Results 21 to 30 of about 10,277 (199)
Frontiers in Pediatrics, 2022 Cystic Fibrosis (CF) results from over 400 different disease-causing mutations in the CF Transmembrane Conductance Regulator (CFTR) gene. These CFTR mutations lead to numerous defects in CFTR protein function.
Katelin M. Allan +17 more
doaj +1 more source
Biomolecules, 2023 Recent developments in CFTR modulator drugs have had a significant transformational effect on the treatment of individuals with Cystic Fibrosis (CF) who carry the most frequent F508del-CFTR mutation in at least one allele.
Patrícia Barros +3 more
doaj +1 more source
CFTR Modulator Therapy for Rare CFTR Mutants
Journal of Respiration, 2022 Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe ...
Marco Mergiotti +3 more
doaj +1 more source
Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis
Life Science Alliance, 2023 Ussing chamber studies of intestinal organoid monolayers compare favorably to established preclinical tools to assess individual responses to CFTR modulator drugs in people with cystic fibrosis.
Liron Birimberg-Schwartz +13 more
doaj +1 more source
Children, 2023 Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) is a new CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulator treatment, used over the last few years, which has shown an improvement in different clinical outcomes in patients with cystic ...
Nikoletta Kapouni +3 more
doaj +1 more source
Proceedings: Regenerative Medicine for Lung Diseases: A CIRM Workshop Report. [PDF]
, 2017 The mission of the California Institute of Regenerative Medicine (CIRM) is to accelerate treatments to patients with unmet medical needs. In September 2016, CIRM sponsored a workshop held at the University of California, Los Angeles, to discuss ...
DeWitt, Natalie D +2 more
core +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis +7 more
wiley +1 more source
Advances in bronchiectasis:endotyping, genetics, microbiome, and disease heterogeneity [PDF]
, 2018 Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the radiographic demonstration of airway enlargement is the common feature of a heterogeneous set of conditions and clinical presentations.
Chalmers, James D. +2 more
core +2 more sources
Chronic rhinosinusitis in patients with cystic fibrosis—Current management and new treatments
Laryngoscope Investigative Otolaryngology, 2020 Objectives The purpose of this article is to provide a state‐of‐the‐art review of the literature and summarize the latest publications on medical and surgical treatment of cystic fibrosis (CF) chronic rhinosinusitis (CRS), with an emphasis on describing ...
Brian Jake Johnson +2 more
doaj +1 more source
Rescue of Murine F508del CFTR Activity in Native Intestine by Low Temperature and Proteasome Inhibitors [PDF]
, 2012 Most patients with Cystic Fibrosis (CF) carry at least one allele with the F508del mutation, resulting in a CFTR chloride channel protein with a processing, gating and stability defect, but with substantial residual activity when correctly sorted to the ...
Bot, A.G. (Alice) +4 more
core +10 more sources