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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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CFTR Modulators: Current Status and Evolving Knowledge
Seminars in Respiratory and Critical Care Medicine, 2022AbstractIn the past decade, the medical management of people with cystic fibrosis (pwCF) has changed with the development of small molecules that partially restore the function of the defective CF transmembrane conductance regulator (CFTR) protein and are called CFTR modulators.
Lucile, Regard +3 more
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WNK1 and WNK4 modulate CFTR activity
Biochemical and Biophysical Research Communications, 2007The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-gated chloride channel. WNK kinases are widely expressed modulators of ion transport. WNK1 and WNK4, two WNK kinases that are mutated in familial hyperkalemic hypertension (FHHt), are co-expressed with CFTR in several organs, raising the possibility that WNK kinases might alter ...
Chao-Ling, Yang +6 more
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CFTR Modulator Therapies for Cystic Fibrosis
Pediatric Allergy, Immunology, and Pulmonology, 2015The cloning of cystic fibrosis transmembrane conductance regulator (CFTR) set into motion a cascade of discoveries that have helped to reveal the underlying pathophysiologic basis of cystic fibrosis (CF). This discovery and the knowledge that followed have also provided the opportunity to target this basic defect, with the hope of reversing or ...
Aaron T, Trimble, Scott H, Donaldson
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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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Matrine modulates HSC70 levels and rescues ΔF508‐CFTR
Journal of Cellular Physiology, 2012AbstractCystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP‐dependent Cl− channel located in the plasma membrane, and its malfunction results in cystic fibrosis (CF), the most common lethal genetic disease in Caucasians. Most CF patients carry the deletion of Phe508 (ΔF508 mutation); this mutation prevents the delivery of the CFTR to ...
BASILE, ANNA +7 more
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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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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 Modulators for the Gastroenterologist
Journal of Pediatric Gastroenterology and Nutrition, 2023Sabina, Sabharwal, Sarah Shrager, Lusman
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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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