Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disorder in Caucasian population. It due to mutations Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Current symptomatic CF therapies, which treat downstream consequences of CFTR mutations, have increased survival. Better knowledge protein has enabled pharmacologic therapy aiming restore mutated expression an...

 Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...

Cystic fibrosis (CF) is an autosomal recessive disorder that afflicts 72000 people world wide. It caused by over 2000 mutations to anion channel, the cystic transmembrane conductance regulator (CFtR) of which Over 300 present disease phenotype. We aim characterise all CF causing CFTR missense in Australian population using molecular dynamics modeling. Here we progress toward this goal presentin...

In recent years, the microbiome has been recognized as a key regulator of immune responses. Evidence suggests that changes in the microbiome can lead to chronic disease and even exacerbation of the disease. Impairment of innate immunity resulting from microbial incompatibility may worsen host susceptibility to infection and exacerbate chronic lung diseases. Specific microbes play a key role in ...

More than 1,300 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) are the cause for cystic fibrosis. CFTR is in charge of proper secretion and absorption of electrolytes, and thus the disease is characterized by defective epithelial Cl(-) secretion and enhanced Na(+) absorption. Recent studies show that CFTR interacts with other proteins via PDZ domains.

Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for the treatment of patients with cystic fibrosis (CF) with the G551D mutation aged 6 years or older. To evaluate the efficacy of this CFTR-modulating therapy (CFTR-MT) biomarkers such as sweat chloride (SC), nasal potential difference (NPD) and intestinal current measurement (ICM) have been implem...

The most prevalent form of cystic fibrosis arises from an amino acid deletion in the cystic fibrosis transmembrane conductance regulator, CFTR. A recently approved treatment for individuals homozygous for this mutation combines a chemical corrector, which helps CFTR fold, and a potentiator that increases CFTR channel activity.

objective(s):  more than 1500 registered mutations in cystic fibrosis transmembrane regulator (cftr) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (cf). this study was performed to investigate the frequency of a number of well-known cftr mutations in north eastern iranian cf patients. material and m...

Abstract Background The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene has been traditionally linked to (CF) inheritance in an autosomal recessive manner. Advances molecular biology and genetics have expanded our understanding of the its encoding products expressed different tissues. Aim study’s aim consists reviewing pathological CF phenotypes using existing literature. We k...