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• W4229443753 abstract "Although talking about cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction has traditionally been synonymous with talking about cystic fibrosis (CF) (even the name of the disease itself is included in the name of the molecule), it should be remembered that the term really refers to a continuous spectrum of alterations in the amount and/or function of CFTR, whose genetic basis is known in greater detail and explain, at least in part, the great heterogeneity of CF [ 1 Diab Cáceres L Girón Moreno RM Caballero Sánchez-Robles P Cystic fibrosis: quality of life and radiological monitoring. Arch Bronconeumol (Engl Ed). 2020; https://doi.org/10.1016/j.arbres.2020.12.004 Crossref Scopus (1) Google Scholar , 2 Sharma N Cutting GR The genetics and genomics of cystic fibrosis. J Cyst Fibros. 2020; 19: S5-S9 Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar , 3 Diab Cáceres L Girón Moreno RM García Castillo E Pastor Sanz MT Olveira C García Clemente M et al. Effect of sex differences on computed tomography findings in adults with cystic fibrosis: a multicenter study. Arch Bronconeumol (Engl Ed). 2021; https://doi.org/10.1016/j.arbres.2019.12.028 Crossref PubMed Scopus (4) Google Scholar ]. At the most severe end of this spectrum lies the loss of function in both copies of the CFTR gene that will cause severe CF while partial reductions in its activity (for example, due to the presence of a deleterious variant) could go unnoticed or have clinical consequences that cannot be classified under the concept of CF [ [4] Bombieri C Claustres M De Boeck K Derichs N Dodge J Girodon E et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cystic Fibrosis. 2011; 10: S86-S102 Abstract Full Text PDF PubMed Scopus (308) Google Scholar ]." @default.
• W4229443753 created "2022-05-11" @default.
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• W4229443753 date "2022-09-01" @default.
• W4229443753 modified "2023-09-30" @default.
• W4229443753 title "CFTR dysfunction and targeted therapies: A vision from non-cystic fibrosis bronchiectasis and COPD" @default.
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• W4229443753 doi "https://doi.org/10.1016/j.jcf.2022.04.018" @default.
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