Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Anabela S Ramalho"'
Autor:
Marisa Sousa, Maria F Servidoni, Adriana M Vinagre, Anabela S Ramalho, Luciana C Bonadia, Verónica Felício, Maria A Ribeiro, Inna Uliyakina, Fernando A Marson, Arthur Kmit, Silvia R Cardoso, José D Ribeiro, Carmen S Bertuzzo, Lisete Sousa, Karl Kunzelmann, Antônio F Ribeiro, Margarida D Amaral
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47708 (2012)
BackgroundCystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respira
Externí odkaz:
https://doaj.org/article/2860c930e59242669d87fa4093d5ef95
Autor:
Marjolein M. Ensinck, Liesbeth De Keersmaecker, Anabela S. Ramalho, Senne Cuyx, Stephanie Van Biervliet, Lieven Dupont, Frauke Christ, Zeger Debyser, François Vermeulen, Marianne S. Carlon
Publikováno v:
ERJ Open Research, Vol 8, Iss 2 (2022)
Introduction Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Several types of CFTR modulators (correctors/potentiators) have been developed to overcome pr
Externí odkaz:
https://doaj.org/article/c24ba5ea7fe6417bbc0f22cc09e3e528
Autor:
Annelotte M. Vonk, Peter van Mourik, Anabela S. Ramalho, Iris A.L. Silva, Marvin Statia, Evelien Kruisselbrink, Sylvia W.F. Suen, Johanna F. Dekkers, Frank P. Vleggaar, Roderick H.J. Houwen, Jasper Mullenders, Sylvia F. Boj, Robert Vries, Margarida D. Amaral, Kris de Boeck, Cornelis K. van der Ent, Jeffrey M. Beekman
Publikováno v:
STAR Protocols, Vol 1, Iss 1, Pp 100019- (2020)
Summary: This protocol describes the isolation, handling, culture of, and experiments with human colon stem cell organoids in the context of cystic fibrosis (CF). In human colon organoids, the function of cystic fibrosis transmembrane conductance reg
Externí odkaz:
https://doaj.org/article/fefd7bcad3ec46998e45178ebd7ffc13
Autor:
Senne Cuyx, Sofia S. Ramalho, Isabelle Callebaut, Harry Cuppens, Arthur Kmit, Kaline Arnauts, Marc Ferrante, Catherine Verfaillie, Marjolein Ensinck, Marianne S. Carlon, Mieke Boon, Marijke Proesmans, Lieven Dupont, Kris De Boeck, Carlos M. Farinha, François Vermeulen, Anabela S. Ramalho
Publikováno v:
Journal of Cystic Fibrosis. 21:644-651
In cystic fibrosis (CF), genotype-phenotype correlation is complicated by the large number of CFTR variants, the influence of modifier genes, environmental effects, and the existence of complex alleles. We document the importance of complex alleles,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bd19c9d74f42cb6115d132c6f46aca
https://doi.org/10.1016/j.jcf.2022.05.013
https://doi.org/10.1016/j.jcf.2022.05.013
Autor:
Simone Amistadi, Giulia Maule, Matteo Ciciani, Marjolein M. Ensinck, Liesbeth De Keersmaecker, Anabela S. Ramalho, Daniela Guidone, Martina Buccirossi, Luis J.V. Galietta, Marianne S. Carlon, Anna Cereseto
Publikováno v:
Molecular Therapy.
Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The 2789+5G>A CFTR mutation is a quite frequent defect causing an aberrant splicing and a non-functional CFTR protein. Here we us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9d4ec4a3565a8516ca7963facd1b60
https://doi.org/10.1016/j.ymthe.2023.03.004
https://doi.org/10.1016/j.ymthe.2023.03.004
Autor:
Giovana B. Bampi, Anabela S. Ramalho, Leonardo A. Santos, Johannes Wagner, Lieven Dupont, Harry Cuppens, Kris De Boeck, Zoya Ignatova
Publikováno v:
Life, Vol 11, Iss 1, p 14 (2020)
Synonymous single nucleotide polymorphisms (sSNPs), which change a nucleotide, but not the encoded amino acid, are perceived as neutral to protein function and thus, classified as benign. We report a patient who was diagnosed with cystic fibrosis (CF
Externí odkaz:
https://doaj.org/article/4cb186d969174d52b09e6edb87119e08
Autor:
Marjolein Ensinck, Liesbeth De Keersmaecker, Lise Heylen, Anabela S. Ramalho, Rik Gijsbers, Ricard Farré, Kris De Boeck, Frauke Christ, Zeger Debyser, Marianne S. Carlon
Publikováno v:
Cells, Vol 9, Iss 3, p 754 (2020)
Background. The most common CFTR mutation, F508del, presents with multiple cellular defects. However, the possible multiple defects caused by many rarer CFTR mutations are not well studied. We investigated four rare CFTR mutations E60K, G85E, E92K an
Externí odkaz:
https://doaj.org/article/cb4801ff05b84e639be52216a718bfe5
Autor:
Steffen Fieuws, Sebastian Munck, Anabela S. Ramalho, Marijke Proesmans, Kris De Boeck, François Vermeulen, Marc Ferrante, Mieke Boon, E. Furstova, S. Cuyx, Nikky Corthout, Catherine M. Verfaillie, Lieven Dupont, Kaline Arnauts
Publikováno v:
Thorax. 76:1146-1149
Diagnosing cystic fibrosis (CF) when sweat chloride is not in the CF range and less than 2 disease-causing CFTR mutations are found requires physiological CFTR assays, which are not always feasible or available. We developed a new physiological CFTR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe88606b5eb41367a6c83c1f0069f2b
https://doi.org/10.1136/thoraxjnl-2020-216368
https://doi.org/10.1136/thoraxjnl-2020-216368
Autor:
François Vermeulen, Kris De Boeck, Lieven Dupont, Marijke Proesmans, Mieke Boon, Sebastian Munck, Catherine Verfaillie, Marc Ferrante, Kaline Arnauts, Eva Fürstová, Steffen Fieuws, Nikky Corthout, Anabela S. Ramalho, Senne Cuyx
Publikováno v:
Journal of Visualized Experiments.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399acdc0803ccaeadb1fd34eb15f3255
https://doi.org/10.3791/63818-v
https://doi.org/10.3791/63818-v
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel that perturb anion transport across the epithelia of the airways and other organs. To treat cystic fibrosis, strategies that target mutan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26c27feed428f2c53074c399f0babe6
https://hdl.handle.net/11588/905915
https://hdl.handle.net/11588/905915
