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2020 | 1 |
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In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.
Pediatr Pulmonol. 2017 Apr;52(4):472-479. doi: 10.1002/ppul.23659. Epub 2017 Jan 9.
Pediatr Pulmonol. 2017.
PMID: 28068001
Free PMC article.
Clinical Trial.
Increased chloride current in HNE cultures among subjects with decreased sweat chloride concentrations may predict clinical response to ivacaftor. Ivacaftor can increase sweat chloride concentration in certain mutations with unclear clinical effect. ...
Increased chloride current in HNE cultures among subjects with decreased sweat chloride concentrations may predict clinical response …
G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.
Fidler MC, Buckley A, Sullivan JC, Statia M, Boj SF, Vries RGJ, Munck A, Higgins M, Moretto Zita M, Negulescu P, van Goor F, De Boeck K.
Fidler MC, et al.
Clin Transl Sci. 2021 Mar;14(2):656-663. doi: 10.1111/cts.12927. Epub 2020 Dec 6.
Clin Transl Sci. 2021.
PMID: 33278322
Free PMC article.
Clinical Trial.
Intestinal organoids derived from rectal biopsy specimens were used to assess ivacaftor response ex vivo and conduct messenger RNA splice and protein analyses. No consistent or meaningful trends were observed between on-treatment and off-treatment clinical as …
Intestinal organoids derived from rectal biopsy specimens were used to assess ivacaftor response ex vivo and conduct messenger …
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Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi (Lumacaftor and Ivacaftor) response in vitro.
Santos LG, Pereira SV, Kmit AHP, Bonadia LC, Bertuzzo CS, Ribeiro JD, Mazzola TN, Marson FAL.
Santos LG, et al.
Gene. 2023 Jun 30;871:147428. doi: 10.1016/j.gene.2023.147428. Epub 2023 Apr 15.
Gene. 2023.
PMID: 37068695
METHODS: Sanger sequencing for the exons and intron-exon boundary junctions of the SLC26A9 gene was employed in nine individuals with p.Phe508del homozygous genotype for the CFTR gene who were not under CFTR modulators therapy. The sequencing variants were evaluated by in silico …
METHODS: Sanger sequencing for the exons and intron-exon boundary junctions of the SLC26A9 gene was employed in nine individuals with p.Phe5 …
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