Publications by authors named "Anabela Ramalho"

24Publications

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

Life (Basel) 2020 Dec 27;11(1). Epub 2020 Dec 27.

Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.

View Article and Find Full Text PDF
December 2020

Ex Vivo Mimicking of Inflammation in Organoids Derived From Patients With Ulcerative Colitis.

Gastroenterology 2020 Oct 28;159(4):1564-1567. Epub 2020 May 28.

Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; Department of Gastroenterology and Hepatology, University Hospitals Leuven, KU Leuven, Leuven, Belgium. Electronic address:

View Article and Find Full Text PDF
October 2020

Phenotyping of Rare Mutations Reveals Distinct Trafficking and Functional Defects.

Cells 2020 03 19;9(3). Epub 2020 Mar 19.

Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, 3000 Leuven, Flanders, Belgium.

View Article and Find Full Text PDF
March 2020

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

Nat Commun 2019 08 7;10(1):3556. Epub 2019 Aug 7.

Centre for Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Trento, Italy.

View Article and Find Full Text PDF
August 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.

J Crohns Colitis 2019 Sep;13(10):1351-1361

Department of Chronic Diseases, Metabolism & Ageing [CHROMETA], Translational Research Center for Gastrointestinal Disorders [TARGID], KU Leuven, Leuven, Belgium.

View Article and Find Full Text PDF
September 2019

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

J Cyst Fibros 2016 Jan 27;15(1):21-33. Epub 2015 Feb 27.

University of Lisboa, Faculty of Sciences, BioISI - Biosystems and Integrative Sciences Institute, Lisboa, Portugal. Electronic address:

View Article and Find Full Text PDF
January 2016

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

Nat Genet 2013 Oct 25;45(10):1160-7. Epub 2013 Aug 25.

1] Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. [2] Perdana University Graduate School of Medicine, Serdang, Malaysia. [3] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

View Article and Find Full Text PDF
October 2013

Quantification of CFTR transcripts.

Methods Mol Biol 2011 ;741:115-35

Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal.

View Article and Find Full Text PDF
September 2011

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cell Physiol Biochem 2009 4;24(5-6):335-46. Epub 2009 Nov 4.

University of Lisboa, Centre for Biodiversity, Functional and Integrative Genomics, Lisboa, Portugal.

View Article and Find Full Text PDF
February 2010