Ramalho SS - Search Results

1

Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

Ramalho SS, Silva IAL, Amaral MD, Farinha CM. Ramalho SS, et al. Int J Mol Sci. 2021 Dec 21;23(1):24. doi: 10.3390/ijms23010024. Int J Mol Sci. 2021. PMID: 35008443 Free PMC article.

2

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. 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.

3

Mechanical Properties of Human Bronchial Epithelial Cells Expressing Wt- and Mutant CFTR.

Carapeto AP, Vitorino MV, Santos JD, Ramalho SS, Robalo T, Rodrigues MS, Farinha CM. Carapeto AP, et al. Among authors: ramalho ss. Int J Mol Sci. 2020 Apr 21;21(8):2916. doi: 10.3390/ijms21082916. Int J Mol Sci. 2020. PMID: 32326361 Free PMC article.

4

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.

5

Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis.

Clarke LA, Luz VCC, Targowski S, Ramalho SS, Farinha CM, Amaral MD. Clarke LA, et al. Among authors: ramalho ss. Genes (Basel). 2021 Nov 18;12(11):1810. doi: 10.3390/genes12111810. Genes (Basel). 2021. PMID: 34828417 Free PMC article.

6

Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.

Pinto MC, Quaresma MC, Silva IAL, Railean V, Ramalho SS, Amaral MD. Pinto MC, et al. Among authors: ramalho ss. Int J Mol Sci. 2021 Dec 2;22(23):13064. doi: 10.3390/ijms222313064. Int J Mol Sci. 2021. PMID: 34884866 Free PMC article.

7

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Lopes-Pacheco M, Bacalhau M, Ramalho SS, Silva IAL, Ferreira FC, Carlile GW, Thomas DY, Farinha CM, Hanrahan JW, Amaral MD. Lopes-Pacheco M, et al. Among authors: ramalho ss. Cells. 2022 Jan 1;11(1):136. doi: 10.3390/cells11010136. Cells. 2022. PMID: 35011698 Free PMC article.

8

Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.

Cuyx S, Ramalho SS, Callebaut I, Cuppens H, Kmit A, Arnauts K, Ferrante M, Verfaillie C, Ensinck M, Carlon MS, Boon M, Proesmans M, Dupont L, De Boeck K, Farinha CM, Vermeulen F, Ramalho AS. Cuyx S, et al. Among authors: ramalho ss. J Cyst Fibros. 2022 Jul;21(4):644-651. doi: 10.1016/j.jcf.2022.05.013. Epub 2022 Jun 9. J Cyst Fibros. 2022. PMID: 35690578

9

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S, Batista MSP, Ramalho SS, Victor BL, Farinha CM. Zacarias S, et al. Among authors: ramalho ss. Int J Mol Sci. 2023 Feb 6;24(4):3211. doi: 10.3390/ijms24043211. Int J Mol Sci. 2023. PMID: 36834620 Free PMC article.

10

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.

Railean V, Rodrigues CS, Ramalho SS, Silva IAL, Bartosch J, Farinha CM, Pankonien I, Amaral MD. Railean V, et al. Among authors: ramalho ss. Front Mol Biosci. 2023 Mar 17;10:1155705. doi: 10.3389/fmolb.2023.1155705. eCollection 2023. Front Mol Biosci. 2023. PMID: 37006619 Free PMC article.

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