Results 61 to 70 of about 1,459,532 (261)

A Review of Trikafta: Triple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulator Therapy

Cureus, 2021
Cystic fibrosis (CF) is a potentially fatal genetic disease that causes serious lung damage. With time, researchers have a more complete understanding of the molecular-biological defects that underlie CF.
Anas Zaher, Jude Elsaygh, Dalal H Elsori, Hassan Elsaygh, Abdulsabar Sanni   +4 more
semanticscholar   +1 more source

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

The Journal of Clinical Investigation, 2022
The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment ...
Rhianna E. Lee, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell   +15 more
doaj   +1 more source

CFTR Modulators: From Mechanism to Targeted Therapeutics

, 2022
People with cystic fibrosis (CF) suffer from a multi-organ disorder caused by loss-of-function variants in the gene encoding the epithelial anion channel cystic fibrosis transmembrane conductance regulator (CFTR). Tremendous progress has been made in both basic and clinical sciences over the past three decades since the identification of the CFTR gene.
Sheppard, David N, Yeh, Han-I, Sutcliffe, Katy, Hwang, Tzyh-Chang   +3 more
openaire   +3 more sources

Changes in glucose tolerance in people with cystic fibrosis after initiation of first‐generation CFTR modulator treatment

Pediatric Pulmonology, 2023
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have been shown to have a beneficial effect on pulmonary function and nutritional status in patients with cystic fibrosis (CF), but the extent to which they affect glucose tolerance is
R. Ekblond, B. Nielsen, C. Højte, T. Almdal, J. Shaw, T. Pressler, D. Faurholt-Jepsen, I. Mathiesen   +7 more
semanticscholar   +1 more source

Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

Pediatric Pulmonology, 2023
Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and
S. Uytun, Güzin Cinel, Sanem Eryilmaz Polat, S. Özkan Tabakçı, N. Kiper, E. Yalçın, Dilber Ademhan Tural, Beste Özsezen, V. Şen, Hadice Selimoğlu Şen, D. Ufuk Altıntaş, H. Çokuğraş, A. Kılınç, A. Başkan, H. Yazan, Abdulhamit Çollak, S. Uzuner, Gökçe Ünal, A. Yılmaz, H. Çağlar, E. Damadoğlu, I. Irmak, E. Demir, Gökçen Kartal Öztürk, A. Bingöl, E. Başaran, N. Sapan, Y. Canıtez, A. Tana Aslan, P. Asfuroğlu, K. Harmancı, M. Köse, M. Hangül, A. Özdemir, N. Çobanoğlu, G. Özcan, Ö. Keskin, H. Yüksel, Ş. Özdoğan, E. Topal, G. Çaltepe, D. Can, P. Korkmaz Ekren, M. Kiliç, Nagehan Emiralioğlu, Tuğba Şişmanlar Eyüboğlu, S. Pekcan, E. Çakır, U. Özçelik, D. Doğru   +49 more
semanticscholar   +1 more source

Effect of apical chloride concentration on the measurement of responses to CFTR modulation in airway epithelia cultured from nasal brushings

Physiological Reports, 2020
Introduction One method for assessing the in vitro response to CFTR‐modulating compounds is by analysis of epithelial monolayers in an Ussing chamber, where the apical and basolateral surfaces are isolated and the potential difference, short‐circuit ...
Preston E. Bratcher, Sangya Yadav, Ciaran A. Shaughnessy, Ian M. Thornell, Pamela L. Zeitlin   +4 more
doaj   +1 more source

Lived experiences of individuals with cystic fibrosis on CFTR-modulators

BMC Pulmonary Medicine, 2022
Background CFTR-modulators are a category of drugs that facilitate trafficking and opening of the abnormal CFTR protein in individuals with cystic fibrosis (CF) who have certain genetic mutations.
Annelise Page, Aaron Goldenberg, Anne L. Matthews   +2 more
doaj   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Impact of CFTR modulators on exercise capacity in adolescents with cystic fibrosis

ERJ Open Research
Background Exercise capacity is an independent predictor of clinical worsening in cystic fibrosis (CF). There is limited evidence of the impact of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on exercise capacity in children with
Molla Imaduddin Ahmed, Naomi Dayman, Natalie Blyth, Joe Madge, Erol Gaillard   +4 more
doaj   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source