ArticleJournal of personalized medicine2022
Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers.
Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Integrating Human Intestinal Organoids into FDA's New Approach Methodologies for Drug Discovery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids.Orphanet journal of rare diseases · 2024Article
- Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.Life science alliance · 2023Article
- Patient-derived cell models for personalized medicine approaches in cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Review
- Lower Expression ofCancers · 2023Article
- Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.Frontiers in pharmacology · 2023Review
- Additive Potentiation of R334W-CFTR Function by Novel Small Molecules.Journal of personalized medicine · 2023Article
- Putting bicarbonate on the spot: pharmacological insights for CFTR correction in the airway epithelium.Frontiers in pharmacology · 2023Article
- Q1291H-CFTR molecular dynamics simulations andFrontiers in molecular biosciences · 2023Article
- Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.Children (Basel, Switzerland) · 2022Review
- Applications of human organoids in the personalized treatment for digestive diseases.Signal transduction and targeted therapy · 2022Review
- Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.Journal of personalized medicine · 2022Review
- A Cross-Sectional Study of the Marital Attitudes of Pregnant Women at Risk for Cystic Fibrosis and Psychological Impact of Prenatal Screening.International journal of environmental research and public health · 2022Article
- S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacyFrontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundThe effect of presently available CFTR modulator combinations, such as elexacaftor (ELX), tezacaftor (TEZ), and ivacaftor (IVA), on rare CFTR alleles is often unknown. Several assays have been developed, such as forskolin-induced swelling (FIS), to evaluate the rescue of such uncommon CFTR alleles both by established and novel modulators in patient-derived primary cell cultures (organoids). Presently, we assessed the CFTR-mediated electrical current across rectal organoid-derived epithelial monolayers. This technique, which allows separate measurement of CFTR-dependent chloride or bicarbonate transport, was used to assess the effect of ELX/TEZ/IVA on two rare CFTR variants.
methodsIntestinal organoid cultures were established from rectal biopsies of CF patients carrying the rare missense mutations E193K or R334W paired with F508del. The effect of the CFTR modulator combination ELX/TEZ/IVA on CFTR-mediated Cl
resultsELX/TEZ/IVA markedly enhanced CFTR-mediated bicarbonate and chloride transport across intestinal epithelium of both patients. Consistent with the rescue of CFTR function in cultured intestinal cells, ELX/TEZ/IVA therapy improved biomarkers of CFTR function in the R334W/F508del patient.
conclusionsCurrent measurements in organoid-derived intestinal monolayers can readily be used to monitor CFTR-dependent epithelial Cl
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.