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CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPD.
Knabe L, Varilh J, Bergougnoux A, Gamez AS, Bonini J, Pommier A, Petit A, Molinari N, Vachier I, Taulan-Cadars M, Bourdin A. Knabe L, et al. Among authors: varilh j. Am J Physiol Lung Cell Mol Physiol. 2016 Oct 1;311(4):L696-L703. doi: 10.1152/ajplung.00280.2016. Epub 2016 Aug 5. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27496897 Free article.
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M. Bergougnoux A, et al. Among authors: varilh j. J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30. J Cyst Fibros. 2019. PMID: 30389601 Free article.
Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.
Orenti A, Pranke I, Faucon C, Varilh J, Hatton A, Golec A, Dehillotte C, Durieu I, Reix P, Burgel PR, Grenet D, Tasset C, Gachelin E, Perisson C, Lepissier A, Dreano E, Tondelier D, Chevalier B, Weiss L, Kiefer S, Laurans M, Chiron R, Lemonnier L, Marguet C, Jung A, Edelman A, Kerem BS, Girodon E, Taulan-Cadars M, Hinzpeter A, Kerem E, Naehrlich L, Sermet-Gaudelus I; ECFSPR Steering group. Orenti A, et al. Among authors: varilh j. J Cyst Fibros. 2023 Nov;22(6):1070-1079. doi: 10.1016/j.jcf.2023.06.005. Epub 2023 Jul 6. J Cyst Fibros. 2023. PMID: 37422433
The U UGA C sequence provides a favorable context to ELX-02 induced CFTR readthrough.
Pranke IM, Varilh J, Hatton A, Faucon C, Girodon E, Dreano E, Chevalier B, Karri S, Reix P, Durieu I, Bidou L, Namy O, Taulan M, Hinzpeter A, Sermet-Gaudelus I. Pranke IM, et al. Among authors: varilh j. J Cyst Fibros. 2023 May;22(3):560-563. doi: 10.1016/j.jcf.2022.10.010. Epub 2022 Nov 16. J Cyst Fibros. 2023. PMID: 36400713 No abstract available.
15 results