Results 21 to 30 of about 1,208,918 (256)

Organoid-guided synergistic treatment of minimal function CFTR mutations with CFTR modulators, roflumilast and simvastatin: a personalised approach. [PDF]

Eur Respir J, 2023
Extract Highly effective cystic fibrosis transmembrane conductance regulator (CFTR) protein-targeting modulator therapies (HEMTs) facilitate strong clinical improvements in a large proportion of people with cystic fibrosis (CF) [1, 2]. More specifically,
Spelier S, de Winter-de Groot K, Keijzer-Nieuwenhuijze N, Liem Y, van der Ent K, Beekman J, Kamphuis LS.   +6 more
europepmc   +2 more sources

The effect of CFTR modulators on structural lung disease in cystic fibrosis. [PDF]

Front Pharmacol, 2023
Background: Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available.
Mok LC, Garcia-Uceda A, Cooper MN, Kemner-Van De Corput M, De Bruijne M, Feyaerts N, Rosenow T, De Boeck K, Stick S, Tiddens HAWM.   +9 more
europepmc   +2 more sources

Treatment with CFTR Modulators for Cystic Fibrosis: What a Pediatric Gastroenterologist Needs to Know [PDF]

Children
Background: Cystic fibrosis (CF) is a multisystemic disorder caused by CFTR gene mutations, leading to impaired protein function and affecting pulmonary, gastrointestinal, hepatobiliary, skeletal, and nutritional health.
David Gonzalez Jimenez, Ruth García Romero, Alejandro Rodríguez Martínez, Saioa Vicente Santamaria   +3 more
doaj   +2 more sources

CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France

Cells, 2022
Cystic fibrosis (CF) is a rare genetic multisystemic disease, the manifestations of which are due to mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein and can lead to respiratory insufficiency and premature death ...
Lucile Regard, Clémence Martin, Espérie Burnet, Jennifer Da Silva, Pierre-Régis Burgel   +4 more
doaj   +2 more sources

Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression [PDF]

Science Translational Medicine, 2014
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane regulator (CFTR) that result in reduced anion conductance at the apical membrane of secretory epithelia.
Guido Veit, Puay-Wah Phuan, Miklos Bagdany   +2 more
exaly   +2 more sources

CFTR Modulators Restore Acidification of Autophago-Lysosomes and Bacterial Clearance in Cystic Fibrosis Macrophages

Frontiers in Cellular and Infection Microbiology, 2022
Cystic fibrosis (CF) human and mouse macrophages are defective in their ability to clear bacteria such as Burkholderia cenocepacia. The autophagy process in CF (F508del) macrophages is halted, and the underlying mechanism remains unclear.
Asmaa Badr, Asmaa Badr, Mostafa Eltobgy, Kathrin Krause, Kathrin Krause, Kaitlin Hamilton, Shady Estfanous, Shady Estfanous, Kylene P. Daily, Arwa Abu Khweek, Arwa Abu Khweek, Ahmad Hegazi, Midhun N. K. Anne, Cierra Carafice, Frank Robledo-Avila, Youssra Saqr, Xiaoli Zhang, Tracey L. Bonfield, Mikhail A. Gavrilin, Santiago Partida-Sanchez, Stephanie Seveau, Estelle Cormet-Boyaka, Amal O. Amer   +22 more
doaj   +2 more sources

CFTR Modulators Counteract F508del CFTR Functional Defects in a Pancreatic Epithelial Model of Cystic Fibrosis [PDF]

Life
Cystic fibrosis is a multisystem disorder caused by mutations in the CFTR gene that lead to impaired ion and fluid transport across secretory epithelia.
Alessandra Ludovico, Debora Baroni
doaj   +2 more sources

Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant. [PDF]

Int J Mol Sci
p.Asn1303Lys (N1303K) is a common missense variant of the CFTR gene, causing cystic fibrosis (CF). In this study, we initially evaluated the influence of CFTR modulators on the restoration of N1303K-CFTR function using intestinal organoids derived from ...
Efremova A, Kashirskaya N, Krasovskiy S, Melyanovskaya Y, Krasnova M, Mokrousova D, Bulatenko N, Kondratyeva E, Makhnach O, Bukharova T, Zinchenko R, Kutsev S, Goldshtein D.   +12 more
europepmc   +2 more sources

Macroenzymes as a reason for aminotransferases flare in cystic fibrosis patients on CFTR modulators therapy – Report of three cases [PDF]

Heliyon
It has been shown that macro-ALT/macro-AST cause false increase of ALT/AST activity in standard laboratory testing.This short communication presents a group of cystic fibrosis subjects who developed aminotranferases flare a few months after initiation of
Marek Woynarowski, Ewa Sapiejka, Maria Jóźwiak, Justyna Milczewska, Katarzyna Zybert, Adam Krusiński, Jan Siwiec, Aldona Wierzbicka-Rucińska   +7 more
doaj   +2 more sources

S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models

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, Katelin M. Allan, Miro A. Astore, Laura K. Fawcett, Laura K. Fawcett, Laura K. Fawcett, Sharon L. Wong, Sharon L. Wong, Po-Chia Chen, Renate Griffith, Adam Jaffe, Adam Jaffe, Adam Jaffe, Serdar Kuyucak, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters   +17 more
doaj   +3 more sources