Article

<i>In Vitro</i> Modulator Responsiveness of 655 <i>CFTR</i> Variants Found in People With CF

2023-07-11

Abstract excerpt

<h4>Background</h4> In 2017, the US Food and Drug Administration initiated expansion of drug labels for the treatment of cystic fibrosis (CF) to include CF transmembrane conductance regulator (CFTR) gene variants based on in vitro functional studies. This study aims to identify CFTR variants that result in increased chloride (Cl - ) transport function by the CFTR protein after treatment with the CFTR-modulator...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6ce3832e-71be-5744-813e-d056e1f3dd1f
DOI: 10.1101/2023.07.07.548159

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>In Vitro</i> Modulator Responsiveness of 655 <i>CFTR</i> Variants Found in People With CFDOI 10.1101/2023.07.07.548159Read

Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis.Semantic proximity Read

Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two<i>F508del</i>allelesSemantic proximity Read

CFTR Modulators: Current Status and Evolving Knowledge.Semantic proximity Read

Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination.Semantic proximity Read

Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literatureSemantic proximity Read

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptomsSemantic proximity Read

Characterization of two ultra-rare CFTR variants, P.Leu999del and P.Glu1104Lys, with unknown theratyping profiles.Semantic proximity Read

Safety and efficacy of the cystic fibrosis transmembrane conductance regulator potentiator icenticaftor (QBW251).Semantic proximity Read

The era of CFTR modulators: improvements made and remaining challengesSemantic proximity Read

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.Semantic proximity Read

Effects of Elexacaftor/Tezacaftor/Ivacaftor Therapy on CFTR Function in Patients with Cystic Fibrosis and One or Two F508del Alleles.Semantic proximity Read

Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.Semantic proximity Read