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Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis
S. Cuyx, AS. Ramalho, N. Corthout, S. Fieuws, E. Fürstová, K. Arnauts, M. Ferrante, C. Verfaillie, S. Munck, M. Boon, M. Proesmans, L. Dupont, K. De Boeck, F. Vermeulen, Belgian Organoid Project
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
ProQuest Central
od 1946-03-01 do Před 6 měsíci
Open Access Digital Library
od 1946-03-01
Health & Medicine (ProQuest)
od 1946-03-01 do Před 6 měsíci
- MeSH
- cystická fibróza * diagnostické zobrazování genetika MeSH
- lidé MeSH
- mutace MeSH
- organoidy * MeSH
- protein CFTR genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Diagnosing cystic fibrosis (CF) when sweat chloride is not in the CF range and less than 2 disease-causing CFTR mutations are found requires physiological CFTR assays, which are not always feasible or available. We developed a new physiological CFTR assay based on the morphological differences between rectal organoids from subjects with and without CF. In organoids from 167 subjects with and 22 without CF, two parameters derived from a semi-automated image analysis protocol (rectal organoid morphology analysis, ROMA) fully discriminated CF subjects with two disease-causing mutations from non-CF subjects (p<0.001). ROMA, feasible at all ages, can be centralised to improve standardisation.
Department for Neuroscience KU Leuven Leuven Flanders Belgium
Department of Chronic Diseases and Metabolism KU Leuven Leuven Flanders Belgium
Department of Chronic Diseases Metabolism and Ageing
Department of Gastroenterology and Hepatology University Hospital of Leuven Leuven Flanders Belgium
Department of Pediatrics 2nd Faculty of Medicine Motol University Hospital Praha Czech Republic
Department of Pediatrics Pediatric Pulmonology University Hospital of Leuven Leuven Flanders Belgium
Department of Respiratory Diseases University Hospital of Leuven Leuven Flanders Belgium
Pneumology University Hospital of Leuven Leuven Flanders Belgium
VIB Bio Imaging Core VIB KU Leuven Center for Brain and Disease Research Leuven Belgium
Citace poskytuje Crossref.org
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