Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Sofia S. Ramalho"'
Autor:
Violeta Railean, Cláudia S. Rodrigues, Sofia S. Ramalho, Iris A. L. Silva, Jan Bartosch, Carlos M. Farinha, Ines Pankonien, Margarida D. Amaral
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
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 leads to CFTR dysfunction. Since some rare variants may respond to cur
Externí odkaz:
https://doaj.org/article/c60cd204f58f4cc1ab638f25e1b04263
Autor:
Miquéias Lopes-Pacheco, Mafalda Bacalhau, Sofia S. Ramalho, Iris A. L. Silva, Filipa C. Ferreira, Graeme W. Carlile, David Y. Thomas, Carlos M. Farinha, John W. Hanrahan, Margarida D. Amaral
Publikováno v:
Cells, Vol 11, Iss 1, p 136 (2022)
Although some therapeutic progress has been achieved in developing small molecules that correct F508del-CFTR defects, the mechanism of action (MoA) of these compounds remain poorly elucidated. Here, we investigated the effects and MoA of MCG1516A, a
Externí odkaz:
https://doaj.org/article/8d80653a02ca4e2484d251cc2ae88f3a
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,
Publikováno v:
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 3211
Volume 24
Issue 4
Pages: 3211
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more than 2100 variants have been identified in the gene, with a large number being
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 24
International Journal of Molecular Sciences, Vol 23, Iss 24, p 24 (2022)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 24, p 24 (2022)
International Journal of Molecular Sciences
Most of the ~2100 CFTR variants so far reported are very rare and still uncharacterized regarding their cystic fibrosis (CF) disease liability. Since some may respond to currently approved modulators, characterizing their defect and response to these
Autor:
Dopler A; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Alkan F; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Malka Y; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., van der Kammen R; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Hoefakker K; Division of Molecular Oncology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Taranto D; Division of Tumor Biology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Kocabay N; Division of Tumor Biology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Mimpen I; Division of Molecular Oncology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Ramirez C; Division of Tumor Biology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Malzer E; Division of Molecular Carcinogenesis, Netherlands Cancer Institute, Amsterdam, the Netherlands., Isaeva OI; Division of Tumor Biology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Kerkhoff M; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Gangaev A; Division of Molecular Oncology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Silva J; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Ramalho S; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Hoekman L; Proteomics Facility, The Netherlands Cancer Institute, Amsterdam, the Netherlands., Altelaar M; Proteomics Facility, The Netherlands Cancer Institute, Amsterdam, the Netherlands., Beijersbergen R; Division of Molecular Carcinogenesis, Netherlands Cancer Institute, Amsterdam, the Netherlands., Akkari L; Division of Tumor Biology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Yewdell JW; Cellular Biology Section, Laboratory of Viral Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Kvistborg P; Division of Molecular Oncology & Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands., Faller WJ; Division of Oncogenomics, Netherlands Cancer Institute, Amsterdam, the Netherlands. Electronic address: w.faller@nki.nl.
Publikováno v:
Cell [Cell] 2024 Oct 14. Date of Electronic Publication: 2024 Oct 14.
Autor:
Ramalho S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, Netherlands., Dopler A; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, Netherlands., Faller WJ; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, Netherlands.
Publikováno v:
NAR cancer [NAR Cancer] 2024 Jul 09; Vol. 6 (3), pp. zcae029. Date of Electronic Publication: 2024 Jul 09 (Print Publication: 2024).
Autor:
Alkan F; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Wilkins OG; The Francis Crick Institute, London, UK.; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK., Hernández-Pérez S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Ramalho S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Silva J; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Ule J; The Francis Crick Institute, London, UK.; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.; UK Dementia Research Institute Centre, King's College London, London, UK., Faller WJ; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2022 Sep 09; Vol. 50 (16), pp. e95.
Autor:
Silva J; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Alkan F; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Ramalho S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Snieckute G; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Prekovic S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Garcia AK; Institute of Byodynamics and Biocomplexity, Department of Biology, Faculty of Science, Utrecht University, Utrecht, The Netherlands., Hernández-Pérez S; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., van der Kammen R; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Barnum D; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Hoekman L; Proteomics Facility, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Altelaar M; Proteomics Facility, The Netherlands Cancer Institute, Amsterdam, The Netherlands.; Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research, Utrecht Institute for Pharmaceutical Sciences, Utrecht University and Netherlands Proteomic Centre, Utrecht, The Netherlands., Zwart W; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Suijkerbuijk SJE; Institute of Byodynamics and Biocomplexity, Department of Biology, Faculty of Science, Utrecht University, Utrecht, The Netherlands., Bekker-Jensen S; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Faller WJ; Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands. w.faller@nki.nl.
Publikováno v:
Nature communications [Nat Commun] 2022 Aug 02; Vol. 13 (1), pp. 4492. Date of Electronic Publication: 2022 Aug 02.
Autor:
Conceição EM; Psychotherapy and Psychopathology Research Unit - Psychology Research Centre, School of Psychology, University of Minho, Braga, Portugal., Moreira CS; Department of Mathematics and Center of Mathematics (FCUP-CMUP), University of Porto, Porto, Portugal., de Lourdes M; Psychotherapy and Psychopathology Research Unit - Psychology Research Centre, School of Psychology, University of Minho, Braga, Portugal., Ramalho S; Psychotherapy and Psychopathology Research Unit - Psychology Research Centre, School of Psychology, University of Minho, Braga, Portugal., Vaz AR; Psychotherapy and Psychopathology Research Unit - Psychology Research Centre, School of Psychology, University of Minho, Braga, Portugal.
Publikováno v:
Frontiers in psychology [Front Psychol] 2022 Feb 11; Vol. 12, pp. 787558. Date of Electronic Publication: 2022 Feb 11 (Print Publication: 2021).