Peripheral nervous system abnormalities, including neuropathy, have been reported in people with cystic fibrosis. These abnormalities have largely been attributed to secondary manifestations of the disease. We tested the hypothesis that disruption of the cystic fibrosis transmembrane conductance regulator (CFTR) gene directly influences nervous system function by studying newborn CFTR(-/-) pigs...

We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mi...

Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-p...

Cystic Fibrosis (CF) is a common autosomal recessive disorder, caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. CFTR gene expression is tightly controlled by transcriptional and post-transcriptional regulatory factors, resulting in complex spatial and temporal expression patterns. Here, we describe an overview of the findings about the contribution of ...

Cystic fibrosis transmembrane conductance regulator (CFTR) is a well-known component since it was found that some specific mutations of CFTR gene can cause cystic fibrosis and congenital bilateral absence of vas deferens (1, 2). Interestingly, more and more studies demonstrate that CFTR also modulates acute lung injury (ALI) (3-8), a devastating inflammatory lung syndrome characterized by diffu...

Cystic Fibrosis (CF) is the most common autosomal recessive lethal disorder among Caucasian populations. CF results from mutations and resulting dysfunction of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). CFTR is a cyclic AMP-dependent chloride channel that is localized to the apical membrane in epithelial cells where it plays a key role in salt and water homeostasis. An intr...

Cystic Fibrosis is an autosomal recessive disease affecting the exocrine glands of the lung, liver, pancreas and intestines. It leads to a diverse range of clinical problems. Although most patients have multiple organs involved, pulmonary disease is the principal cause of both morbidity and mortality in the majority of patients. Cystic Fibrosis is the result of abnormalities in the gene that co...

The cause of cystic fibrosis-related diabetes (CFRD) remains unknown, but cystic fibrosis transmembrane conductance regulator (CFTR) mutations contribute directly to multiple aspects of the cystic fibrosis phenotype. We hypothesized that susceptibility to islet dysfunction in cystic fibrosis is determined by the lack of functional CFTR. To address this, glycemia was assessed in CFTR null (CFTR(...

Cystic Fibrosis (CF) is an autosomal recessive disorder caused by mutations in the Transmembrane Conductance Regulator (CFTR) gene. CF-related diabetes (CFRD) one of most prevalent comorbidities CF. Altered glucose homeostasis has been reported CF patients. The mechanism not fully elucidated. Besides consequence pancreatic endocrine dysfunction, we focus on insulin-responsive tissues and transp...