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My first significant exposure to research came during my degree at the University of Aveiro (1998), where I completed two laboratory internships in Animal Physiology and Neurosciences under Professors Maria Ana Santos and Paula Gonçalves. In 1999, I pursued a Master's in Developmental Biology, conducting my thesis at the University of Oslo in Professor Philippe Collas’s lab, where I characterized a novel chromatin and nuclear matrix protein involved in nuclear envelope dynamics. This research continued into my PhD (2000-2003), where I demonstrated the critical role of chromatin and nuclear envelope protein interactions in initiating DNA replication. My findings led to high-impact publications, emphasizing the significance of nuclear architecture in cellular function. Driven by a desire to advance my career in Portugal, I became a postdoctoral fellow in Professor Maria do Carmo Fonseca’s lab at IMM-JLA (2004-2008), shifting my focus to mRNA biogenesis and alternative splicing regulation. In 2009, I joined the Faculty of Medicine at the University of Lisbon as an Auxiliary Professor while continuing my research at MCFonseca’s lab as a staff scientist. Over the past six years, I have focused on mis-splicing in familial cardiomyopathies, playing a key role in developing an iPSC-derived cardiomyocyte model for pathogenic variants validation and RNA-based therapies. I also led a study identifying common alternative splicing signatures in heart failure. My recent research has resulted in impactful publications, a patent, and has been used to grant competitive national and international funding (Novo Nordisk Foundation, Leducq Foundation, British Heart Foundation, “La Caixa” Foundation). Throughout my career, I have secured independent funding (PhD and PostDoc from FCT) and have been actively involved in teaching and mentoring activities, including 12 MSc and 2 PhD students. Now, I am focusing on securing grants as a PI to establish my independent research group.
Identificação

Identificação pessoal

Nome completo
Sandra Cristina Bento Penisga Martins

Nomes de citação

  • Martins, Sandra

Identificadores de autor

Ciência ID
061D-15C7-084D
ORCID iD
0000-0002-7733-4485

Endereços de correio eletrónico

  • martins.sandra@gmail.com (Pessoal)

Websites

Domínios de atuação

  • Ciências Naturais - Ciências Biológicas - Biologia Molecular

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Francês Utilizador elementar (A1) Utilizador elementar (A1) Utilizador elementar (A1)
Norueguês Utilizador elementar (A1) Utilizador elementar (A1)
Formação
Grau Classificação
2003/12/05
Concluído
Biological Sciences PhD. program (Doctor of Philosophy)
Universitetet i Oslo Institutt for medisinske basalfag, Noruega
"Role of the Nuclear Envelope in Modulation of Nuclear Dynamics" (TESE/DISSERTAÇÃO)
2000/07/31
Concluído
Mestrado em Biologia do Desenvolvimento (Mestrado)
Universidade Lusófona de Humanidades e Tecnologias, Portugal
"HA95: a novel chromatin and nuclear matrix protein omplicated in nuclear envelope dynamics" (TESE/DISSERTAÇÃO)
1998/09/07
Concluído
Licenciatura em Biologia (Licenciatura)
Universidade de Aveiro, Portugal
"n/a" (TESE/DISSERTAÇÃO)
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento
Empregador
2018 - Atual Investigador (Investigação) Universidade de Lisboa Centro Cardiovascular da Universidade de Lisboa, Portugal
2009 - Atual Investigador (Investigação) Universidade de Lisboa Faculdade de Medicina, Portugal
2007 - 2008 Investigador Contratado (Investigação) Instituto de Medicina Molecular, Portugal
Instituto de Medicina Molecular, Portugal
2004 - 2006 Pós-doutorado (Investigação) Fundação para a Ciência e a Tecnologia, Portugal
Instituto de Medicina Molecular, Portugal

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2024/02 - Atual Professor Auxiliar Convidado (Docente Universitário) Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2009 - Atual Professor Auxiliar (Docente Universitário) Universidade de Lisboa Faculdade de Medicina, Portugal

Outros

Categoria Profissional
Instituição de acolhimento
Empregador
2014/01/01 - 2015/06/30 Principal Investigator Instituto de Medicina Molecular, Portugal
2004/06/01 - 2008/12/31 Vice-director of Developmental Biology Master Program Universidade Lusófona de Humanidades e Tecnologias, Portugal
Projetos

Bolsa

Designação Financiadores
2011 - 2012 Exploring RNA-targeted gene therapy approaches for Hypertrophic Cardiomyopathy
Orientador
Universidade de Lisboa Faculdade de Medicina, Portugal
Fundação Amadeus Dias Grants
Concluído
2007 - 2008 Postdoctoral Fellowship at the Cell Biology Unit (UBCe), Instituto de Medicina Molecular, under the project "Insights into Novel Therapeutic Strategies for Nuclear Inclusion Disease Caused by Polyalanine Expansion". Supervisor: Professor Maria Carmo-Fonseca (FMUL/IMM).
IMM/BPD/17-2007
Bolseiro de Pós-Doutoramento
Concluído
2004 - 2006 Postdoctoral Fellowship at the Cell Biology Unit (UBCe), Instituto de Medicina Molecular, under the project **"How pre-mRNA splicing may affect cell cycle progression". Supervisor: Professor Maria Carmo-Fonseca (FMUL/IMM).
SFRH/BPD/14908/2004
Bolseiro de Pós-Doutoramento
Fundação para a Ciência e a Tecnologia
Concluído
2000 - 2003 PhD Fellowship (SFRH/BD/772/2000) under the project "Modulation of the Cell Program", funded by the Foundation for Science and Technology (FCT). Supervisor: Professor Philippe Collas (UiO), Faculty of Medicine, University of Oslo, Norway.
SFRH /BD/ 772 / 2000
Bolseiro de Doutoramento
Fundação para a Ciência e a Tecnologia
Concluído

