Alternative Splicing and Cancer

by Didier Auboeuf, Maria Carmo-Fonseca, Juan Valcarcel, Giuseppe Biamonti
Published 2012-01-01

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

by Marta Ribeiro, Marta Furtado, Sandra Martins, Teresa Carvalho, Maria Carmo-Fonseca
Published 2020-02-01

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
Published 2017-01-01

Live-Cell Visualization of Pre-mRNA Splicing with Single-Molecule Sensitivity

by Robert M. Martin, José Rino, Célia Carvalho, Tomas Kirchhausen, Maria Carmo-Fonseca
Published 2013-09-01

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
Published 2007-10-01

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
Published 2009-07-01

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
Published 2020-04-01

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
Published 2020-04-01

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
Published 2019-01-01

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
Published 2017-01-01

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
Published 2018-01-01

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
Published 2017-01-01

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
Published 2021-04-01

Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation

by Teresa P. Silva, Carolina A. Pereira, Ana Cláudia Raposo, Ana Rita Oliveira, Maria Arez, Joaquim M.S. Cabral, Inês Milagre, Maria Carmo-Fonseca, Simão Teixeira da Rocha
Published 2021-05-01

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
Published 2015-11-01

Maturation of Human Pluripotent Stem Cell-Derived Cerebellar Neurons in the Absence of Co-culture

by Teresa P. Silva, Teresa P. Silva, Evguenia P. Bekman, Evguenia P. Bekman, Evguenia P. Bekman, Tiago G. Fernandes, Sandra H. Vaz, Sandra H. Vaz, Carlos A. V. Rodrigues, Maria Margarida Diogo, Joaquim M. S. Cabral, Maria Carmo-Fonseca
Published 2020-02-01

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
Published 2020-05-01

Catalyzing Transcriptomics Research in Cardiovascular Disease: The CardioRNA COST Action CA17129

by Clarissa Pedrosa da Costa Gomes, Bence Ágg, Andrejaana Andova, Serdal Arslan, Andrew Baker, Monika Barteková, Dimitris Beis, Fay Betsou, Stephanie Bezzina Wettinger, Branko Bugarski, Gianluigi Condorelli, Gustavo José Justo da Silva, Sabrina Danilin, David de Gonzalo-Calvo, Alfonso Buil, Maria Carmo-Fonseca, Francisco J. Enguita, Kyriacos Felekkis, Peter Ferdinandy, Mariann Gyöngyösi, Matthias Hackl, Kanita Karaduzovic-Hadziabdic, Jan Hellemans, Stephane Heymans, Markéta Hlavackova, Morten Andre Hoydal, Aleksandra Jankovic, Amela Jusic, Dimitris Kardassis, Risto Kerkelä, Gabriela M. Kuster, Päivi Lakkisto, Przemyslaw Leszek, Mitja Lustrek, Lars Maegdefessel, Fabio Martelli, Susana Novella, Timothy O’Brien, Christos Papaneophytou, Thierry Pedrazzini, Florence Pinet, Octavian Popescu, Ines Potočnjak, Emma Robinson, Shlomo Sasson, Markus Scholz, Maya Simionescu, Monika Stoll, Zoltan V. Varga, Manlio Vinciguerra, Angela Xuereb, Mehmet Birhan Yilmaz, Costanza Emanueli, Yvan Devaux
Published 2019-03-01