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Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva, Iris A L; Dousová, Tereza; Ramalho, Sofia; Centeio, Raquel; Clarke, Luka A; Railean, Violeta; Botelho, Hugo M; Holubová, Andrea; Valásková, Iveta; Yeh, Jiunn-Tyng; Hwang, Tzyh-Chang; Farinha, Carlos M; Kunzelmann, Karl; Amaral, Margarida D.
Afiliação
  • Silva IAL; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Dousová T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84,Prague 5, 150 06 Prague, Czech Republic.
  • Ramalho S; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Centeio R; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Clarke LA; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Railean V; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Botelho HM; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Holubová A; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84,Prague 5, 150 06 Prague, Czech Republic.
  • Valásková I; Department of Medical Genetics, Masaryk University Brno and University Hospital Brno, Jihlavská 20, Brno 625 00, Czech Republic.
  • Yeh JT; Dalton Cardiovascular Research Center, University of Missouri, Columbia, MO, United States of America.
  • Hwang TC; Dalton Cardiovascular Research Center, University of Missouri, Columbia, MO, United States of America.
  • Farinha CM; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Kunzelmann K; Institut für Physiologie, Universität Regensburg, Universitätsstraße 31, D-93053 Regensburg, Germany.
  • Amaral MD; University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal. Electronic address: mdamaral@fc.ul.pt.
Biochim Biophys Acta Mol Basis Dis ; 1866(11): 165905, 2020 11 01.
Article em En | MEDLINE | ID: mdl-32730979

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose Cística / Medicina de Precisão / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Portugal

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose Cística / Medicina de Precisão / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Portugal