Projeto

Designação Financiadores
2025 - Atual Targeting the MYBPC3 promoter with dCas technology as a therapeutic approach for Hypertrophic Cardiomyopathy
GAPIC #2025014
Co-Investigador Responsável (Co-IR)
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Em curso
2024 - 2029 Optimized Oligo Escape and Control of Disease
#0081287
Investigador
Novo Nordisk Fonden
2022 - 2026 Cardiac Splicing as a Therapeutic Target.
21CVD02 – (CASTT)
Investigador
Leducq Fondation
Em curso
2024 - 2024 The impact of the p. I1250fs MYBPC3 variant in Hypertrophic Cardiomyopathy (HCM): less protein, more disease
GAPIC #20240022
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2022 - 2024 Mutação BRCA2 fundadora Portuguesa: impacto na transcrição e identidade de células estaminais.
PTDC/MED-ONC/3921/2021
Investigador
Fundação para a Ciência e a Tecnologia
Em curso
2020 - 2024 RNA mis-splicing in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy
HR20-00322
Investigador
“La Caixa” Foundation Health Research
Em curso
2017 - 2024 DISCOVERIES CTR: The Discoveries Centre for Regenerative and Precision Medicine
H2020-WIDESPREAD-01-2016-2017-TeamingPhase2
Investigador
Instituto de Medicina Molecular, Portugal
EU Framework Programme for Research and Innovation Euratom
Em curso
2023 - 2023 Impact of variants of unknown significance (VUS) in Hypertrophic Cardiomyopathy
GAPIC #20230019
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2020 - 2023 Investigating the causes of mutation-negative hypertrophic cardiomyopathy: Role of Cryptic RNA mis-splicing in myosin binding protein C (MYBPC3)
BHF PG/20/10170
Investigador
British Heart Foundation
Em curso
2022 - 2022 Exploring a CRISPR base-editing approach to correct hypertrophic cardiomyopathy
GAPIC #20220008
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2018 - 2022 CardioRNA COST Action
CA17129
Investigador
COST (European Cooperation in Science and Technology)
Concluído
2018/07/01 - 2021/06/30 Organóides com edição génica para estudar o impacto funcional de mutações BRCA1 e BRCA2
PTDC/MED-ONC/29469/2017
Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2018/06/01 - 2021/05/31 Generation of gene-edited cerebellar organoids for ataxia research
PTDC/BTM-SAL/29298/2017
Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal

Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2021 - 2021 Assinatura molecular na cardiomiopatia hipertrófica – à descoberta de oportunidades de diagnóstico e terapêutica
GAPIC #20210015
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2021 - 2021 Assinatura molecular na cardiomiopatia hipertrófica – à descoberta de oportunidades de diagnóstico e terapêutica
GAPIC #20210015
Universidade de Lisboa Faculdade de Medicina
2020 - 2020 Estudo do transcriptoma de cardiomiócitos portadores de mutações associadas a Cardiomiopatia Hipertrófica
GAPIC #20200003
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2016 - 2019 Making sense of antisense transcription
PTDC/BEX-BCM/5899/2014
Investigador
Fundação para a Ciência e a Tecnologia
Concluído
2016 - 2019 PRECISE: Accelerating progress toward the new era of precision medicine
Lisboa-01-0145-FEDER-016394
Investigador
Fundação para a Ciência e a Tecnologia
Concluído
2018 - 2018 Confirming the correction of sickle cell anemia using CRISPR-Cas9 system in hematopoietic stem cells by differentiation into erythrocytes
GAPIC #20180020
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2017 - 2017 Correction of sickle cell anemia using CRISPR-Cas9 system in hematopoiec stem cells
GAPIC #20170025
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2016 - 2016 Correção da Depranocitose através de CRISPR
GAPIC #20160009
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2014 - 2015 Exploring new therapeutic approaches for Hypertrophic Cardiomyopathy
EXPL/BIM-MEC/0201/2013
Investigador responsável
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2011 - 2015 RNPnet: RNP structure, function and mechanism of action
Marie Curie Initial Training Network
Investigador
Instituto de Medicina Molecular, Portugal
Concluído
2014 - 2014 Exploring new therapeutic approaches for Hypertrophic Cardiomyopathy
GAPIC #20140010
Investigador responsável
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2012 - 2014 Splicing and stochasticity in programmed cell death decisions
FCT-PTDC/SAU-GMG/ 118180/2010
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2012 - 2014 Identification and manipulation of molecular pathways relevant for age-dependent tissue regeneration
AXA Research Fund
Investigador
Instituto de Medicina Molecular, Portugal
Fonds AXA pour la Recherche
Concluído
2011/01/01 - 2013/02/17 Projecto Estratégico - LA 5 - 2011-2012
PEst-OE/SAU/LA0005/2011
Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2010 - 2013 The role of RNA polymerase II in splicing regulation
FCT-PTDC/SAU-GMG/ 113440/2009
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2012/01/01 - 2012 Exploring RNA-targeted gene therapy approaches for Hypertrophic Cardiomyopathy
Fundação Amadeus Dias Grants
Co-Investigador Responsável (Co-IR)
Instituto de Medicina Molecular, Portugal
Fundação Amadeus Dias Grants
Concluído
2012 - 2012 Exploring RNA-targeted gene therapy approaches for Hypertrophic Cardiomyopathy
GAPIC #20120005
Co-Investigador Responsável (Co-IR)
Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina
Concluído
2009 - 2012 Transcription-coupled mechanisms of gene regulation
FCT- PTDC/BIABCM/101575/2008
Fundação para a Ciência e a Tecnologia
2006 - 2010 EURASNET: European Alternative Splicing Network of Excellence
FP6-LSHG-CT-2005-518238
Bolseiro de Pós-Doutoramento
Instituto de Medicina Molecular, Portugal
Concluído
2006 - 2010 Chromatin Plasticity (FP6- Marie Curie Training Network)
FP6- Marie Curie Training Network
Bolseiro de Pós-Doutoramento
Concluído
2007 - 2009 Mechanisms of splicing regulation by U2AF proteins
FCT- PTDC/SAU-GMG/69739/2006
Bolseiro de Pós-Doutoramento
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2005/07/01 - 2007/06/30 Regulation of mRNA processing and transport within the nucleus
POCI/SAU-MMO/57700/2004
Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
Produções

