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Cystic Fibrosis
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TLDR
Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.Abstract:
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.read more
Citations
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Journal ArticleDOI
Review of the abdominal manifestations of cystic fibrosis in the adult patient.
TL;DR: Manifestations in the pancreas and abdomen are common and affect multiple organ systems, and awareness of these manifestations is important to successfully guide management of cystic fibrosis in adult patients.
A Pseudomonas aeruginosa Toxin that Hijacks the Host Ubiquitin Proteolytic System
Jennifer M. Bomberger,Siying Ye,Daniel P. MacEachran,Katja Koeppen,Roxanna Barnaby,George A. O'Toole,Bruce A. Stanton +6 more
TL;DR: In this paper, the authors investigated the mechanism whereby Pseudomonas aeruginosa (PA2934) reduces CFTR-mediated chloride secretion by human airway epithelial cells, a key driving force for mucociliary clearance.
Journal ArticleDOI
Phosphate starvation promotes swarming motility and cytotoxicity of Pseudomonas aeruginosa.
TL;DR: Dysregulation in transcriptional responses of Pseudomonas aeruginosa under phosphate-deficient conditions led to increased virulence-associated phenotypes, including swarming motility and cytotoxicity.
Journal ArticleDOI
Cystic fibrosis transmembrane conductance regulator is involved in airway epithelial wound repair
TL;DR: Findings support the conclusion that CFTR participates in airway epithelial wound repair by a mechanism involving anion transport that is coupled to the regulation of lamellipodia protrusion at the leading edge of the cell.
Journal ArticleDOI
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
Deanna M Green,Kathryn E. McDougal,Scott M. Blackman,Patrick R. Sosnay,Lindsay B. Henderson,Kathleen M. Naughton,J. Michael Collaco,Garry R. Cutting +7 more
TL;DR: Residual CFTR function correlates with later onset of respiratory tract infection by a wide spectrum of organisms frequently cultured from CF patients, and the protective effect conferred by residualCFTR function is diminished in CF patients with more advanced lung disease.
References
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Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TL;DR: 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.
Related Papers (5)
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more