Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis

Senne Cuyx,Sofia S Ramalho,Isabelle Callebaut,Harry Cuppens,Arthur Kmit,Kaline Arnauts,Marc Ferrante,Catherine Verfaillie,Marjolein Ensinck,Marianne S Carlon,Mieke Boon,Marijke Proesmans,Lieven Dupont,Kris De Boeck,Carlos M Farinha,François Vermeulen,Anabela S Ramalho

Journal of Cystic Fibrosis（2022）

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摘要

In vitro and in silico data show that the presence of F508C in cis with S1251N decreases CFTR function without affecting processing. Complex CFTR alleles play a role in clinical phenotype and their identification is relevant in the context of personalised medicine for each patient with CF.

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关键词

Cystic fibrosis,CFTR,Organoids,FIS assay,S1251N,F508C,Complex allele

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