Publicações

Artigo em revista
  1. Martins, Sandra. Autor correspondente: Martins, Sandra. "Shared splicing dysregulation in heart failure associated with dilated and ischemic cardiomyopathy. Marta Furtado, Pedro Barbosa, Teresa Carvalho, Patrícia Napoleão, Lu Zhang, Przemyslaw Leszek, M. Carmo-Fonseca, Yvan Devaux, Sandra Martins. Under review. Cardiovascular Research. CVR-2025-0217.". Cardiovascular Research (2025):
    Em revisão
  2. Martins, Sandra. "Alternative splicing dynamics during human cardiac development in vivo and in vitro. Beatriz Gomes-Silva, Marta Furtado, Marta Ribeiro, Sandra Martins, Maria Teresa Carvalho, Henrike Maatz, Michael Radke, Michael Gotthardt, Rosina Savisaar, Maria Carmo-Fonseca. Developmental Cell. Submitted. EMID:d1bf73fd8179da72.". Developmental Cell (2025):
    Submetido
  3. Jager, Joanna; Ribeiro, Marta; Furtado, Marta; Carvalho, Teresa; Syrris, Petros; Lopes, Luis R.; Elliott, Perry M.; et al. "Jager J.*, Ribeiro M.*, Furtado M., Carvalho T., Syrris P., Lopes L.R., Elliott P.M., Cabral, J.M.S., Carmo-Fonseca M., da Rocha, S.T. and Martins S.B. (2024) Patient-derived induced pluripotente stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy. Stem Cell Res. 81:103582. doi: 10.1016/j.scr.2024.103582. (2023 IF: 1.20) *Both authors contributed equally". Stem Cell Research 81 (2024): 103582. https://doi.org/10.1016/j.scr.2024.103582.
    10.1016/j.scr.2024.103582
  4. Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa; Cabral, Joaquim M. S.; Brito, Dulce; Carmo-Fonseca, Maria; Martins, Sandra; da Rocha, Simão Teixeira. "Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.S., Brito D., Carmo-Fonseca M., Martins S.B.* and da Rocha, S.T.* (2024) Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G>A mutation. Human cell. 37:1205-1214. doi: 10.1007/s13577-024-01073-y. (2023 IF: 3.40) *Co-corresponding authors.". Human Cell 37 4 (2024): 1205-1214. https://doi.org/10.1007/s13577-024-01073-y.
    10.1007/s13577-024-01073-y
  5. Marta Ribeiro; Joanna Jager; Marta Furtado; Teresa Carvalho; Joaquim M.S. Cabral; Dulce Brito; Maria Carmo-Fonseca; Sandra Martins; Simão Teixeira da Rocha. "Ribeiro M., Martins S.B.*, Carvalho T., Furtado M., Cabral J.S., Brito D., Carmo-Fonseca M. and da Rocha, S.T.* (2023) Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation. Stem Cell Res. 74:103282. doi: 10.1016/j.scr.2023.103282. (2023 IF: 1.20) * Co-corresponding authors.". Stem Cell Research (2024): https://doi.org/10.1016/j.scr.2024.103362.
    10.1016/j.scr.2024.103362
  6. Ribeiro, Marta; Martins, Sandra; Carvalho, Teresa; Furtado, Marta; Sampaio Cabral, Joaquim; Brito, Dulce; Carmo-Fonseca, Maria; da Rocha, Simão Teixeira. "Ribeiro M., Martins S.B.*, Carvalho T., Furtado M., Cabral J.S., Brito D., Carmo-Fonseca M. and da Rocha, S.T.* (2023) Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation. Stem Cell Res. 74:103282. doi: 10.1016/j.scr.2023.103282. (2023 IF: 1.20) * Co-corresponding authors.". Stem Cell Research 74 (2024): 103282. http://dx.doi.org/10.1016/j.scr.2023.103282.
    10.1016/j.scr.2023.103282
  7. Ribeiro; Carvalho; Martins; Faustino. "Ribeiro M., Furtado M., Martins S., Carvalho T. and Carmo-Fonseca M. (2020). RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy. Int. J. Mol. Sci. 2020, 21(4), 1329; https://doi.org/10.3390/ijms21041329.". Catalysts 10 2 (2020): 223. http://dx.doi.org/10.3390/catal10020223.
    Publicado • 10.3390/catal10020223
  8. Teresa Carvalho; Sandra Martins; José Rino; Sérgio Marinho; Maria Carmo-Fonseca. "Carvalho T. *, Martins S.B.*, Rino J., Marinho S. and Carmo-Fonseca M. Pharmacological inhibition of the spliceosome subunit SF3b triggers EJC-independent NMD. J. Cell Sci. Published ahead of print. * These authors contributed equally to this work. doi: 10.1242/jcs.202200.". Journal of Cell Science 130 9 (2017): 1519-1531. https://doi.org/10.1242/jcs.202200.
    10.1242/jcs.202200
  9. Martins, Sandra. "Mendes de Almeida R., Tavares J., Martins S.B., Carvalho T., Enguita F.J., Brito D., Carmo-Fonseca M. and Lopes L.R. Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. PloS One, 12(8):e0182946. 10.1371/journal.pone.0182946". PloS one (2017): http://europepmc.org/abstract/med/28797094.
    10.1371/journal.pone.0182946
  10. Martins, Sandra. "Drago R., Pinheiro, M., Martins S. B., Enguita F., Carmo-Fonseca M. and Custódio N. Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations. Human Molecular Genetics, 24(10):2784-95. doi: 10.1093/hmg/ddv039. Epub 2015 Feb 4.". Human molecular genetics (2015): http://europepmc.org/abstract/med/25652404.
    10.1093/hmg/ddv039
  11. Martins, S.B.; Rino, J.; Carvalho, T.; Carvalho, C.; Yoshida, M.; Klose, J.M.; De Almeida, S.F.; Carmo-Fonseca, M.. "Martins S.B.*, Rino J.*, Carvalho T., Carvalho C., Yoshida M., Klose J.M., Almeida S.F. and Carmo-Fonseca M. Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3´end of human genes. Nature Structural and Molecular Biology, 18, 1115-1123. * These authors contributed equally to this work.". Nature Structural and Molecular Biology 18 10 (2011): 1115-1123. http://www.scopus.com/inward/record.url?eid=2-s2.0-80455164573&partnerID=MN8TOARS.
    10.1038/nsmb.2124
  12. Thompson MD; Percy ME; McIntyre Burnham W; Cole DE. "G protein-coupled receptors disrupted in human genetic disease.". Methods in molecular biology (Clifton, N.J.) (2008): http://europepmc.org/abstract/med/18370233.
