Pseudo-Bartter syndrome: A CFTR-related disorder?

Autor: Rodriguez Mier N; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium. Electronic address: noelia.rodriguezmier@uzleuven.be., Antoons V; Department of Pediatrics, Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium., Cuyx S; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium., Santo Ramalho A; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium., Boon M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium., Proesmans M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium., Mekahli D; Department of Pediatrics, Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium; Department of Cellular and Molecular Medicine, PKD research group, KU Leuven, Leuven, Belgium., Vermeulen F; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2024 Oct 31. Date of Electronic Publication: 2024 Oct 31.

P071 Evaluation of CFTR modulator efficacy by rectal organoid morphology analysis (ROMA) indexes

Autor: Cuyx, S., Ramalho, A.S., Proesmans, M., Boon, M., Dupont, L., De Boeck, K., Vermeulen, F.

Publikováno v: In Journal of Cystic Fibrosis June 2023 22 Supplement 2:S85-S85

WS04.06 Validation of rectal organoid morphology analysis (ROMA) as a novel physiological CFTR assay for diagnosis of cystic fibrosis

Autor: Cuyx, S., Ramalho, A.S., Proesmans, M., Boon, M., Dupont, L., De Boeck, K., Vermeulen, F.

Publikováno v: In Journal of Cystic Fibrosis June 2023 22 Supplement 2:S9-S9

P025 Assessment of CFTR modulator combinations in rectal organoids from F508del homozygous patients with cystic fibrosis

Autor: Cuyx, S., Ramalho, A.S., Proesmans, M., Boon, M., Ensinck, M., Carlon, M.S., Dupont, L., De Boeck, K., Vermeulen, F.

Publikováno v: In Journal of Cystic Fibrosis June 2022 21 Supplement 1:S67-S67

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

Autor: Cuyx S; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium., Ramalho SS; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal., Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, F-75005 Paris, France., Cuppens H; Harelias BV, B-1000 Brussels, Belgium., Kmit A; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal., Arnauts K; Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; KU Leuven, Department of Development and Regeneration, Stem Cell Institute Leuven (SCIL), B-3000 Leuven, Belgium., Ferrante M; Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; KU Leuven, Department of Gastroenterology and Hepatology, University Hospital Leuven, B-3000 Leuven, Belgium., Verfaillie C; KU Leuven, Department of Development and Regeneration, Stem Cell Institute Leuven (SCIL), B-3000 Leuven, Belgium., Ensinck M; Laboratory for Molecular Virology and Drug Discovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium., Carlon MS; Laboratory for Molecular Virology and Drug Discovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium., Boon M; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium., Proesmans M; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium., Dupont L; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Respiratory Diseases, B-3000 Leuven, Belgium., De Boeck K; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium., Farinha CM; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal., Vermeulen F; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium., Ramalho AS; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2022 Jul; Vol. 21 (4), pp. 644-651. Date of Electronic Publication: 2022 Jun 09.