Pierre-Régis Burgel

Aug 7, 2024 | nature.com | Marcus A. Mall |Pierre-Régis Burgel

AbstractCystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.

Oct 25, 2023 | frontiersin.org | Medizinische Hochschule Brandenburg |van Dullemen |Pierre-Régis Burgel |Neil A. Bradbury

1 IntroductionFor long, abdominal involvement in cystic fibrosis (CF), the most common lethal inherited disease of the Caucasian population, received little attention.