Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient

Background: Cystic fibrosis (CF) is caused by a wide spectrum of mutations in the CF transmembrane conductance regulator (CFTR) gene, with some leading to non-classical clinical presentations. We present an integrated in vivo, in silico and in vitro investigation of an individual with CF carrying th...

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Detalles Bibliográficos
Autores principales: Allan, Katelin M., Astore, Miro A., Kardia, Egi, Wong, Sharon L., Fawcett, Laura K., Bell, Jessica L., Visser, Simone, Chen, Po-Chia, Griffith, Renate, Jaffe, Adam, Sivam, Sheila, Vittorio, Orazio, Kuyucak, Serdar, Waters, Shafagh A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267335/
https://www.ncbi.nlm.nih.gov/pubmed/37325471
http://dx.doi.org/10.3389/fmolb.2023.1148501

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