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CFTR is a modulator of airway inflammation
American Journal of Physiology-Lung Cellular and Molecular Physiology, 2007although it has been 17 years since the identification of the cystic fibrosis transmembrane ion receptor (CFTR) gene and protein, it remains enigmatic how abnormalities in CFTR can cause chronic and persistent pulmonary infection and inflammation that lead to bronchiectasis and end-stage ...
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Splicing Modulation as a Modifier of the CFTR Function
2006A 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
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Unmasking hereditary hemochromatosis with CFTR modulator therapy
Journal of Clinical Images and Medical Case Reports, 2022Cystic Fibrosis (CF) is a genetic condition affecting the ability to excrete chloride, resulting in multi-system organ damage. Liver disease is one co-morbidity that affects 20-40% of people with CF. This case describes a 16-year-old male with CF (F508Del and Q493X mutations) who was started one lexacaftor/tezacaftor/ifacaftortriple CF Transmembrane ...
Richard Wong, DO +2 more
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Discovery of CFTR modulators for the treatment of cystic fibrosis
Expert Opinion on Drug Discovery, 2021Cystic fibrosis (CF) is a life-threatening inherited disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel expressed at the apical membrane of secretory epithelia. CF leads to multiorgan dysfunction with progressive deterioration of lung function being the major cause of untimely ...
Miquéias Lopes-Pacheco +2 more
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Impact of interruption of CFTR modulator therapies
Journal of Cystic FibrosisNovel drug therapy targeting the defective cystic fibrosis transmembrane conductance regulator protein has the potential to significantly enhance the quality of life for numerous patients with cystic fibrosis. However, in some countries social insurance does not pay for modulators because these drugs are extremely expensive.
Burcu, Capraz Yavuz +12 more
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CFTR Modulator Therapy for Cystic Fibrosis
New England Journal of Medicine, 2017Cystic 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 ...
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CFTR Modulators for the Gastroenterologist
Journal of Pediatric Gastroenterology and Nutrition, 2023Sabina, Sabharwal, Sarah Shrager, Lusman
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Modulation of CFTR chloride channels by calyculin A and genistein
American Journal of Physiology-Cell Physiology, 1997Modulation of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel by calyculin A and genistein was studied in Hi-5 insect cells infected with baculovirus containing the wild-type CFTR cDNA. In cell-attached patches, CFTR channel activity was not observed until stimulated by forskolin in 90% of the cells, suggesting a low level ...
I C, Yang +4 more
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Expanding CFTR Modulator Testing to Carriers of CFTR Variants
Annals of the American Thoracic Society, 2021Preston E, Bratcher, Pamela L, Zeitlin
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Triple CFTR Modulator Therapy for Cystic Fibrosis
New England Journal of Medicine, 2018Cystic fibrosis is one of the most common life-threatening autosomal recessive disorders, affecting approximately 80,000 children and adults worldwide.1 It is caused by mutations that result in deficient or defective function of the cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel that is normally present in epithelial ...
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