Article
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 May 2024
Angyal Dora, Kleinfelder Karina, Ciciriello Fabiana, Groeneweg Tessa A, De Marchi Giulia, de Pretis Nicolò, Bernardoni Laura, Rodella Luca, Tomba Francesco, De Angelis Paola, Surace Cecilia, Pintani Emily, Alghisi Federico, de Jonge Hugo R, Melotti Paola, Sorio Claudio, Lucidi Vincenzina, Bijvelds Marcel J C, Frulloni Luca
Abstract excerpt
BACKGROUND: Many affected by pancreatitis harbor rare variants of the cystic fibrosis (CF) gene, CFTR, which encodes an epithelial chloride/bicarbonate channel. We investigated CFTR function and the effect of CFTR modulator drugs in pancreatitis patients carrying CFTR variants. METHODS: Next-generation sequencing was performed to identify CFTR variants. Sweat tests and nasal potential difference (NPD) assays were...
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