Articles with "rare cftr" as a keyword



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Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers

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Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12040632

Abstract: Background: The effect of presently available CFTR modulator combinations, such as elexacaftor (ELX), tezacaftor (TEZ), and ivacaftor (IVA), on rare CFTR alleles is often unknown. Several assays have been developed, such as forskolin-induced swelling (FIS),… read more here.

Keywords: medicine; iva; organoid derived; epithelial monolayers ... See more keywords