Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, which encodes an epithelial anion …

The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using
denaturing gradiert gel electrophoresis to screen the entire coding regiors and adjacent cystic …

CFTR (cystic fibrosis transmembrane conductance regulator) is an epithelial Cl − channel
inhibited with high affinity and selectivity by the thiazolidinone compound CFTR inh -172. In …

The ubiquitous ClC-2 Cl − channel is thought to contribute to epithelial Cl − secretion, but
the distribution of the ClC-2 protein in human epithelia has not been investigated. We have …

The thiazolidinone CFTR inh ‐172 was identified recently as a potent and selective blocker
of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl − channel. Here, we …

Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator)
gene are rare or private. Their interpretation is hampered by the lack of available data and …

A 41-year-old nonsmoking male presented with dyspnoea on mild exertion. The patient’s
medical history indicated neonatal respiratory distress, gastro-oesophageal reflux and …

Cystic fibrosis is characterized by chronic inflammation and an imbalance in the
concentrations of alveolar and lung oxidants and antioxidants, which result in cell damage. …

We retrospectively studied the clinical presentation, treatment modalities and outcome in 16
patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve …

Aims Hereditary (ATTRv) and wild‐type (ATTRwt) transthyretin amyloidosis are severe and
fatal systemic diseases, characterised by amyloid fibrillar accumulation principally in the …