Sökning: "cystic fibrosis transmembrane conductance regulator"
Visar resultat 1 - 5 av 20 avhandlingar innehållade orden cystic fibrosis transmembrane conductance regulator.
1. Mucins, Cystic Fibrosis and PDZ protein interactions
Sammanfattning : Cystic Fibrosis (CF) is caused and characterized by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The dominating feature of the disease is mucus accumulation on mucosal surfaces, but no direct functional connection between mucus and CFTR is known. LÄS MER
2. Clinical and genetical studies in cystic fibrosis and pseudohypoaldosteronism
Sammanfattning : Cystic fibrosis (CF) is the most common severe autosomal recessive disorder among Caucasians and is caused by mutations of the chloride channel, CFTR (cystic fibrosis transmembrane conductance regulator) gene. Despite a markedly improved median survival many CF patients still die at a young age. LÄS MER
3. Cystic fibrosis in adults. Diagnostic, epidemiologic and quality-of-life aspects
Sammanfattning : Background: Cystic fibrosis (CF) is a severe hereditary disease. The type of mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene will determine the degree of CFTR chloride channel malfunction. LÄS MER
4. Advances in Pharmacological Treatment of Cystic Fibrosis
Sammanfattning : Cystic fibrosis (CF) is an inborn, hereditary disease, due to mutations in the gene for a cAMP-activated chloride (Cl-) channel, the cystic fibrosis transmembrane conductance regulator (CFTR). As a result of impaired ion and water transport,the airway mucus is abnormally viscous, which leads to bacterial colonization. LÄS MER
5. Towards Pharmacological Treatment of Cystic Fibrosis
Sammanfattning : S-nitrosogluthatione is an endogenous substance, present at decreased levels in the lungs of CF patients and was recently found to induce mature CFTR in airway epithelial CF cell lines. We show that S-nitrosoglutathione in physiological concentrations increases the presence of ΔF508 CFTR in the cell membrane and induces cAMP dependent chloride transport in cystic fibrosis airway epithelial cells. LÄS MER