    10.1007/978-1-59745-205-2_7
  13. Grosso, A.R.; Martins, S.; Carmo-Fonseca, M.. "Grosso A. R.*, Martins S.* and Carmo-Fonseca, M. The emerging role of splicing factors in cancer. EMBO reports, published ahead online, 10 Oct 2008. * These authors contributed equally to this work.". EMBO Reports 9 11 (2008): 1087-1093. http://www.scopus.com/inward/record.url?eid=2-s2.0-55549143293&partnerID=MN8TOARS.
    10.1038/embor.2008.189
  14. Collas, P.; Martins, S.B.; Landsverk, H.B.. "Collas P., Martins S. And Landsverk H. Signalling to the nucleus via A-kinase anchoring proteins. Symp Soc Exp Biol. 56, 245-63.". Symposia of the Society for Experimental Biology 56 (2004): 245-263. http://www.scopus.com/inward/record.url?eid=2-s2.0-21644448292&partnerID=MN8TOARS.
  15. Martins, S.; Eikvar, S.; Furukawa, K.; Collas, P.. "Martins S., Eikvar S., Furukawa K. and Collas P. HA95 and LAP2ß mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication. J. Cell Biol. 160, 177-188.". Journal of Cell Biology 160 2 (2003): 177-188. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037455537&partnerID=MN8TOARS.
    10.1083/jcb.200210026
  16. Martins, S.B.; Marstad, A.; Collas, P.. "Martins S. and Collas P. In vitro modulation of the interaction between HA95 and LAP2ß. Biochemistry 42, 10456-10461.". Biochemistry 42 35 (2003): 10456-10461. http://www.scopus.com/inward/record.url?eid=2-s2.0-0042819600&partnerID=MN8TOARS.
    10.1021/bi0350699
  17. Martins, S.B.; Eide, T.; Steen, R.L.; Jahnsen, T.; Skalhegg, B.S.; Collas, P.. "Martins S., Eide T., Jahnsen T., Skålhegg B.S. and Collas P. HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics. J. Cell Sci. 113, 3703-3713.". Journal of Cell Science 113 21 (2000): 3703-3713. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033677568&partnerID=MN8TOARS.
  18. Steen, R.L.; Martins, S.B.; Taskén, K.; Collas, P.. "Steen R.L., Martins S.B., Taskén K. and Collas P. Recruitment of Protein Phosphatase 1 to the Nuclear Envelope by A-Kinase Anchoring Protein (AKAP) 149 is a prerequisite for nuclear lamina assembly. J. Cell Biol. 150, 1251-1261.". Journal of Cell Biology 150 6 (2000): 1251-1261. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034683658&partnerID=MN8TOARS.
    10.1083/jcb.150.6.1251
Capítulo de livro
  1. Furtado, Marta; Ribeiro, Marta; Martins, Sandra; Carvalho, Teresa; Carmo-Fonseca, M.. "Furtado M., Ribeiro M., Martins S.B., Carvalho T. and Carmo-Fonseca, M. Chapter 21 - Principles of novel cellular and molecular cardiovascular therapeutics. Editor(s): Dhavendra Kumar, Arthur A.M. Wilde, Perry Mark Elliott, In Genomic and Precision Medicine in Clinical Practice, Genomic and Molecular Cardiovascular Medicine, Academic Press, 351-364. Doi: 10.1016/B978-0-12-822951-4.00042-4.". In Genomic and Molecular Cardiovascular Medicine, 351-364. Elsevier, 2024.
    10.1016/b978-0-12-822951-4.00042-4
Poster em conferência
  1. Gonçalves M., Furtado M., Carmo-Fonseca M., Martins S. . Autor correspondente: Gonçalves M., Furtado M., Carmo-Fonseca M., Martins S.. "2024 Gonçalves M., Furtado M., Carmo-Fonseca M., Martins S. “The impact of the p. I1250fs MYBPC3 variant in Hypertrophic Cardiomyopathy (HCM): less protein, more disease”. 11 December. 27.º GAPIC Workshop “Educação pela Ciência”, FMUL, Lisbon, Portugal.". Trabalho apresentado em 27.º GAPIC Workshop “Educação pela Ciência”, 2024.
  2. Furtado M., Barbosa P., Carvalho T., Silva B., Napoleão P., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S. . Autor correspondente: Furtado M., Barbosa P., Carvalho T., Silva B., Napoleão P., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S.. "2024 Furtado M., Barbosa P., Carvalho T., Silva B., Napoleão P., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S. Alternative splicing is similarly dysregulated in end-stage heart failure caused by genetic and ischemic cardiomyopathy. 11 – 14 June. ISHR-ES 2024, Toulouse, France.". 2024.
  3. Furtado M., Ribeiro M., Jager J., Proença J., Morais V., Syrris P., Lopes L., Elliot P., da Rocha S.T., Cabral J., Marti. "2024 Furtado M., Ribeiro M., Jager J., Proença J., Morais V., Syrris P., Lopes L., Elliot P., da Rocha S.T., Cabral J., Martins S., Carvalho T., Carmo-Fonseca M. “Exploring non-canonical splicing mutations in Hypertrophic Cardiomyopathyusing hiPSC-derived cardiomyocytes.” 28 May-2 June. RNA Meeting 2024, Edinburgh, UK.". 2024.
  4. Martins, Sandra. "2024 Furtado M., Barbosa P., Napoleão P., Piqueras C., Carvalho T., Ribeiro M., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S. “An alternative splicing signature of genetic and ischemic dilated cardiomyopathy.” 28 May-2 June. RNA Meeting 2024, Edinburgh, UK.". 2024.
  5. Furtado M. "2023 Furtado M., Barbosa P., Piqueras C., Napoleão P., Carvalho T., Ribeiro M., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S. Alternative splicing is similarly dysregulated in genetic and ischemic cardiomyopathy. 26-27 January. RNA IN DISEASE, IX ptRNA meeting, Lisbon, Portugal.". 2023.
  6. Gomes -Silva B. "2023 Gomes-Silva B., Ribeiro M., Furtado M., Carvalho T., Martins S., Barbosa P., Savissar R., Carmo-Fonseca M. Differences in the regulation of human cardiac splicing during development in vivo and in vitro. 26-27 January. RNA IN DISEASE, IX ptRNA meeting, Lisbon, Portugal.". 2023.
