Genetic modifying factors of cystic fibrosis phenotype: a challenge for modern medicine
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …
Update on gene modifiers in cystic fibrosis
JM Collaco, GR Cutting - Current opinion in pulmonary medicine, 2008 - journals.lww.com
Several genes have been demonstrated to affect disease severity in CF. Furthermore, it is
likely that gene–gene and gene–environment interactions can explain a substantial portion …
likely that gene–gene and gene–environment interactions can explain a substantial portion …
Targeted immunomodulation of the NF-κB pathway in airway epithelium impacts host defense against Pseudomonas aeruginosa
RT Sadikot, H Zeng, M Joo, MB Everhart… - The Journal of …, 2006 - journals.aai.org
We investigated the impact of inflammatory signaling in airway epithelial cells on host
defense against Pseudomonas aeruginosa, a major cause of nosocomial pneumonia. In …
defense against Pseudomonas aeruginosa, a major cause of nosocomial pneumonia. In …
Lung disease modifier genes in cystic fibrosis
Cystic fibrosis (CF) is recognized as a single gene disorder. However, a considerable
diversity in its clinical phenotype has been documented since the description of the disease …
diversity in its clinical phenotype has been documented since the description of the disease …
Genetic influences on cystic fibrosis lung disease severity
CA Weiler, ML Drumm - Frontiers in pharmacology, 2013 - frontiersin.org
Understanding the causes of variation in clinical manifestations of disease should allow for
design of new or improved therapeutic strategies to treat the disease. If variation is caused …
design of new or improved therapeutic strategies to treat the disease. If variation is caused …
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
C Goubau, M Wilschanski, V Skalická, P Lebecque… - Thorax, 2009 - thorax.bmj.com
Background: In patients with symptoms suggestive of cystic fibrosis (CF) and intermediate
sweat chloride values (30–60 mmol/l), extensive CFTR gene mutation analysis and nasal …
sweat chloride values (30–60 mmol/l), extensive CFTR gene mutation analysis and nasal …
Mucosal immunity in cystic fibrosis
The highly complex and variable genotype–phenotype relationships observed in cystic
fibrosis (CF) have been an area of growing interest since the discovery of the CF …
fibrosis (CF) have been an area of growing interest since the discovery of the CF …
Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis
H Corvol, N Nathan, C Charlier, K Chadelat… - Respiratory …, 2007 - Springer
Background The variability in the inflammatory burden of the lung in cystic fibrosis (CF)
patients together with the variable effect of glucocorticoid treatment led us to hypothesize …
patients together with the variable effect of glucocorticoid treatment led us to hypothesize …
Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis
The clinical course of cystic fibrosis (CF) varies considerably among patients carrying the
same CF‐causing gene mutation. Additional genetic modifiers may contribute to this …
same CF‐causing gene mutation. Additional genetic modifiers may contribute to this …
The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis
J Laki, I Laki, K Németh, R Ujhelyi, O Bede… - International …, 2006 - academic.oup.com
Major cause of death in patients with cystic fibrosis (CF) is colonization with Staphylococcus
aureus and Pseudomonas aeruginosa. The wide phenotypic variation in CF patients …
aureus and Pseudomonas aeruginosa. The wide phenotypic variation in CF patients …