Alternative Splicing and Cancer by Didier Auboeuf, Maria Carmo-Fonseca, Juan Valcarcel, Giuseppe Biamonti

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Live-Cell Visualization of Pre-mRNA Splicing with Single-Molecule Sensitivity by Robert M. Martin, José Rino, Célia Carvalho, Tomas Kirchhausen, Maria Carmo-Fonseca

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Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes. by Vanessa Borges Pires, Ricardo Simões, Kamel Mamchaoui, Célia Carvalho, Maria Carmo-Fonseca

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Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants by Pedro Barbosa, Pedro Barbosa, Marta Ribeiro, Maria Carmo-Fonseca, Alcides Fonseca, Alcides Fonseca

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A stochastic view of spliceosome assembly and recycling in the nucleus. by José Rino, Teresa Carvalho, José Braga, Joana M P Desterro, Reinhard Lührmann, Maria Carmo-Fonseca

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Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1. by João Paulo Tavanez, Rocio Bengoechea, Maria T Berciano, Miguel Lafarga, Maria Carmo-Fonseca, Francisco J Enguita

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Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy by Ana Catarina Gomes, Pedro Santos Barbosa, Ana Coutinho, Inês Cruz, Maria Carmo-Fonseca, Luís Rocha Lopes

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Design Principles for Pluripotent Stem Cell-Derived Organoid Engineering by Teresa P. Silva, João P. Cotovio, Evguenia Bekman, Maria Carmo-Fonseca, Joaquim M. S. Cabral, Tiago G. Fernandes

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Transcription Dynamics Prevent RNA-Mediated Genomic Instability through SRPK2-Dependent DDX23 Phosphorylation by Sreerama Chaitanya Sridhara, Sílvia Carvalho, Ana Rita Grosso, Lina Marcela Gallego-Paez, Maria Carmo-Fonseca, Sérgio Fernandes de Almeida

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Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation by Marta Ribeiro, Sandra Martins, Teresa Carvalho, Marta Furtado, Joaquim Sampaio Cabral, Dulce Brito, Maria Carmo-Fonseca, Simão Teixeira da Rocha

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Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency by Bruno Bernardes de Jesus, Sérgio Pires Marinho, Sara Barros, António Sousa-Franco, Catarina Alves-Vale, Tânia Carvalho, Maria Carmo-Fonseca

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Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. by Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes

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Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations by Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha

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Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA by Teresa P. Silva, Carolina A. Pereira, Ana Rita Oliveira, Ana Cláudia Raposo, Maria Arez, Joaquim M.S. Cabral, Inês Milagre, Maria Carmo-Fonseca, Simão T. da Rocha

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Pervasive transcription read-through promotes aberrant expression of oncogenes and RNA chimeras in renal carcinoma by Ana R Grosso, Ana P Leite, Sílvia Carvalho, Mafalda R Matos, Filipa B Martins, Alexandra C Vítor, Joana MP Desterro, Maria Carmo-Fonseca, Sérgio F de Almeida

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Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy by Joanna Jager, Marta Ribeiro, Marta Furtado, Teresa Carvalho, Petros Syrris, Luis R. Lopes, Perry M. Elliott, Joaquim M.S. Cabral, Maria Carmo-Fonseca, Simão Teixeira da Rocha, Sandra Martins

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Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of <i>BRCA1/2</i> and Homologous Recombination Genes by Noélia Custódio, Rosina Savisaar, Célia Carvalho, Pedro Bak-Gordon, Maria I. Ribeiro, Joana Tavares, Paula B. Nunes, Ana Peixoto, Carla Pinto, Carla Escudeiro, Manuel R. Teixeira, Maria Carmo-Fonseca

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Comprehensive Genomic Profiling of Cell-Free Circulating Tumor DNA Detects Response to Ribociclib Plus Letrozole in a Patient with Metastatic Breast Cancer by Catarina Silveira, Ana Carla Sousa, Patrícia Corredeira, Marta Martins, Ana Rita Sousa, Arnaud Da Cruz Paula, Pier Selenica, David N. Brown, Mahdi Golkaram, Shannon Kaplan, Shile Zhang, Li Liu, Britta Weigelt, Jorge S. Reis-Filho, Luís Costa, Maria Carmo-Fonseca

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c-Abl Activation Linked to Autophagy-Lysosomal Dysfunction Contributes to Neurological Impairment in Niemann-Pick Type A Disease by Tamara Marín, Andrés E. Dulcey, Fabián Campos, Catalina de la Fuente, Mariana Acuña, Mariana Acuña, Juan Castro, Claudio Pinto, María José Yañez, Cristian Cortez, David W. McGrath, Pablo J. Sáez, Kirill Gorshkov, Wei Zheng, Noel Southall, Maria Carmo-Fonseca, Juan Marugán, Alejandra R. Alvarez, Silvana Zanlungo

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A Year in the Life of the EU-CardioRNA COST Action: CA17129 Catalysing Transcriptomics Research in Cardiovascular Disease by Emma Louise Robinson, Clarissa Pedrosa da Costa Gomes, Ines Potočnjak, Jan Hellemans, Fay Betsou, David de Gonzalo-Calvo, Monika Stoll, Mehmet Birhan Yilmaz, Bence Ágg, Dimitris Beis, Maria Carmo-Fonseca, Francisco J. Enguita, Soner Dogan, Bilge G. Tuna, Blanche Schroen, Wim Ammerlaan, Gabriela M. Kuster, Irina Carpusca, Thierry Pedrazzini, Costanza Emanueli, Fabio Martelli, Yvan Devaux

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