  7. Demianenko L.. "2023 Demianenko L., Furtado M., Carvalho T., Martins S., Carmo-Fonseca M., Proença J.T. CRISPR-mediated activation of MYBPC3 expression in cardiomyocytes derived from human induced pluripotent stem cells. 26-27 January. RNA IN DISEASE, IX ptRNA meeting, Lisbon, Portugal.". 2023.
  8. Furtado M. "2023 Furtado M., Barbosa P., Piqueras C., Napoleão P., Carvalho T., Ribeiro M., Przemyslaw L., Devaux Y., Carmo-Fonseca M., Martins S. An alternative splicing signature of genetic and ischemic dilated cardiomyopathy. 22-24 February. COST Action CardioRNA MC and WG Meeting, Nicosia, Cyprus.". 2023.
  9. Furtado M. "2023 Furtado M., Proença J., Ribeiro M., Martins S., Carvalho T., Carmo-Fonseca M. Single-cell contractility assays in iPSC-derived models of hypertrophic cardiomyopathy. 28-30 August. Conceptual Power of Single Cell Biology, San Diego, USA.". 2023.
  10. Furtado M. "2023 Furtado M., Proença J., Ribeiro M., Pham K., Jager J., Carvalho T., Martins S., Carmo-Fonseca M. Developing targeted therapeutic approaches for MYBPC3 splicing mutations in Hypertrophic Cardiomyopathy. 12-13 October. EMBO Young Scientists´ Forum, Lisbon, Portugal.". 2023.
  11. Ribeiro M. "2023 Ribeiro M., Martins S., Carvalho T., Furtado M., Cabral J.S., Brito D., Carmo-Fonseca M., da Rocha, S.T. Generation of patient-derived iPSCs from hypertrophic cardiomyopathy patients. 12-13 October. EMBO Young Scientists´ Forum, Lisbon, Portugal.". 2023.
  12. Gomes-Silva B. "2023 Gomes-Silva B., Furtado M., Ribeiro M., Carvalho T., Martins S., Barbosa P., Savisaar R., Carmo-Fonseca M. Cardiac splicing during development in vivo and in vitro. 12-13 October. EMBO Young Scientists´ Forum, Lisbon, Portugal.". 2023.
  13. da Gama M.M.C.. "2023 da Gama M.M.C., Furtado M., Martins S., Carmo-Fonseca M., Carvalho T. Human induced pluripotent stem cells derived cardiomyocytes as a cellular model to study variants of unknown significance (VUS) in Hypertrophic Cardiomyopathy. 13 December. 26.º GAPIC Workshop “Educação pela Ciência”, FMUL, Lisbon, Portugal.". 2023.
  14. da Gama M.M.R.. "2023 da Gama M.M.R., Furtado M., Carvalho T., Carmo-Fonseca M., Martins S. Impact of variants of unknown significance (VUS) in Hypertrophic Cardiomyopathy. 13 December. 26.º GAPIC Workshop “Educação pela Ciência”, FMUL, Lisbon, Portugal.". 2023.
  15. Furtado M. "Furtado M., Ribeiro M., Martins S., Carvalho T., Félix R., Carmo-Fonseca M. An mRNA-based approach to restore MYBPC3 protein levels in cardiomyocytes differentiated from iPSCs harboring a hypertrophic cardiomyopathy mutation. 10-11 March 2022. 12th International Meeting of the Portuguese Society for stem cells and cell therapies, Braga, Portugal.". 2022.
  16. Furtado M. "Furtado M., Ribeiro M., Proença J., Carvalho T., Martins S., Carmo-Fonseca M. Targeting MYBPC3 splicing mutations in Hypertrophic Cardiomyopathy. 12 July. RiboMed Satellite Conference on RNA in Disease, Lisbon, Portugal.". 2022.
  17. Martins, Sandra. "Furtado M., Barbosa P., Piqueras C., Napoleão P., Carvalho T., Ribeiro M., Przemyslaw L., Vausort M., Devaux Y., Carmo-Fonseca M. and Martins S. Alternative splicing is similarly dysregulated in genetic and ischemic cardiomyopathy. 25-27 May. EU-CARDIO RNA 8th MC and WG Meeting, Pavia, Italy.". 2022.
  18. Martins, Sandra. "Martins S., Carvalho T., Ribeiro M., Furtado M., Barbosa P., Tavares J., Lopes L., Syrris P.P., Akhtar M., Elliot P. and Carmo-Fonseca M. A cell model in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy. European infrastructure for translational medicine (EATRIS) Annual meeting, INFARMED, Lisbon, Portugal, February 11-12, 2020.". 2020.
  19. Carvalho, Teresa; Martins, Sandra; Ribeiro Marta; Furtado Marta; Carmo-Fonseca, M; Lopes Luís; Tavares, Joana; Petros Syrris P; Mohammed Akhtar. "Ribeiro M., Furtado M., Carvalho T., Martins S., Tavares J., Lopes L., Syrris P P., Akhtar M., Elliot P., Carmo-Fonseca M. (2019) An improved tissue engineering protocol to generate cardiomyocytes from patient iPSCs. Annual Meeting of the ESC Working Group on Myocardial & Pericardial Diseases. Coruña, Spain, 4-5 October 2019.". Trabalho apresentado em Annual Meeting of the ESC Working Group on Myocardial & Pericardial Diseases, 2019.
  20. Martins, Sandra. "Ribeiro M, Furtado M, Carvalho T, Martins S, Tavares J, Lopes L, Syrris P P, Akhtar M, Elliot P and Carmo-Fonseca M. An improved tissue engineering protocol to generate cardiomyocytes from patient iPSCs. Annual meeting of the ESC Working Group on Myocardial & Pericardial Diseases (M&PD 2019), Corunã, Spain, October 4-5, 2019.". 2019.
  21. Martins, Sandra. "Gonçalves R. , Ribeiro M. , Martins S., Carvalho T., and Carmo-Fonseca M. Analysis of alternative splicing in hiPSC derived cardiomyocytes. 10th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies, Covilhã, Portugal.". 2017.
  22. Carvalho, Teresa; Gonçalves Rodrigo; Ribeiro Marta; Martins, Sandra; Carmo-Fonseca, M. "Gonçalves Rodrigo, Ribeiro M., Martins S., Carvalho T., Carmo-Fonseca (2017). Analysis of alternative splicing in hiPSC derived cardiomyocytes. 10th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies, Covilhã, Portugal, 12-14 Oct, 2017". Trabalho apresentado em 10th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies, 2017.
  23. Martins, Sandra. "Martins S., Carvalho, T., Mendes de Almeida, R., Santos, C. and Carmo-Fonseca M. Using the CRISPR technology to develop cellular models of Hypertrophic Cardiomyopathy. CRISPR 2015 Oxford Symposia, St Hilda´s College, Oxford, UK.". 2015.
