Results 101 to 110 of about 1,122,604 (303)
Allergic bronchopulmonary aspergillosis: diagnostic and treatment challenges [PDF]
, 2016 Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder, occurring mostly in asthmatic and cystic fibrosis patients, caused by an abnormal T-helper 2 lymphocyte response of the host to Aspergillus fumigatus antigens.
CINICOLA, BIANCA LAURA +3 more
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Bioactive Thymosin Alpha-1 Does Not Influence F508del-CFTR Maturation and Activity. [PDF]
, 2019 Deletion of phenylalanine 508 (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel is the most frequent mutation causing cystic fibrosis (CF). F508del-CFTR is misfolded and prematurely degraded. Recently thymosin a-1 (
Armirotti, Andrea +13 more
core
A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]
, 2017 Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella +10 more
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The Journal of the Royal College of Physicians of Edinburgh, 2013 There are now more adult than paediatric cystic fibrosis (CF) patients and their life expectancy continues to improve. This means that CF patients will be more commonly encountered in a variety of hospital settings including fertility services, gastrointestinal (GI) clinics, diabetes clinics, surgical wards, and acute admissions.
A E, Leitch, H C, Rodgers
openaire +2 more sources
Molecular Biology of the Cell, 2016 More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes.
Gudio Veit +17 more
semanticscholar +1 more source
Case Reports in Infectious Diseases, 2015 Introduction. P. aeruginosa is the primary cause for pulmonary destruction and premature death in cystic fibrosis (CF). Therefore, prevention of airway colonization with the pathogen, ubiquitously present in water, is essential.
Jochen G. Mainz +8 more
doaj +1 more source
Assembly and functional analysis of an S/MAR based episome with the cystic fibrosis transmembrane conductance regulator gene [PDF]
, 2018 Improving the efficacy of gene therapy vectors is still an important goal toward the development of safe and efficient gene therapy treatments. S/MAR (scaffold/matrix attached region)-based vectors are maintained extra-chromosomally in numerous cell ...
Ascenzioni, Fiorentina +10 more
core +2 more sources
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. [PDF]
, 2019 The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease.
Aguiar +76 more
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Pneumothorax in cystic fibrosis [PDF]
Current Opinion in Pulmonary Medicine, 2003 Spontaneous pneumothorax is a common complication in patients with cystic fibrosis (CF). It is thought to occur more frequently in patients with more advanced disease. Recommendations on the management of pneumothorax in CF are based on retrospective analyses and reports from CF centers.
openaire +5 more sources