Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy

Authors: 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

Source: Stem Cell Research, Vol 81, Iss , Pp 103582- (2024)

Subject Terms: iPSC, Non-canonical splicing variants, MYBPC3, Hypertrophic cardiomyopathy, Biology (General), QH301-705.5

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Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002800; https://doaj.org/toc/1873-5061

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The Influence of Indisulam on Human Immune Effector Cells: Is a Combination with Immunotherapy Feasible?

Authors: Lisa Arnet, Lisabeth Emilius, Annett Hamann, Maria Carmo-Fonseca, Carola Berking, Jan Dörrie, Niels Schaft

Source: Pharmaceutics, Vol 17, Iss 3, p 368 (2025)

Subject Terms: indisulam (E7070), neoantigens, immunotherapy, T cells, dendritic cells, Pharmacy and materia medica, RS1-441

File Description: electronic resource

Relation: https://www.mdpi.com/1999-4923/17/3/368; https://doaj.org/toc/1999-4923

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Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations

Authors: Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha

Source: Stem Cell Research, Vol 76, Iss , Pp 103362- (2024)

Subject Terms: Biology (General), QH301-705.5

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Relation: http://www.sciencedirect.com/science/article/pii/S1873506124000606; https://doaj.org/toc/1873-5061

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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

Authors: Marta Ribeiro, Sandra Martins, Teresa Carvalho, Marta Furtado, Joaquim Sampaio Cabral, Dulce Brito, Maria Carmo-Fonseca, Simão Teixeira da Rocha

Source: Stem Cell Research, Vol 74, Iss , Pp 103282- (2024)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506123002684; https://doaj.org/toc/1873-5061

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Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants

Authors: Pedro Barbosa, Marta Ribeiro, Maria Carmo-Fonseca, Alcides Fonseca

Source: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Subject Terms: hypertrophic cardiomyopathy, computational pathogenicity prediction, missense variant interpretation, genetic testing, variants-of-unknown-significance, prediction tool comparison, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2022.975478/full; https://doaj.org/toc/2297-055X

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c-Abl Activation Linked to Autophagy-Lysosomal Dysfunction Contributes to Neurological Impairment in Niemann-Pick Type A Disease

Authors: Tamara Marín, Andrés E. Dulcey, Fabián Campos, Catalina de la Fuente, 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

Source: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Subject Terms: Niemann-Pick disease, neurodegeneration, c-Abl kinase, autophay-lysosomal pathway, lysosomal storage disorder (LSD), Biology (General), QH301-705.5

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Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.844297/full; https://doaj.org/toc/2296-634X

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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

Authors: 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

Source: Biomolecules, Vol 12, Iss 12, p 1818 (2022)

Subject Terms: liquid biopsy, circulating cell-free DNA, metastatic breast cancer, ribociclib plus letrozole, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/12/12/1818; https://doaj.org/toc/2218-273X

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

Authors: 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

Source: Stem Cell Research, Vol 53, Iss , Pp 102364- (2021)

Subject Terms: Biology (General), QH301-705.5

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Relation: http://www.sciencedirect.com/science/article/pii/S1873506121002105; https://doaj.org/toc/1873-5061

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Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA

Authors: 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

Source: Stem Cell Research, Vol 52, Iss , Pp 102242- (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S187350612100088X; https://doaj.org/toc/1873-5061

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Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes

Authors: 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

Source: Biomedicines, Vol 10, Iss 2, p 199 (2022)

Subject Terms: ovarian cancer, BRCA1/2 mRNA, homologous recombination, nCounter assay, ddPCR, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/2/199; https://doaj.org/toc/2227-9059

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Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency

Authors: Bruno Bernardes de Jesus, Sérgio Pires Marinho, Sara Barros, António Sousa-Franco, Catarina Alves-Vale, Tânia Carvalho, Maria Carmo-Fonseca

Source: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/845a0aaa64034064ba933f5241de3688

Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy

Authors: Ana Catarina Gomes, Pedro Santos Barbosa, Ana Coutinho, Inês Cruz, Maria Carmo-Fonseca, Luís Rocha Lopes

Source: Revista Portuguesa de Cardiologia, Vol 39, Iss 4, Pp 227.e1-227.e9 (2020)

Subject Terms: Miocardiopatia hipertrófica, Estudo genético, Whole-genome sequencing, MYBPC3, Variante intrónica, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0870255120301530; https://doaj.org/toc/0870-2551

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

Authors: Teresa P. Silva, Evguenia P. Bekman, Tiago G. Fernandes, Sandra H. Vaz, Carlos A. V. Rodrigues, Maria Margarida Diogo, Joaquim M. S. Cabral, Maria Carmo-Fonseca

Source: Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)

Subject Terms: human induced pluripotent stem cells, cerebellar differentiation, cerebellar neurons, defined culture condition, co-culture free, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fbioe.2020.00070/full; https://doaj.org/toc/2296-4185

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Transcription Dynamics Prevent RNA-Mediated Genomic Instability through SRPK2-Dependent DDX23 Phosphorylation

Authors: Sreerama Chaitanya Sridhara, Sílvia Carvalho, Ana Rita Grosso, Lina Marcela Gallego-Paez, Maria Carmo-Fonseca, Sérgio Fernandes de Almeida

Source: Cell Reports, Vol 18, Iss 2, Pp 334-343 (2017)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124716317570; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/943adb6b5177439a83a51b14fe26cce6

A Year in the Life of the EU-CardioRNA COST Action: CA17129 Catalysing Transcriptomics Research in Cardiovascular Disease

Authors: 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

Source: Non-Coding RNA, Vol 6, Iss 2, p 17 (2020)

Subject Terms: COST Action, network, non-coding RNA, cardiovascular disease, translational research, interdisciplinary, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.mdpi.com/2311-553X/6/2/17; https://doaj.org/toc/2311-553X

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Design Principles for Pluripotent Stem Cell-Derived Organoid Engineering

Authors: Teresa P. Silva, João P. Cotovio, Evguenia Bekman, Maria Carmo-Fonseca, Joaquim M. S. Cabral, Tiago G. Fernandes

Source: Stem Cells International, Vol 2019 (2019)

Subject Terms: Internal medicine, RC31-1245

File Description: electronic resource

Relation: https://doaj.org/toc/1687-966X; https://doaj.org/toc/1687-9678

Access URL: https://doaj.org/article/e4fbfc3c51f8415dbe03ebfb8c9aa529

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

Authors: Robert M. Martin, José Rino, Célia Carvalho, Tomas Kirchhausen, Maria Carmo-Fonseca

Source: Cell Reports, Vol 4, Iss 6, Pp 1144-1155 (2013)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124713004373; https://doaj.org/toc/2211-1247

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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

Source: PLoS ONE, Vol 12, Iss 8, p e0182946 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0182946&type=printable; https://doaj.org/toc/1932-6203

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Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes.

Authors: Vanessa Borges Pires, Ricardo Simões, Kamel Mamchaoui, Célia Carvalho, Maria Carmo-Fonseca

Source: PLoS ONE, Vol 12, Iss 7, p e0181065 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5524367?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/968dbce9d0f042b385d5f988aeb63e0e

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

Authors: 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

Source: Non-Coding RNA, Vol 5, Iss 2, p 31 (2019)

Subject Terms: cardiovascular disease, transcriptomics, best practices and guidelines, translational research, personalized medicine, Genetics, QH426-470

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Relation: https://www.mdpi.com/2311-553X/5/2/31; https://doaj.org/toc/2311-553X

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