Results 161 to 170 of about 5,299 (208)

Splicing Modulation as a Modifier of the CFTR Function

2006
A significant fraction of CF-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splicing regulation as a genetic modifier.
Malka, Nissim-Rafinia, Batsheva, Kerem
openaire   +2 more sources

Expanding CFTR Modulator Testing to Carriers of CFTR Variants

Annals of the American Thoracic Society, 2021
Preston E, Bratcher, Pamela L, Zeitlin
openaire   +2 more sources

CFTR Modulator Therapy for Cystic Fibrosis

New England Journal of Medicine, 2017
Cystic fibrosis is a disease of abnormal ion transport through epithelium that results in progressive lung disease as well as the involvement of other organs including the pancreas, gut, and liver. Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), and inheritance is autosomal ...
openaire   +2 more sources

Fertility, Pregnancy and Lactation Considerations for Women with CF in the CFTR Modulator Era

Journal of Personalized Medicine, 2021
Raksha Jain, Jennifer Taylor-Cousar, Jain Raksha   +2 more
exaly  

A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants

Journal of Personalized Medicine, 2021
Tony Velkov, Guido Veit, Gergely Lukács   +2 more
exaly  

Olfactory dysfunction in cystic fibrosis: Impact of CFTR modulator therapy

Journal of Cystic Fibrosis, 2022
Daniel Beswick, Eszter Vladar, Stephen M Humphries   +2 more
exaly  

Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis

International Journal of Molecular Sciences, 2023
Mirjam Stahl, Stephanie Thee, Anita Balázs   +2 more
exaly  

Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants

Journal of Cystic Fibrosis, 2022
Karen Raraigh, Johanna Rommens
exaly  

CFTR modulator therapy alters plasma sphingolipid profiles in people with cystic fibrosis

Journal of Cystic Fibrosis, 2022
Fabian Schumacher, Sebastian Reuter, Burkhard Kleuser   +2 more
exaly  

Drug-drug interactions with CFTR modulator therapy in cystic fibrosis: Focus on Trikafta®/Kaftrio®

Journal of Cystic Fibrosis, 2023
Smita Pakhale, Salmaan Kanji, Tsz Shan Wong   +2 more
exaly