Results 71 to 80 of about 1,046,440 (397)

Elexacaftor/Tezacaftor/Ivacaftor Efficacy in a Cohort of Italian Patients with CFTR Rare Mutations

International Journal of Translational Medicine
Background: 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, Sonia Volpi, Mirco Ros, Benedetta Fabrizzi, Ilaria Meneghelli, Marica Bordicchia, Francesca Buniotto, Alessia Lancini, Cecilia Brignole, Francesca Pauro, Valentino Bezzerri, Marco Cipolli   +11 more
doaj   +1 more source

CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates

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, Jae Seok Yoon, Zhongying Yang, William R. Skach   +3 more
doaj   +1 more source

In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis

Science Translational Medicine, 2019
In utero and early postnatal functional rescue of cystic fibrosis transmembrane conductance regulator improves survival in cystic fibrosis ferrets. Tackling cystic fibrosis in the womb Cystic fibrosis (CF) is a multiorgan disease caused by mutations in ...
Xingshen Sun, Y. Yi, Ziying Yan, B. H. Rosen, B. Liang, M. Winter, T. Evans, P. Rotti, Yu Yang, Jaimie S. Gray, Soo‐Yeun Park, Weihong Zhou, Yulong Zhang, S. Moll, Lisa Woody, Dao Tran, Licong Jiang, A. Vonk, J. Beekman, P. Negulescu, F. van Goor, D. Fiorino, K. Gibson-Corley, J. Engelhardt   +23 more
semanticscholar   +1 more source

Inhalable Hsa‐miR‐30a‐3p Liposomes Attenuate Pulmonary Fibrosis

Advanced Science, EarlyView.
The study explores inhalable hsa‐miR‐30a‐3p‐loaded liposomes as a treatment for bleomycin‐induced pulmonary fibrosis in mice. Hsa‐miR‐30a‐3p is electroporated into liposomes and formulated into a dry powder for inhalation. Delivered via dry powder inhalation, it improves pulmonary function, promotes myofibroblast de‐differentiation by targeting CNPY2 ...
Shuo Liu, Kristen D. Popowski, Christina M. Eckhardt, Weihang Zhang, Junlang Li, Yujia Jing, Dylan Silkstone, Elizabeth Belcher, Megan Cislo, Shiqi Hu, Halle Lutz, Asma Ghodsi, Mengrui Liu, Phuong‐Uyen C. Dinh, Ke Cheng   +14 more
wiley   +1 more source

The protective effects of rutin on the liver, kidneys, and heart by counteracting organ toxicity caused by synthetic and natural compounds

Food Science &Nutrition, Volume 11, Issue 1, Page 39-56, January 2023., 2023
Rutin is a flavonoid present in many plant species. Because of its antioxidant, anti‐inflammatory, and anti‐apoptotic properties, rutin is of interest for its potential protective effects against toxic agents. Rutin has potential therapeutic effectiveness against several toxicants, and its beneficial effects are more than likely mediated by its ...
Sohrab Rahmani, Karim Naraki, Ali Roohbakhsh, A. Wallace Hayes, Gholamreza Karimi   +4 more
wiley   +1 more source

Impact of Achromobacter xylosoxidans isolation on the respiratory function of adult patients with cystic fibrosis

ERJ Open Research, 2019
Background The prevalence of Achromobacter xylosoxidans lung isolation in cystic fibrosis (CF) patients has increased, but the impact on lung function is controversial. The aim of this study was to evaluate the long-term effects of A.
Macha Tetart, Frederic Wallet, Maeva Kyheng, Sylvie Leroy, Thierry Perez, Olivier Le Rouzic, Benoit Wallaert, Anne Prevotat   +7 more
doaj   +1 more source

A multimodal iPSC platform for cystic fibrosis drug testing

Nature Communications, 2022
Hundreds of mutations in the gene CFTR lead to cystic fibrosis and represent a challenge to developing therapeutics. Here, authors demonstrate the ability of airway cells derived from human iPSCs to model genotype-specific CFTR function as well as ...
Andrew Berical, Rhianna E. Lee, Junjie Lu, Mary Lou Beermann, Jake A. Le Suer, Aditya Mithal, Dylan Thomas, Nicole Ranallo, Megan Peasley, Alex Stuffer, Katherine Bukis, Rebecca Seymour, Jan Harrington, Kevin Coote, Hillary Valley, Killian Hurley, Paul McNally, Gustavo Mostoslavsky, John Mahoney, Scott H. Randell, Finn J. Hawkins   +20 more
doaj   +1 more source

Early Experiences with Crowdsourcing Airway Annotations in Chest CT [PDF]

LABELS 2016, DLMIA 2016: Deep Learning and Data Labeling for Medical Applications pp 209-218, 2017
Measuring airways in chest computed tomography (CT) images is important for characterizing diseases such as cystic fibrosis, yet very time-consuming to perform manually. Machine learning algorithms offer an alternative, but need large sets of annotated data to perform well.
arxiv   +1 more source

Specific Antibodies to Recombinant Allergens of \u3cem\u3eAspergillus fumigatus\u3c/em\u3e in Cystic Fibrosis Patients with ABPA [PDF]

, 2006
Background Aspergillus fumigatus, a widely distributed fungus, has been implicated in causing life threatening infections as well as severe asthma and allergic diseases in man.
Bansal, Naveen K., Knutsen, Alan P., Kurup, Viswanath P., Moss, Richard B.   +3 more
core   +1 more source

Genetic Determinants and Epidemiology of Cystic Fibrosis–Related Diabetes: Results from a British cohort of children and adults [PDF]

, 2008
OBJECTIVE—Longer survival of patients with cystic fibrosis has increased the occurrence of cystic fibrosis–related diabetes (CFRD). In this study we documented the incidence of CFRD and evaluated the association between mutations responsible for cystic ...
A. I. Adler, Adler, Ahmed, B. S.F. Shine, Boom, C. S. Haworth, Cucinotta, D. Bilton, Dominguez-Garcia, Hamdi, HANKINSON, Hsia, Koch, Koch, Lanng, Littlewood, Marshall, McKone, Milla, Moran, Mulberg, Nousia-Arvanitakis, P. Chamnan, Rosenecker, Rosenecker, Rosenfeld, Sims, Stalvey   +27 more
core   +2 more sources