Login / Signup

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

Fabiana CicirielloMarcel J C BijveldsFederico AlghisiKelly F MeijsenLuca CristianiClaudio SorioPaola MelottiAlessandro Giovanni FiocchiVincenzina LucidiHugo R De Jonge
Published in: Journal of personalized medicine (2022)
transport. This technique can be explored to assess the functional consequences of rare CFTR mutations and the efficacy of CFTR modulators. We propose that this functional CFTR assay may guide personalized medicine in patients with CF-like clinical manifestations as well as in those carrying rare CFTR mutations.
Keyphrases
  • cystic fibrosis
  • small molecule
  • high throughput
  • rectal cancer
  • copy number
  • dna methylation
  • genome wide