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R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. Among authors: silva ial. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.
Lérias JR, Pinto MC, Botelho HM, Awatade NT, Quaresma MC, Silva IAL, Wanitchakool P, Schreiber R, Pepperkok R, Kunzelmann K, Amaral MD. Lérias JR, et al. Among authors: silva ial. Biochim Biophys Acta Mol Cell Res. 2018 Feb;1865(2):421-431. doi: 10.1016/j.bbamcr.2017.11.009. Epub 2017 Nov 15. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29154949 Free article.
TMEM16A chloride channel does not drive mucus production.
Simões FB, Quaresma MC, Clarke LA, Silva IA, Pankonien I, Railean V, Kmit A, Amaral MD. Simões FB, et al. Life Sci Alliance. 2019 Nov 15;2(6):e201900462. doi: 10.26508/lsa.201900462. Print 2019 Dec. Life Sci Alliance. 2019. PMID: 31732694 Free PMC article.
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva IAL, Doušová T, Ramalho S, Centeio R, Clarke LA, Railean V, Botelho HM, Holubová A, Valášková I, Yeh JT, Hwang TC, Farinha CM, Kunzelmann K, Amaral MD. Silva IAL, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165905. doi: 10.1016/j.bbadis.2020.165905. Epub 2020 Jul 28. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32730979 Free PMC article.
Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.
Quaresma MC, Pankonien I, Clarke LA, Sousa LS, Silva IAL, Railean V, Doušová T, Fuxe J, Amaral MD. Quaresma MC, et al. Among authors: silva ial. Cell Death Dis. 2020 Oct 26;11(10):920. doi: 10.1038/s41419-020-03119-z. Cell Death Dis. 2020. PMID: 33106471 Free PMC article.
Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids.
Vonk AM, van Mourik P, Ramalho AS, Silva IAL, Statia M, Kruisselbrink E, Suen SWF, Dekkers JF, Vleggaar FP, Houwen RHJ, Mullenders J, Boj SF, Vries R, Amaral MD, de Boeck K, van der Ent CK, Beekman JM. Vonk AM, et al. Among authors: silva ial. STAR Protoc. 2020 Jun 3;1(1):100019. doi: 10.1016/j.xpro.2020.100019. eCollection 2020 Jun 19. STAR Protoc. 2020. PMID: 33111074 Free PMC article.
31 results