Human genetics influence a range of pathological and clinical phenotypes in respiratory infections; however, the contributions of disease modifiers remain underappreciated. We exploited the ...
The most prevalent pathogenic mutations in the (Δ) and /pendrin (), which cause cystic fibrosis and congenital hearing loss, respectively, evoke protein misfolding and subsequent defects i...
To assess whether the evolution of two consecutive high-resolution computed tomography (HRCT) scores in patients with cystic fibrosis (CF) has prognostic value.A longitudinal retrospective s...
Mycobacterium abscessus infection has been associated with variable outcomes following lung transplantation. M. abscessus comprises three subspecies (M. abscessus subsp abscessus, M. abscess...
The human airway is protected by an efficient innate defence mechanism that requires healthy secretion of airway surface liquid (ASL) to clear pathogens from the lungs. Most of the ASL in th...
To the best of our knowledge, there is no study in the literature investigating the extrapulmonary outcomes of children with non-cystic fibrosis (CF) bronchiectasis and CF under the framewor...
Cystic fibrosis (CF) is a progressive, life-threatening, genetic disease which mainly damages the lungs and the digestive system. It's a complex medical condition, with several individual fo...
To examine contraceptive use, pregnancy intention and the association of hormonal contraceptive type with adverse health outcomes among women with cystic fibrosis (CF).We recruited 150 women...
The release and absorption profile of an oral medication is influenced by the physicochemical properties of the drug and its formulation, as well as by the anatomy and physiology of the gast...
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel activated by PKA phosphorylation on the regulatory (R) domain. Phosphorylation at several R domain residues s...
A fundamental question in advancing Parkinson disease (PD) research is whether it represents one disorder or many. Does each genetic PD inform a common pathobiology or represent a unique ent...
A mosaic of cross-phylum chemical interactions occurs between all metazoans and their microbiomes. A number of molecular families that are known to be produced by the microbiome have a marke...
Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of t...
Pseudomonas aeruginosa is the most frequent infectious agent in cystic fibrosis patients. P. aeruginosa resistance to first line antibiotics limits therapeutic options, but the therapeutic p...
Animal models of cystic fibrosis (CF) are essential for investigating disease mechanisms and trialling potential therapeutics. This study generated two CF rat models using clustered regularl...
Physical activity is widely recommended in the treatment and management of cystic fibrosis (CF). Despite the numerous physical and psychological benefits, many young people with CF are not a...
The involvement of microRNAs in human pathologies is firmly established. Accordingly, the pharmacological modulation of microRNA activity appears to be a very interesting approach in the dev...
Male reproduction is a complex process, and numerous medical conditions have the potential to alter spermatogenesis. In addition, male factor infertility may be a biomarker for future health...
Recent literature has highlighted the importance of transition from paediatric to adult care for children with chronic conditions. Non-cystic fibrosis bronchiectasis is an important cause of...
With the increase in life expectancy, cardiovascular complications of cystic fibrosis (CF) have come to the forefront. Increased arterial stiffness is a marker of increased cardiovascular ri...
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