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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: taulan cadars m. 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.
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.
Martin N, Bergougnoux A, Baatallah N, Chevalier B, Varilh J, Baux D, Costes B, Fanen P, Raynal C, Sermet-Gaudelus I, Girodon E, Taulan-Cadars M, Hinzpeter A. Martin N, et al. Among authors: taulan cadars m. J Cyst Fibros. 2021 May;20(3):464-472. doi: 10.1016/j.jcf.2020.12.003. Epub 2020 Dec 17. J Cyst Fibros. 2021. PMID: 33341408 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: taulan cadars m. 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
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K, Taulan-Cadars M. Deletang K, et al. Among authors: taulan cadars m. Gene Ther. 2022 Aug;29(7-8):399-406. doi: 10.1038/s41434-022-00347-0. Epub 2022 Jun 2. Gene Ther. 2022. PMID: 35650428 Free PMC article. Review.
16 results