Results 211 to 220 of about 7,856 (243)

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
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Unmasking hereditary hemochromatosis with CFTR modulator therapy

Journal of Clinical Images and Medical Case Reports, 2022
Cystic 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, Roberts, Abigail, Michelle Condren, PharmD   +2 more
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Effects on growth, weight and body composition after CFTR modulators in children with cystic fibrosis

Pediatric Pulmonology
Cystic Fibrosis (CF) is associated with compromised nutrition status, which is responsible for morbidity and mortality along with lung function decline. This study was designed to examine changes in anthropometric markers and body composition parameters ...
C.M. López Cárdenes, A. Cañete, S. V. Santamaria, C. G. Galindo, N. Sanz, A. González, E. B. Castro, A. Tirado, M. G. García, M. Rozas, T. Riesgo, M. Beltrán, JR. Gutiérrez Martínez, M. S. González, R. G. Romero, A. Hernandez, Mr., Muñoz Codoceo, C. Fernández, C. Gómez, E. T. Rubio, P. Pérez, I. L. Eseverri, C. Volpe, E. S. Lobato, A. M. Rivada, A. Millan, R. Del, Brio Castillo, S. Sierra, S. Nicolás, M. M. Hurtado, E. C. Gaudiza, M. M. Martinez, D. Jiménez   +34 more
semanticscholar   +1 more source

Impact of interruption of CFTR modulator therapies

Journal of Cystic Fibrosis
Novel 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, Ebru, Yalcin, Halime, Nayir Buyuksahin, Birce, Sunman, Ismail, Guzelkas, Didem, Alboga, Meltem, Akgul Erdal, Havva Ipek, Demir, Raziye, Atan, Nagehan, Emiralioglu, Deniz, Dogru, Ugur, Ozcelik, Nural, Kiper   +12 more
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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 ...
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CFTR Modulators for the Gastroenterologist

Journal of Pediatric Gastroenterology and Nutrition, 2023
Sabina, Sabharwal, Sarah Shrager, Lusman
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Modulation of CFTR chloride channels by calyculin A and genistein

American Journal of Physiology-Cell Physiology, 1997
Modulation 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, T H, Cheng, F, Wang, E M, Price, T C, Hwang   +4 more
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Expanding CFTR Modulator Testing to Carriers of CFTR Variants

Annals of the American Thoracic Society, 2021
Preston E, Bratcher, Pamela L, Zeitlin
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Triple CFTR Modulator Therapy for Cystic Fibrosis

New England Journal of Medicine, 2018
Cystic 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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The future of CFTR modulating therapies for cystic fibrosis

Current Opinion in Pulmonary Medicine, 2015
Huge progress has been made over the last few years in the field of small molecule therapies targeting cystic fibrosis transmembrane conductance regulator (CFTR), the protein defective in patients with cystic fibrosis. This review describes the progress and areas of future research.Ivacaftor is the first drug of its kind to be licensed for clinical use
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