Molecular Therapy: Nucleic AcidsNonsense or premature termination codon (PTC) variants of the CFTR gene are pathogenic and found in ∼10% of North American people with cystic fibrosis.
Normand E. Allaire +15 more
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Frontiers in Cellular and Infection Microbiology, 2011 IntroductionOrganisms of the Burkholderia cepacia complex (BCC) are important pathogens in cystic fibrosis (CF). The majority of those who acquire BCC develop chronic infection but it can also result in rapid decline in a significant minority.
Alex eHorsley +7 more
doaj +1 more source
Six minute walk test in Italian children with cystic fibrosis aged 6 and 11
Monaldi Archives for Chest Disease, 2021 Six Minute Walk Test (6MWT) is a field exercise test widely used in clinical practice, both in adults and in pediatric patients. The primary aim of the study is to evaluate the physical performance of the subjects and compare them with the predicted ...
Diletta Innocenti +11 more
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Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis [PDF]
, 2018 BACKGROUND: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years.
Farrell, Philip M. +3 more
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How are the ancient cystic fibrosis patients? Cystic fibrosis diagnosed over 60 years-old
Respiratory Medicine Case Reports, 2017 Background and aims: To specify the prevalence of patients diagnosed with CF at age of ≥60 year-old and to analyze their characteristics. Patients and methods: Observational study of CF patients which were diagnosed at age ≥60 year-old.
C. Prados +10 more
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Does cystic fibrosis constitute an advantage in COVID-19 infection?
Italian Journal of Pediatrics, 2020 The Veneto region is one of the most affected Italian regions by COVID-19. Chronic lung diseases, such as chronic obstructive pulmonary disease (COPD), may constitute a risk factor in COVID-19. Moreover, respiratory viruses were generally associated with
Valentino Bezzerri +3 more
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A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion
Nature Communications, 2021 Premature termination codons can cause early translation termination and lead to disease. Here the authors perform a screen to identify compounds with readthrough activity and show that these reduce eRF1 levels to suppress premature termination ...
Jyoti Sharma +29 more
doaj +1 more source
Social interactions in the Burkholderia cepacia complex : biofilms and quorum sensing [PDF]
, 2010 Burkholderia cepacia complex bacteria are opportunistic pathogens that cause respiratory tract infections in susceptible patients, mainly people with cystic fibrosis. There is convincing evidence that B.
Coenye, Tom
core +2 more sources
Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis [PDF]
, 2014 CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms.
Alkaade, Samer +26 more
core +4 more sources
Acceptance and well-being in adolescents and young adults with cystic fibrosis: a prospective study [PDF]
, 2011 Objective To prospectively investigate the role of acceptance in well-being in adolescents and young adults with cystic fibrosis (CF). Method A total of 40 adolescents and young adults with CF (ages 14-22 years) completed questionnaires assessing ...
Casier, Annabelle +6 more
core +2 more sources