  24. Martins, Sandra. "Mendes de Almeida R., Carvalho T., Martins S. B. and Carmo-Fonseca M. Exploring New Therapeutic Approaches for Hypertrophic Cardiomyopathy. HEART WITH/OUT BORDERS– cardiovascular development, disease & repair, International Conference, Porto, Portugal.". 2014.
  25. Martins, Sandra. "Mendes de Almeida R., Carvalho T., Martins S., Carmo-Fonseca M. Exploring New Therapeutic Approaches for Hypertrophic Cardiomyopathy. 7th PhD Student Meeting, IMM, Lisbon, Portugal.". 2013.
  26. Martins, Sandra. "Mendes de Almeida R., Carmo-Fonseca M., Martins S. B. and Carvalho T. A novel RNA based therapy to Hypertrophic Cardiomyopathy. Portuguese RNA Meeting, Lisbon, Portugal.". 2012.
  27. Martins, Sandra. "Marinho S., Carvalho T., Martins S. B. and Carmo-Fonseca M. cDNA synthesis kits: which, when and why. Portuguese RNA Meeting, Lisbon, Portugal.". 2012.
  28. Martins, Sandra. "Mendes de Almeida R., Freitas, A.C., Carvalho T., Martins S. B. and Carmo-Fonseca M. A novel RNA based therapy to Hypertrophic Cardiomyopathy. FEBS RNA Workshop, Tavira, Portugal.". 2012.
  29. Martins, Sandra. "Marinho S., Carvalho T., Martins S. B. and Carmo-Fonseca M. Comparative analysis of cDNA synthesis kits: which, when and why. FEBS RNA Workshop, Tavira, Portugal.". 2012.
  30. Martins, Sandra. "Carvalho T., Martins S. B. and Carmo-Fonseca M. Non productive spliceosome assembly is sufficient to export unspliced RNA to the cytoplasm. FEBS RNA Workshop, Tavira, Portugal.". 2012.
  31. Martins, Sandra. "Carvalho T., Martins S. B. and Carmo-Fonseca M. Non productive spliceosome assembly is sufficient to export unspliced RNA to the cytoplasm. EMBL/EMBO Symposium "The complex life of mRNA", EMBL, Heidelberg, Germany.". 2012.
  32. Martins, Sandra. "Carvalho T., Martins S., Rino J., Carvalho C., Braga J. and Carmo-Fonseca M. Imaging spliceosome assembly dynamics in live cells. Nuclear Organization and Function, Cold Spring Harbor Symposium, CSH, NY, USA.". 2010.
  33. Martins, Sandra. "Martins S., Carvalho T., Carvalho C. and Carmo-Fonseca M. The splicing inhibitor Spliceostatin A induces accumulation of unspliced transcripts in nuclear speckles. Nuclear Organization and Function, Cold Spring Harbor Symposium, CSH, NY, USA.". 2010.
  34. Martins, Sandra. "Carvalho T., Martins S., Rino J., Carvalho C., Braga J., Almeida S. and Carmo-Fonseca M. Splicing affects in vivo dynamics of pre mRNA transcription. Nuclear Structure and Dynamics, EMBO Conference, L´Isle sur la Sorgue, France.". 2009.
  35. Martins, Sandra. "Martins S. and Carmo-Fonseca M. RNAi-mediated knockdown of the Ski-interacting protein (SKIP) affects splicing of cell cycle genes. Nuclear Structure and Dynamics, EMBO Conference, L´Isle sur la Sorgue, France.". 2009.
  36. Martins, Sandra. "Borlido J., Martins S., Mollet I. and Carmo-Fonseca M. RT-PCR validation of U2AF35 and U2AF35-like alternatively spliced isoforms predicted through bioinformatic strategies. Pre-mRNA processing and disease, EMBO Workshop. Cortina d’Ampezzo, Italy.". 2007.
  37. Martins, Sandra. "Martins S. and Carmo-Fonseca M. RNAi-mediated knockdown of the Ski-interacting protein (SKIP) affects splicing of cell cycle genes. RNA Meeting 2006, 11th Annual Meeting of the RNA Society, Seattle, Washington, USA.". 2006.
  38. Martins, Sandra. "Martins S. and Carmo-Fonseca M. RNAi-mediated knockdown of the Ski-interacting protein (SKIP) affects splicing of cell cycle genes. 3rd Portuguese RNA Meeting, Aveiro, Portugal.". 2006.
  39. Martins, Sandra. "Marstad A., Martins S. and Collas P. A nuclear envelope-chromatin interaction mediated by LAP2b and HA95: in vitro modulation by cAMP signaling. Communication and Gene Regulation at the Nuclear Envelope, Society for Experimental Biology Symposium, Durham, UK.". 2003.
  40. Martins, Sandra. "Collas P. and Martins S. Progressing by talking to the nuclear envelope. Communication and Gene Regulation at the Nuclear Envelope, Society for Experimental Biology Symposium, Durham, UK,.". 2003.
  41. Martins, Sandra. "Martins S., Eikvar S., Furukawa K., Skålhegg B.S. and Collas P. A direct interaction of the inner nuclear membrane protein LAP2b with chromatin-associated HA95. EMBO Workshop "The functional organization of the cell nucleus", Prague, Czech Republic.". 2002.
  42. Martins, Sandra. "Martins S., Eide T., Jahnsen T., Skålhegg B.S. and Collas P. HA95: a novel chromatin and nuclear matrix protein implicated in nuclear envelope dynamics. Biol.Cell. 92, 135-174. Congress of the French Society of Cell Biology, Paris, France.". 2000.
  43. Martins, Sandra. "Steen R.L., Martins S.B. and Collas P. A kinase/ phosphatase complex at the nuclear envelope. Biol.Cell. 92, 135-174. Congress of the French Society of Cell Biology, Paris, France.". 2000.
Tese / Dissertação
  1. Martins, Sandra. "2003 Martins S. Role of the Nuclear Envelope in Modulation of Nuclear Dynamics. PhD Thesis. ISBN 82-8072-108-8, Department of Medical Biochemistry, Faculty of Medicine, University of Oslo, Norway.". Doutoramento, Universitetet i Oslo Det medisinske fakultet, 2003.
  2. "2000 Martins S. HA95: A Novel Chromatin and Nuclear Matrix Protein Implicated in Nuclear Envelope Dynamics. Master’s Thesis, Department of Medical Biochemistry, Faculty of Medicine, University of Oslo, Norway.". Mestrado, Universitetet i Oslo Det medisinske fakultet, 2000.

