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Page 1
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC. Benkirane M, et al. Among authors: varilh j. Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. Brain. 2022. PMID: 35883251
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.
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Bergougnoux A, Rivals I, Liquori A, Raynal C, Varilh J, Magalhães M, Perez MJ, Bigi N, Des Georges M, Chiron R, Squalli-Houssaini AS, Claustres M, De Sario A. Bergougnoux A, et al. Among authors: varilh j. Epigenetics. 2014 Jul;9(7):1007-17. doi: 10.4161/epi.28967. Epub 2014 Apr 29. Epigenetics. 2014. PMID: 24782114 Free PMC article.
DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis.
Magalhães M, Rivals I, Claustres M, Varilh J, Thomasset M, Bergougnoux A, Mely L, Leroy S, Corvol H, Guillot L, Murris M, Beyne E, Caimmi D, Vachier I, Chiron R, De Sario A. Magalhães M, et al. Among authors: varilh j. Clin Epigenetics. 2017 Feb 14;9:19. doi: 10.1186/s13148-016-0300-8. eCollection 2017. Clin Epigenetics. 2017. PMID: 28289476 Free PMC article.
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