Topics from this paper
Cutaneous Manifestations of Cystic Fibrosis
The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.
Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies.
- Biology, MedicinePharmacology & therapeutics
Recent technological advances combined with two decades of research driven by the discovery of the CFTR gene have resulted in the development and clinical testing of novel therapies aimed at the principal underlying defect in CF, thereby ushering in a new age of therapy for CF.
Cystic fibrosis--what are the prospects for a cure?
- MedicineEuropean journal of internal medicine
Cystic fibrosis: a rare disease emerging in China
- MedicineScience China Life Sciences
Cystic fibrosis is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) protein, an anion channel expressed on the epithelial surface, resulting in infection, mucus obstruction, inflammation and bronchiectasis.
Adult cystic fibrosis care in the 21st century.
- MedicineMonaldi archives for chest disease = Archivio Monaldi per le malattie del torace
The complex care required to improve the survival and quality of life in the adult patients can best be provided in a dedicated adult cystic fibrosis unit, which currently exist in many European countries, but more are needed in Italy.
Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?
- MedicineProceedings of the National Academy of Sciences
Evidence is provided that CF heterozygosity may represent a haploinsufficiency state, analogous to that seen with thalassemia, where individuals with a single copy of the disease-causing allele do suffer adverse health effects, presumably due to production of the gene’s product at lower levels than would be seen in noncarriers.
Cystic fibrosis and the gut
- MedicineFrontline Gastroenterology
Novel treatments treating the basic effect in CF are now being introduced and their effects on the gastrointestinal tract are discussed.
Carriers of a single CFTR mutation are asymptomatic: an evolving dogma?
- MedicineEuropean Respiratory Journal
Carriers of a single CFTR mutation express 50% CFTR protein function, a level that has been considered sufficient to stay healthy, and may be at higher risk of multiple CFTR-related diseases.
Cystic Fibrosis and Its Management Through Established and Emerging Therapies.
- MedicineAnnual review of genomics and human genetics
The near future will see greater access to targeted therapies for most patients carrying common mutations, which will mandate individualized bench-to-bedside methodologies for those with rare genotypes.
Cystic fibrosis: physiopathology and the latest pharmacological treatments.
- MedicinePharmacological research
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Modifier genes in cystic fibrosis lung disease.
- Biology, MedicineThe Journal of laboratory and clinical medicine
It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
Cystic fibrosis and congenital absence of the vas deferens.
- MedicineThe New England journal of medicine