Margarida D Amaral
Overview
Explore the profile of Margarida D Amaral including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
152
Citations
3238
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Botelho H, Lopes-Pacheco M, Pinto M, Railean V, Pankonien I, Caleiro M, et al.
iScience
. 2025 Mar;
28(3):111942.
PMID: 40040803
Cystic fibrosis (CF) is a life-shortening disease affecting >160,000 individuals worldwide predominantly with respiratory symptoms. About 80% of individuals with CF have the p.Phe508del variant that causes the CF transmembrane...
2.
Rodrigues C, Railean V, Ramalho S, Farinha C, Pankonien I, Amaral M
J Cyst Fibros
. 2025 Feb;
PMID: 39919950
Background: Elucidating the molecular and cellular effects caused by CFTR variants is crucial to understand Cystic Fibrosis (CF) disease pathophysiology, but also to predict disease severity, to provide genetic counselling,...
3.
Amaral M, Pankonien I
J Cyst Fibros
. 2024 Sep;
24(1):10-15.
PMID: 39327193
Treating all people with Cystic Fibrosis (pwCF) to the level of benefit achieved by highly efficient CFTR modulator therapies (HEMT) remains a significant challenge. Theratyping and theranostics are two distinct...
4.
Schneider-Futschik E, Zhu Y, Li D, Habgood M, Nguyen B, Pankonien I, et al.
Prog Retin Eye Res
. 2024 Sep;
103:101299.
PMID: 39245300
Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that plays a crucial role in various human organs, including the respiratory and digestive systems. Dysfunctional CFTR is the key variant...
5.
Bierlaagh M, Ramalho A, Silva I, Vonk A, van den Bor R, van Mourik P, et al.
J Cyst Fibros
. 2024 May;
23(4):693-702.
PMID: 38749892
Background: The forskolin-induced swelling (FIS) assay measures CFTR function on patient-derived intestinal organoids (PDIOs) and may guide treatment selection for individuals with Cystic Fibrosis (CF). The aim of this study...
6.
Ferreira F, Amaral M, Bacalhau M, Lopes-Pacheco M
Eur J Pharmacol
. 2024 Feb;
967:176390.
PMID: 38336013
The deletion of a phenylalanine at position 508 (p.Phe508del) in the CFTR anion channel is the most prevalent variant in people with Cystic Fibrosis (CF). This variant impairs folding and...
7.
Pocsi M, Fejes Z, Bene Z, Nagy A, Balogh I, Amaral M, et al.
J Cyst Fibros
. 2023 Apr;
22(6):1085-1092.
PMID: 37087300
Background: We previously documented that elevated HE4 plasma concentration decreased in people with CF (pwCF) bearing the p.Gly551Asp-CFTR variant in response to CFTR modulator (CFTRm) ivacaftor (IVA), and this level...
8.
Railean V, Rodrigues C, Ramalho S, Silva I, Bartosch J, Farinha C, et al.
Front Mol Biosci
. 2023 Apr;
10:1155705.
PMID: 37006619
Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that...
9.
Santos L, Nascimento R, Duarte A, Railean V, Amaral M, Harrison P, et al.
Cell Biosci
. 2023 Feb;
13(1):26.
PMID: 36759923
Background: The phenotypic heterogeneity observed in Cystic Fibrosis (CF) patients suggests the involvement of other genes, besides CFTR. Here, we combined transcriptome and proteome analysis to understand the global gene...
10.
Clarke L, Amaral M
Pharmaceutics
. 2023 Jan;
15(1).
PMID: 36678889
The use of RNA-based approaches to treat monogenic diseases (i.e., hereditary disorders caused by mutations in single genes) has been developed on different fronts. One approach uses small antisense oligonucleotides...