Propriedade Intelectual

Patente
  1. Ribeiro M (25%), Martins S (20%), Furtado M (15%), Carvalho T (15%), Carmo-Fonseca M (10%), Diogo M (10%), Cabral J (5%). 2021. "Methods of Cardiomyocyte Production". Reino Unido.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2025/02/16 "RNA: a molécula da vida". CONFERÊNCIA DE ENCERRAMENTO, 19º Congresso Português de Hipertensão, Hotel Grande Real Santa Eulália, Algarve, 13 a 16 de Fevereiro de 2025. 19º Congresso Português de Hipertensão
(Albufeira, Portugal)
2023 An hiPSC model for the study of cardiac disease and its application to test splicing modulation using ASOs, COST Action CardioRNA MC and WG Meeting, 22-24th February, Nicosia, Cyprus.
(Nicosia, Chipre)
2020 Furtado M, Martins S, Carvalho T, Ribeiro M, Proença J, Barreto V, and Carmo-Fonseca M. Gene edited iPSC-derived cardiomyocytes reveal RNA splicing defects in Hypertrophic Cardiomyopathy. 24th Annual Meeting of Sociedade Portuguesa de Genética Humana, online meeting, November 20, 2020. (Oral Presentation).
2015 Martins, S. "Exploring new therapeutic approaches for hypertrophic cardiomyopathy". Lisbon BioMed PhD.Program, Instituto de Medicina Molecular, Lisboa, Portugal.
2015 Martins, S. "Exploring new therapeutic approaches for hypertrophic cardiomyopathy". Reunião Anual Grupo de Estudo de Doenças do Miocárdio e do Pericárdio, Sociedade Portuguesa de Cardiologia, Óbitos, Portugal.
2015 Martins, S. "Exploring new therapeutic approaches for hypertrophic cardiomyopathy". Master in Biomedical Technologies, Instituto Superior Técnico, Lisboa, Portugal.
2014 Martins, S. and Carmo-Fonseca, M. "Scientific investigation and rare genetic diseases in Portugal", Workshop "Science and Innovation: closer than rare.", European Parliament, Brussels, Belgium Workshop “Science and Innovation: closer than rare”
European Parliament (Brussels, Bélgica)
2014 Martins, S. "From point-to-care to genomics research: how a new research center will unleash the full potential of personalized medicine in rare diseases". MEMBS, 1st Middle East Molecular Biology Congress and Exhibition, Dubai World Trade Center, United Arab Emirates.
2014 Martins S. Discussion board for new therapeutic approaches in lysosomal diseases. 8th B4B Workshop and InNerMeD Information Network and 1st Open Conference, Frankfurt, Germany.
2013 Martins, S., "When nuclear structure meets disease: the laminopathies", IGC PhD. Program, Cell Biology Course, Lisbon, Portugal. IGC PhD. Program, Cell Biology Course
IGC (Lisboa, Portugal)
2009 Martins, S. et al., "Live-cell imaging reveals cross-talk between spliceosome assembly and RNA Polymerase II dynamics", RNA Meeting 2009, 14th Annual Meeting of the RNA Society, Madison, Wisconsin, U.S.A.
( Madison, Wisconsin, Estados Unidos)
2005 Martins, S. and Carmo-Fonseca, M. "The Human SKIP is a splicing regulator in mammals.", 2nd Portuguese RNA Meeting, Instituto de Medicina Molecular, Lisboa, Portugal. 2nd Portuguese RNA Meeting
Instituto de Medicina Molecular (Lisboa, Portugal)
2004 Martins, S. "HA95: a chromatin-associated protein implicated in nuclear envelope dynamics and initiation of DNA replication", Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal. Open lecture
Faculdade de Medicina de Lisboa, Universidade de Lisboa (Lisboa, Portugal)
2003 Martins S. The importance of cytoplasmic RNA sorting. Faculdade de Medicina, Universidade de Oslo, Noruega.

