Introduction/Aims
[1] Stern RC (1997). The Diagnosis of Cystic Fibrosis. N Engl J Med, 336: 487-491.
[2] Artificial Intelligence in Medicine. What is CF: The Roll of Genetics. https://cf-help.org/genetics.
[3] University of Utah's Genetic Science Learning Center. Cystic Fibrosis. https://learn.genetics.utah.edu/content/genetics/cysticfibrosis.
Methods
[1] Clinical and Functional Translation of CFTR2. https://cftr2.org
[2] Witten IH, Frank E (2005). Data Mining: Practical Machine Learning Tools and Techniques, 2nd edition. Morgan Kaufmann, San Francisco.
Results/Discussion
[1] Vertex Pharmaceuticals (2018). Clinical Review Report: Lumacaftor/Ivacaftor (Orkambi). CADTH Common Drug Review, Canadian Agency for Drugs and Technologies in Health.
[2] Perisse IV, et al. (2021). Sheep models of F508del and G542X cystic fibrosis mutations show cellular responses to human therapeutics. FASEB Bioadv., 3(10): 841-854.
[3] Wang W, et al. (2016). Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators. PLoS One, 11(3).
[4] Bal J, et al. (1991). A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Med Genet., 28(10): 715-717.
[5] Sermet-Gaudelus I (2013). Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation. European Respiratory Review, 22: 66-71.
[6] Simon MA, Csanady L (2021). Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond. eLife, 10.
[7] DeStefano S, et al. (2018). Physiological and pharmacological characterization of the N1303K Mutant CFTR. J Cyst Fibros., 17(5): 573-581.
Conclusion
[1] Sweat Test. Cystic Fibrosis Foundation. https://www.cff.org/intro-cf/sweat-test.
[2] Ponce MC, et al. (2023). Pulmonary Function Tests. StatPearls.
[3] National Heart, Lung, and Blood Institute (NIH). Cystic Fibrosis: Diagnosis. https://www.nhlbi.nih.gov/health/cystic-fibrosis/diagnosis.