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TITLE: Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
AUTHORS: Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa ; Cabral, Joaquim M. S.; Brito, Dulce; Carmo Fonseca, Maria ; Martins, Sandra ; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 76
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation  Full Text
AUTHORS: Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa ; Cabral, Joaquim M. S.; Brito, Dulce; Carmo Fonseca, Maria ; Martins, Sandra ; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: HUMAN CELL, VOLUME: 37, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy  Full Text
AUTHORS: Jager, Joanna; Ribeiro, Marta; Furtado, Marta; Carvalho, Teresa; Syrris, Petros; Lopes, Luis R.; Elliott, Perry M.; Cabral, Joaquim M. S.; Carmo Fonseca, Maria ; da Rocha, Simao Teixeira; Martins, Sandra ;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 81
INDEXED IN: Scopus WOS CrossRef
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TITLE: Principles of novel cellular and molecular cardiovascular therapeutics
AUTHORS: Marta Furtado; Marta Ribeiro; Sandra Martins ; Teresa Carvalho ; Carmo Fonseca, M ;
PUBLISHED: 2024, SOURCE: Genomic and Molecular Cardiovascular Medicine: a Volume in Genomic and Precision Medicine in Clinical Practice
INDEXED IN: Scopus CrossRef
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TITLE: Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay
AUTHORS: Carvalho, T ; Martins, S ; Rino, J; Marinho, S; Carmo Fonseca, M ;
PUBLISHED: 2017, SOURCE: Journal of Cell Science, VOLUME: 130, ISSUE: 9
INDEXED IN: Scopus CrossRef: 25
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TITLE: Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy
AUTHORS: Rita Mendes de Almeida; Joana Tavares; Sandra Martins ; Teresa Carvalho ; Francisco J Enguita ; Dulce Brito; Maria Carmo-Fonseca ; Luís Rocha Lopes;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 8
INDEXED IN: CrossRef: 27 Handle
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TITLE: Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations
AUTHORS: Vaz-Drago, R; Pinheiro, MT ; Martins, S ; Enguita, FJ ; Carmo-Fonseca, M; Custodio, N;
PUBLISHED: 2015, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 10
INDEXED IN: CrossRef
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TITLE: Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3 ' end of human genes  Full Text
AUTHORS: Sandra Bento Martins ; Jose Rino ; Teresa Carvalho ; Celia Carvalho; Minoru Yoshida; Jasmim Mona Klose; Sergio Fernandes de Almeida ; Maria Carmo Fonseca ;
PUBLISHED: 2011, SOURCE: NATURE STRUCTURAL & MOLECULAR BIOLOGY, VOLUME: 18, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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TITLE: Signalling to the nucleus via A-kinase anchoring proteins.
AUTHORS: Collas, P; Martins, SB ; Landsverk, HB;
PUBLISHED: 2004, SOURCE: Symposia of the Society for Experimental Biology, ISSUE: 56
INDEXED IN: Scopus
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TITLE: HA95 and LAP2β mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication
AUTHORS: Martins, S ; Eikvar, S; Furukawa, K; Collas, P;
PUBLISHED: 2003, SOURCE: Journal of Cell Biology, VOLUME: 160, ISSUE: 2
INDEXED IN: Scopus CrossRef
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