Results 21 to 30 of about 156,262 (248)
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
doaj +1 more source
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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Validating the Data Completeness and Accuracy of the Canadian Cystic Fibrosis Registry
Canadian Respiratory JournalConclusion: Our validation of the CCFR demonstrated high accuracy for clinical and demographic variables used in clinical research.
Ranjani Somayaji +9 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj +23 more
wiley +1 more source
ERJ Open Research, 2022 Background Increasing awareness of milder presentations of cystic fibrosis (CF) and greater interest in non-CF bronchiectasis are likely to lead to more CF screening by respiratory clinicians. As a result, adults who may not strictly fulfil CF diagnostic
Alessandro N. Franciosi +8 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz +9 more
wiley +1 more source
Nature Communications, 2020 Cystic fibrosis (CF) is a lethal genetic disease that is primarily caused by misfolding of the cystic fibrosis transmembrane conductance regulator (CFTR). Here authors show that disease-causing mutations located within the first nucleotide binding domain
Hideki Shishido +3 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.An innovative, lightweight 3D‐printed skinfold chamber system is presented for long‐term intravital imaging. This affordable, biocompatible platform simplifies surgical implantation and allows high‐resolution, multimodal visualization of the tumor microenvironment for up to four weeks.
Iván Cortés Domínguez +9 more
wiley +1 more source
Elexacaftor/Tezacaftor/Ivacaftor Efficacy in a Cohort of Italian Patients with CFTR Rare Mutations
International Journal of Translational MedicineBackground: Cystic Fibrosis is an inherited disorder caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene, encoding a chloride and bicarbonate channel widely expressed in epithelia.
Francesca Lucca +11 more
doaj +1 more source