Assays of CFTR Function In Vitro, Ex Vivo and In Vivo

por Ramalho, Anabela S., Boon, Mieke, Proesmans, Marijke, Vermeulen, François, Carlon, Marianne S., De Boeck, Kris
Publicado 2022

Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

por Maule, Giulia, Casini, Antonio, Montagna, Claudia, Ramalho, Anabela S., De Boeck, Kris, Debyser, Zeger, Carlon, Marianne S., Petris, Gianluca, Cereseto, Anna
Publicado 2019

Butyrate Does Not Protect Against Inflammation-induced Loss of Epithelial Barrier Function and Cytokine Production in Primary Cell Monolayers From Patients With Ulcerative Colitis

por Vancamelbeke, Maaike, Laeremans, Thessa, Vanhove, Wiebe, Arnauts, Kaline, Ramalho, Anabela Santo, Farré, Ricard, Cleynen, Isabelle, Ferrante, Marc, Vermeire, Séverine
Publicado 2019

Author Correction: Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

por Maule, Giulia, Casini, Antonio, Montagna, Claudia, Ramalho, Anabela S., De Boeck, Kris, Debyser, Zeger, Carlon, Marianne S., Petris, Gianluca, Cereseto, Anna
Publicado 2020

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

por Bampi, Giovana B., Ramalho, Anabela S., Santos, Leonardo A., Wagner, Johannes, Dupont, Lieven, Cuppens, Harry, De Boeck, Kris, Ignatova, Zoya
Publicado 2020

Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

por Ensinck, Marjolein, De Keersmaecker, Liesbeth, Heylen, Lise, Ramalho, Anabela S., Gijsbers, Rik, Farré, Ricard, De Boeck, Kris, Christ, Frauke, Debyser, Zeger, Carlon, Marianne S.
Publicado 2020

Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids

por Ensinck, Marjolein M., De Keersmaecker, Liesbeth, Ramalho, Anabela S., Cuyx, Senne, Van Biervliet, Stephanie, Dupont, Lieven, Christ, Frauke, Debyser, Zeger, Vermeulen, François, Carlon, Marianne S.
Publicado 2022

Measurements of CFTR-Mediated Cl(−) Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

por Sousa, Marisa, Servidoni, Maria F., Vinagre, Adriana M., Ramalho, Anabela S., Bonadia, Luciana C., Felício, Verónica, Ribeiro, Maria A., Uliyakina, Inna, Marson, Fernando A., Kmit, Arthur, Cardoso, Silvia R., Ribeiro, José D., Bertuzzo, Carmen S., Sousa, Lisete, Kunzelmann, Karl, Ribeiro, Antônio F., Amaral, Margarida D.
Publicado 2012

Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

por Vonk, Annelotte M., van Mourik, Peter, Ramalho, Anabela S., Silva, Iris A.L., Statia, Marvin, Kruisselbrink, Evelien, Suen, Sylvia W.F., Dekkers, Johanna F., Vleggaar, Frank P., Houwen, Roderick H.J., Mullenders, Jasper, Boj, Sylvia F., Vries, Robert, Amaral, Margarida D., de Boeck, Kris, van der Ent, Cornelis K., Beekman, Jeffrey M.
Publicado 2020

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

por Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Publicado 2013