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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: kmit a. 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
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. Sousa M, et al. Among authors: kmit a. PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082198 Free PMC article.
Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients.
Kmit A, Marson FAL, Pereira SV, Vinagre AM, Leite GS, Servidoni MF, Ribeiro JD, Ribeiro AF, Bertuzzo CS, Amaral MD. Kmit A, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1323-1331. doi: 10.1016/j.bbadis.2019.01.029. Epub 2019 Feb 1. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30716472 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. Among authors: kmit a. 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.
Expression and function of epithelial anoctamins.
Kunzelmann K, Schreiber R, Kmit A, Jantarajit W, Martins JR, Faria D, Kongsuphol P, Ousingsawat J, Tian Y. Kunzelmann K, et al. Among authors: kmit a. Exp Physiol. 2012 Feb;97(2):184-92. doi: 10.1113/expphysiol.2011.058206. Epub 2011 Sep 9. Exp Physiol. 2012. PMID: 21908539 Free article.
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