Publications by authors named "Margarida D Amaral"

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Cystic fibrosis as a paradigmatic disease in bringing science to the bedside.
Margarida D Amaral, Ines Pankonien

FEBS Lett· November 2025

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N1303K (p.Asn1303Lys) variant: Expanding frontiers in the treatment of cystic fibrosis.
Joana Pacheco, Leonor Almeida, Rita Boaventura, Ana Luisa Pereira, Claudia S Rodrigues, Margarida D Amaral

Respir Med· September 2025

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CFTR ion transport deficiency primes the epithelium for partial epithelial-mesenchymal transition in cystic fibrosis.
Cláudia S Rodrigues, Matilde Canto, Raquel Torres, Violeta Railean, Sofia S Ramalho, Margarida D Amaral

Front Pharmacol· September 2025

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Comparison of the Effect of CFTR Modulators // and / via Serum Human Epididymis Protein 4 Concentration in Homozygous Cystic Fibrosis Patients.
Marianna Pócsi, Libor Fila, Csaba Péterfia, Adrien Halász, Tibor G Szanto, Margarida D Amaral

J Clin Med· September 2025

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Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.
Violeta Railean, Cláudia S Rodrigues, Ines Pankonien, Sofia S Ramalho, Iris A L Silva, Margarida D Amaral

Mol Diagn Ther· September 2025

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CyFidb: A Molecular Atlas for Cystic Fibrosis.
Catarina Pereira, Margarida D Amaral, Andre O Falcao

J Cyst Fibros· July 2025

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Personalized therapy with CFTR modulators: Response of p.Ile148Asn variant.
Cláudia S Rodrigues, Violeta Railean, Sofia S Ramalho, Carlos M Farinha, Ines Pankonien, Margarida D Amaral

J Cyst Fibros· May 2025

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Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators.
Hugo M Botelho, Miquéias Lopes-Pacheco, Madalena C Pinto, Violeta Railean, Ines Pankonien, Margarida D Amaral

iScience· March 2025

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Theranostics vs theratyping or theranostics plus theratyping?
Margarida D Amaral, Ines Pankonien

J Cyst Fibros· January 2025

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The role of CFTR in the eye, and the effect of early highly effective modulator treatment for cystic fibrosis on eye health.
Elena K Schneider-Futschik, Yimin Zhu, Danni Li, Mark D Habgood, Bao N Nguyen, Margarida D Amaral

Prog Retin Eye Res· November 2024

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Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis.
Marlou C Bierlaagh, Anabela S Ramalho, Iris A L Silva, Annelotte M Vonk, Rutger M van den Bor, Margarida D Amaral

J Cyst Fibros· July 2024

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PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR.
Filipa C Ferreira, Margarida D Amaral, Mafalda Bacalhau, Miquéias Lopes-Pacheco

Eur J Pharmacol· March 2024

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Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination.
Marianna Pócsi, Zsolt Fejes, Zsolt Bene, Attila Nagy, István Balogh, Margarida D Amaral

J Cyst Fibros· November 2023

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Using the genome to correct the ion transport defect in cystic fibrosis.
Margarida D Amaral

J Physiol· May 2023

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Development of novel therapeutics for all individuals with CF (the future goes on).
Margarida D Amaral, Patrick T Harrison

J Cyst Fibros· March 2023

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Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.
Violeta Railean, Cláudia S Rodrigues, Sofia S Ramalho, Iris A L Silva, Jan Bartosch, Margarida D Amaral

Front Mol Biosci· March 2023

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Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells.
Lúcia Santos, Rui Nascimento, Aires Duarte, Violeta Railean, Margarida D Amaral

Cell Biosci· February 2023

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Identification of novel F508del-CFTR traffic correctors among triazole derivatives.
Mafalda Bacalhau, Filipa C Ferreira, Arthur Kmit, Felipe R Souza, Verônica D da Silva, Margarida D Amaral

Eur J Pharmacol· January 2023

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Additive Potentiation of R334W-CFTR Function by Novel Small Molecules.
Mafalda Bacalhau, Filipa C Ferreira, Iris A L Silva, Camilla D Buarque, Margarida D Amaral

J Pers Med· January 2023

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What Can RNA-Based Therapy Do for Monogenic Diseases?
Luka A Clarke, Margarida D Amaral

Pharmaceutics· January 2023

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The SLC26A9 inhibitor S9-A13 provides no evidence for a role of SLC26A9 in airway chloride secretion but suggests a contribution to regulation of ASL pH and gastric proton secretion.
Sungwoo Jo, Raquel Centeio, Jinhong Park, Jiraporn Ousingsawat, Dong-Kyu Jeon, Margarida D Amaral

FASEB J· November 2022

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Drug Repurposing for Cystic Fibrosis: Identification of Drugs That Induce CFTR-Independent Fluid Secretion in Nasal Organoids.
Lisa W Rodenburg, Livia Delpiano, Violeta Railean, Raquel Centeio, Madalena C Pinto, Margarida D Amaral

Int J Mol Sci· October 2022

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Exploring YAP1-centered networks linking dysfunctional CFTR to epithelial-mesenchymal transition.
Margarida C Quaresma, Hugo M Botelho, Ines Pankonien, Cláudia S Rodrigues, Madalena C Pinto, Margarida D Amaral

Life Sci Alliance· September 2022

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Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids.
João F Ferreira, Iris A L Silva, Hugo M Botelho, Margarida D Amaral, Carlos M Farinha

Cells· July 2022

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CFTR, Cell Junctions and the Cytoskeleton.
Ines Pankonien, Margarida C Quaresma, Cláudia S Rodrigues, Margarida D Amaral

Int J Mol Sci· February 2022

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