Results 131 to 140 of about 1,132,527 (387)

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

The complexities of elexacaftor/tezacaftor/ivacaftor therapeutic drug monitoring in a person with cystic fibrosis and Mycobacterium abscessus pulmonary disease

European Clinical Respiratory Journal
Therapeutic drug monitoring (TDM) of elexacaftor/tezacaftor/ivacaftor (ETI) remains challenging due to a lack of clarity around the parameters that govern ETI plasma concentrations, whilst the use of concomitant CYP3A inducers rifabutin and rifampicin is
Claire Y Mou, Daniel J Henderson, Angela G Matson, Karen M Herd, David W Reid, Timothy Riddles, Ellie Johnson, Brett McWhinney, Rebecca Swenson, Andrew Burke, Ieuan E S Evans   +10 more
doaj   +1 more source

Pseudomonas aeruginosa Acquisition in Cystic Fibrosis Patients in Context of Otorhinolaryngological Surgery or Dentist Attendance: Case Series and Discussion of Preventive Concepts

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, Andrea Gerber, Michael Lorenz, Ruth Michl, Julia Hentschel, Anika Nader, James F. Beck, Mathias W. Pletz, Andreas H. Mueller   +8 more
doaj   +1 more source

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants. [PDF]

, 2019
Available CFTR modulators provide no therapeutic benefit for cystic fibrosis (CF) caused by many loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel, including N1303K. We previously introduced the
Finkbeiner, Walter E, Haggie, Peter M, Nielson, Dennis W, Phuan, Puay-Wah, Rivera, Amber A, Tan, Joseph-Anthony, Verkman, Alan S, Zlock, Lorna   +7 more
core  

Diversity of the parB and repA genes of the Burkholderia cepacia complex and their utility for rapid identification of Burkholderia cenocepacia [PDF]

, 2008
Background: Burkholderia cenocepacia is the most prominent species of the B. cepacia complex (Bcc), a group of nine closely related and difficult to identify bacteria that cause serious infections in patients with cystic fibrosis.
Baldwin, Adam, Dowson, Christopher G., Drevinek, Pavel, Mahenthiralingam, Eshwar   +3 more
core   +5 more sources

Differential effects of the cystic fibrosis lung inflammatory environment on mesenchymal stromal cells [PDF]

, 2020
Soraia C. Abreu, Thomas H. Hampton, Evan T. Hoffman, Jacob Dearborn, Alix Ashare, Karatatiwant Singh Sidhu, Dwight E. Matthews, David H. McKenna, Eyal Amiel, Jayita Barua, Anna Krasnodembskaya, Karen English, Bernard P. Mahon, Claúdia C. dos Santos, Fernanda Ferreira Cruz, Daniel C. Chambers, Kathleen D. Liu, Michael A. Matthay, Robert A. Cramer, Bruce A. Stanton, Patrícia R. M. Rocco, Matthew J. Wargo, Daniel J. Weiss, Sara Rolandsson Enes   +23 more
openalex   +1 more source

Design and methods for understanding the state of cystic fibrosis care amid the COVID-19 pandemic [PDF]

, 2021
Christopher F. Dowd, Aricca D. Van Citters, O. Dieni, Anne Willis, Leslie Powell, Kathryn A. Sabadosa   +5 more
openalex   +1 more source

From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

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, R. Avramescu, Annette N. Chiang, Scott A. Houck, Z. Cai, K. Peters, Jeong-Soo Hong, H. Pollard, W. Guggino, W. Balch, W. Skach, G. Cutting, R. Frizzell, D. Sheppard, D. Cyr, E. Sorscher, J. Brodsky, G. Lukács   +17 more
semanticscholar   +1 more source

Eosinophil Peroxidase as a Dynamic Indicator of Treatment Response in Eosinophilic Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Eosinophil peroxidase (EPX) in nasal mucus correlates with markers of type 2 inflammation and tissue eosinophilia in chronic rhinosinusitis (CRS). This study evaluated EPX as a dynamic biomarker across treatment modalities and its potential prognostic value in eosinophilic CRS.
Jacquelyn K. Callander, Annabelle R. Charbit, Camryn Marshall, Kritika Khanna, Steven D. Pletcher, Jose G. Gurrola II, Andrew H. Murr, Monica Tang, Andrew N. Goldberg, Patricia A. Loftus   +9 more
wiley   +1 more source