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TITLE: Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis  Full Text
AUTHORS: Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier de Gracia; Anabela Ramalho ; Margarida D Amaral ; Sara Larriba; Teresa Casals;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: CFTR biomarkers: time for promotion to surrogate end-point?  Full Text
AUTHORS: De Boeck, K; Kent, L; Davies, J; Derichs, N; Amaral, M ; Rowe, SM; Middleton, P; de Jonge, H; Bronsveld, I; Wilschanski, M; Melotti, P; Danner Boucher, I; Boerner, S; Fajac, I; Southern, K; de Nooijer, RA; Bot, A; de Rijke, Y; de Wachter, E; Leal, T; Vermeulen, F; Hug, MJ; Rault, G; Nguyen Khoa, T; Barreto, C; Proesmans, M; Sermet Gaudelus, I; ...More
PUBLISHED: 2013, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 41, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: CFTR mutations altering CFTR fragmentation
AUTHORS: Kendra Tosoni; Michelle Stobbart; Diane M Cassidy; Andrea Venerando; Mario A Pagano; Simao Luz ; Margarida D Amaral ; Karl Kunzelmann ; Lorenzo A Pinna; Carlos M Farinha ; Anil Mehta;
PUBLISHED: 2013, SOURCE: BIOCHEMICAL JOURNAL, VOLUME: 449, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
5
TITLE: Control of TMEM16A by INO-4995 and other inositolphosphates. Activation of TMEM16A by INO-4995  Full Text
AUTHORS: Yuemin M Tian; Rainer Schreiber; Podchanart Wanitchakool; Patthara Kongsuphol; Marisa Sousa; Inna Uliyakina; Marta Palma; Diana Faria; Alexis E Traynor Kaplan; Jose I Fragata ; Margarida D Amaral ; Karl Kunzelmann ;
PUBLISHED: 2013, SOURCE: BRITISH JOURNAL OF PHARMACOLOGY, VOLUME: 168, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Full Text
AUTHORS: Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui H Yu; Neeraj Sharma; Anabela S Ramalho ; Margarida D Amaral ; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting; ...More
PUBLISHED: 2013, SOURCE: NATURE GENETICS, VOLUME: 45, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: High-Content siRNA Screen Reveals Global ENaC Regulators and Potential Cystic Fibrosis Therapy Targets
AUTHORS: Joana Almaca; Diana Faria; Marisa Sousa; Inna Uliyakina; Christian Conrad; Lalida Sirianant; Luka A Clarke ; Jose Paulo Martins; Miguel Santos; Jean Karim Heriche; Wolfgang Huber; Rainer Schreiber; Rainer Pepperkok; Karl Kunzelmann; Margarida D Amaral ;
PUBLISHED: 2013, SOURCE: CELL, VOLUME: 154, ISSUE: 6
INDEXED IN: Scopus WOS
IN MY: ORCID
10
TITLE: Post-translational modifications of CFTR: insight into protein trafficking and cystic fibrosis disease  Full Text
AUTHORS: Margarida D Amaral ; Carlos M Farinha ;
PUBLISHED: 2013, SOURCE: FEBS JOURNAL, VOLUME: 280, ISSUE: 18
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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