic fibrosis(CF) is agenetic(inherited) disease that affects mainly the lungs, the pancreas, and the sweat glands. Some CF patients develop serious liver disease. The abnormal CF gene changes the makeup of mucus in the airways, making it thick and sticky. The body cannot clear this thick...
1.3.5 Cystic fibrosis Cystic fibrosis is an autosomal recessive genetic disease characterised by abnormal mucus production and recurrent infections that cause bronchiectasis and ultimately pulmonary fibrosis (Alexander and Keogh, 2005), which can result in pulmonary hypertension. The two most common organis...
Cystic fibrosis (CF) is a genetic disorder characterized by chronic microbial colonization and inflammation of the respiratory tract (RT), leading to pulmonary exacerbation (PEx) and lung damage. Although the lung bacterial microbiota has been extensively studied, the mycobiome remains understudied. Howe...
Cystic fibrosis is a genetic disease affecting the exocrine glands, which are the organs responsible for making fluids in the body that is potentially fatal but treatable, especially when diagnosed early. Learn about the disease process of cystic fibrosis, including the mutated gene that causes it,...
Description Cystic fibrosis, or cystic fibrosis, is a genetic disease based on a defect in the genetic material and is not curable.
Candidate and genome-wide approaches have identified biologically plausible gene modifiers of lung disease severity, neonatal intestinal obstruction and diabetes in cystic fibrosis. Annotation of variants in CFTR will increase the utility of genetic testing in newborn screening, carrier testing and diagnosti...
Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our