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Items: 6

1.

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.

Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD.

Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10.

PMID:
30488522
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.

J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18.

PMID:
30030066
3.

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.

Felício V, Ramalho AS, Igreja S, Amaral MD.

Clin Genet. 2017 Mar;91(3):476-481. doi: 10.1111/cge.12802. Epub 2016 Jun 1.

PMID:
27174726
4.

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

Ramalho AS, Clarke LA, Sousa M, Felicio V, Barreto C, Lopes C, Amaral MD.

J Cyst Fibros. 2016 Jan;15(1):21-33. doi: 10.1016/j.jcf.2015.02.002. Epub 2015 Feb 27.

5.

BAG-1 stabilizes mutant F508del-CFTR in a ubiquitin-like-domain-dependent manner.

Mendes F, Farinha CM, Felício V, Alves PC, Vieira I, Amaral MD.

Cell Physiol Biochem. 2012;30(5):1120-33. doi: 10.1159/000343303. Epub 2012 Oct 5.

6.

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Sousa M, Servidoni MF, Vinagre AM, Ramalho AS, Bonadia LC, Felício V, Ribeiro MA, Uliyakina I, Marson FA, Kmit A, Cardoso SR, Ribeiro JD, Bertuzzo CS, Sousa L, Kunzelmann K, Ribeiro AF, Amaral MD.

PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17.

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