Orientação

Título / Tema
Papel desempenhado
Curso (Tipo)
Instituição / Organização
2021 - Atual 2021 until date - Co-orientation of the PhD. thesis of Marta Furtado, entitled "Splicing modulation using antisense oligonucleotides: a therapeutic opportunity for Hypertrophic Cardiomyopathy", Doctoral Program of Medical Academic Center (CAML), University of Lisbon, Portugal.
Coorientador de Marta Furtado
Universidade de Lisboa Faculdade de Medicina, Portugal
2024/09 - 2025/01 Orientation of the laboratory rotation of Gil Silva, entitled “Evaluating splicing drugs as therapeutics tools in Hypertrophic Cardiomyopathy”, within the Curricular Unit of Guided Study of the Cell Biology and Biotechnology Program at the Faculty of Sciences, University of Lisbon (FCUL), Instituto de Medicina Molecular, Lisbon, Portugal.
Orientador
2024 - 2025 Co-Orientation of the laboratory training of Gonçalo da Silva Fonseca, 28º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2500 euros).
Coorientador
2024 - 2024 Orientation of the laboratory training of Manuel Francisco Fronteira Gonçalves, 27º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2500 euros).
Orientador
2023 - 2024 Orientation of the Master thesis of Duarte Gabriel Pires Antunes Viegas Brás, entitled “Splicing Regulation in Heart Failure”, from the integrated Master Course in Medicine of Faculty of Medicine of University of Lisbon, Portugal.
Orientador
2023 - 2024 Orientation of the Master thesis of Bárbara Lopes dos Santos, entitled “A link between Primary Cilia and Gaucher disease”, from the Master’s in Evolutionary and Developmental Biology, Department of Animal Biology, Faculty of Sciences, University of Lisbon, Portugal.
Orientador
2023/05 - 2023/07 Supervision of final work of the European Bachelor´s degree in Genetics of Djonkounda Dembele entitled "The Impact of variants of unknown significance (VUS) in Hypertrophic Cardiomyopathy", Institute of Molecular Medicine, Lisbon, Portugal / University Diderot, Paris, France.
Orientador
2023 - 2023 Orientation of the laboratory training of Maria Matilde Ribas de Calheiros da Gama , 26º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2000 euros).
Orientador
2022/06 - 2022/07 "In Vivo Cellular Models of cardiomyopathies” of Markos Drakos, Summer internship, Instituto de Medicina Molecular, Lisboa, Portugal / Cambridge Medical School, UK.
Orientador
2022/05 - 2022/07 Supervision of final work of the European Bachelor´s degree in Genetics of Alicia Li entitled "The impact of MYBPC3 splicing variants in Hypertrophic Cardiomyopathy", Institute of Molecular Medicine, Lisbon, Portugal / University Diderot, Paris, France.
Orientador
2022 - 2022 Co-orientation of the laboratory training of Sofia Pereira Simões Duarte Vistas , 25º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2500 euros).
Coorientador
2021 - 2021 Co-orientation of the laboratory training of Avinindita Nura Lestari, Standard Research Exchange Project, Summer Interships, 1st- 31th July 2021, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2021 - 2021 Orientation of the Master thesis of de Carla Piqueras, entitled "Alternative splicing as an adaptive response to cardiac disease: an analysis of splicing events in patients with cardiomyopathy”, from Magistere of Genetics, Paris Diderot University, France.
Orientador
2019 - 2020/07/30 Supervision of final work of the European Bachelor´s degree in Genetics of Carla Piqueras, entitled "Insights into cardiomyocytes model´s validation", Institute of Molecular Medicine, Lisbon, Portugal / University Diderot, Paris, France.
Orientador
2019 - 2020/07/02 Supervision of final work of the Bachelor´s degree in Molecular and Cellular Biology of Rodrigo Filipe Fernandes Narciso, entitled “Characterization of a gene-edited cell model to study mis-splicing in MYBPC3”, Institute of Molecular Medicine, Lisbon, Portugal / Faculty of Sciences and Technology, UNL, Portugal.
Coorientador
2017 - 2020/05/22 2017/2020 - Co-orientation of the PhD. thesis of Marta de Jesus Ribeiro, entitled “Developing cellular models for Hypertrophic Cardiomyopathy”, PhD in Bioenginnering, Institute of Molecular Medicine and Biosciences and Biotechnology Institute, University of Lisbon, Portugal.
Coorientador
2019 - 2020 Orientation of the Master thesis of Beatriz Lopes Draiblate, entitled “Correction of sick-cell anemia using CRISPR-Cas9 system in hematopoietic stem cells”, from the integrated Master Course in Medicine of Faculty of Medicine of University of Lisbon, Portugal.
Orientador
2019/07 - 2019/07 Co-orientation of the laboratory training of Yasmin Abdou and Daniel Dali de Anda Gallo, Standard Research Exchange Project, Summer Interships, 1st- 31th July 2019, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2019 - 2019 Orientation of the Master thesis of Marta Isabel Brandão Furtado Furtado, entitled "Developing gene-edited models to study mis-splicing in Hypertrophic Cardiomyopathy" from the Master Program in Molecular Genetics and Biomedicine, Faculdade de Ciências e Tecnologia Universidade Nova de Lisboa, Portugal.
Orientador
2018 - 2019 Orientation of the laboratory training of João Sousa, 23º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2250€).
Orientador
2018/07 - 2018/07 Co-orientation of the laboratory training of Krešimir Jemric and Nikolaj Winther, Standard Research Exchange Project, Summer Interships, 1st- 31th July 2018, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2017 - 2018 Co-orientation of the Master thesis of Rodrigo Paiva Gonçalves, entitled "Production of cardiomyocytes by direct reprogramming of human adult somatic cells" from the Master Program in Molecular Biology and Genetics, Faculty of Sciences, University of Lisbon, Portugal.
Coorientador
2017 - 2018 Co-orientation of the laboratory training of Beatriz Lopes Draiblate, 21º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 1750€).
Orientador
2016 - 2017 Orientation of the laboratory training of Beatriz Lopes Draiblate, 20º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2250€).
Orientador
2015 - 2016 Orientation of the laboratory training of Beatriz Lopes Draiblate, 19º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 2500€)
Orientador
2015 - 2016 Co-orientation of the laboratory training of Pascale Francis and Jacqueline Larizza, Standard Research Exchange Project, Summer Interships, 1st- 31th July 2016, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2015 - 2016 Co-orientation of the laboratory activities of students from Colégio Valsassina, participating in the activity “A minha Primeira Experiência no mundo do trabalho”. 15th-17th June 2016, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2014 - 2015 Orientation of the laboratory training of Catarina Sofia Micaelo Fernandes, 18º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal
Orientador
2014 - 2015 Co-orientation of the laboratory training of Ariana Peredo, Filipe Correia and Patricia Curto, IST Summer Interships, July and September 2015, IMM, Lisbon, Portugal.
Coorientador
2014 - 2015 Co-orientation of the laboratory activities of students from Colégio Valsassina, participating in the activity “A minha Primeira Experiência no mundo do trabalho”. 15th-19th June 2015, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Coorientador
2014 - 2015 Co-orientation of the Project ” Polimorfismo de Inserção no locus Alu PV92 em alunos do Ensino Secundário do Colégio Valsassina”. Madalena Carvalho e Rita Marques Pinto, 28th-30th May 2015, awarded at IX Mostra Nacional de Ciência, 23º Concurso Jovens Cientistas e Investigadores, Lisbon, Portugal.
Coorientador
2013 - 2014 Orientation of the Master thesis of Catarina Santos entitled "Exploring RNA-targeted gene therapy approaches for Hypertrophic Cardiomyopathy" from the Master Program in Human Biology and Environment, Faculty of Sciences, University of Lisbon, Portugal.
Orientador
2013 - 2014 Orientation of the laboratory training of Catarina Filipe Santos Ribeiro, 17º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal (funded, 650 €)
Orientador
2011 - 2012 Co-orientation of the laboratory training of Ana Carolina Lemos Freitas, 15º GAPIC Program "Educação pela Ciência", Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal.
Orientador
2007 - 2008 Co-orientation of the Master thesis of João Palma entitled “The Zebrafish as a Model for Evaluation of Dimethoate, an Environmental Toxin, on Early Development – Part II”, from the Developmental Biology Master Program, ULHT.
Coorientador
2007 - 2008 Co-orientation of the Master thesis of Cátia Traça entitled “Description of new MHC-DRB sequences in Lemur catta and its contribution for the understanding of genetic diversity in lemurs” ( in collaboration with Prof. Leslie Knapp from the Biological Anthropology Department of Cambridge University, UK).
Coorientador
2004 - 2005 Co-orientation of the Master thesis of Yuri Weber Leite entitled “Effects of Retinoic Acid on the Tail Fin Development in Zebrafish”, from the Developmental Biology Master Program, ULHT.
Coorientador
2004 - 2005 Co-orientation of the Master thesis of Maria do Céu Afonso da Conceição entitled “The Zebrafish as a Model for Evaluation of Dimethoate, an Environmental Toxin, on Early Development”, from the Developmental Biology Master Program, ULHT.
Coorientador
2004 - 2005 Co-orientation of the Master thesis of Susana Isabel Caeiro Magrito entitled “Effect of Ethanol on Cranial Development of Zebrafish”, from the Developmental Biology Master Program, ULHT.
Coorientador

Júri de grau académico

Tema
Tipo de participação
Nome do candidato (Tipo de grau)
Instituição / Organização
2024/10/24 “From mouse to humans: the role of XIST RNA in the initiation and maintenance of X-chromosome inactivation”. Júri das Provas de Doutoramento de Ana Claúdia Bernardino Raposo em Ciências Biomédicas, especialidade de Biologia Celular e Molecular, no âmbito do Programa Doutoral do Centro Académico de Medicina de Lisboa, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Vogal
Ana Claúdia Bernardino Raposo (Doutoramento)
2021/04 "Diagnóstico Molecular em Leucemia Mieloide”. Arguente das Provas de Mestrado de Catarina Alexandre Sousa Martins, em Tecnologias Clínico Laboratoriais, ESReSL-IPL, Lisboa, Portugal.
Arguente principal
Catarina Alexandre Sousa Martins, (Mestrado)
2014/10/04 “Efeito da exposição de neutrões no desenvolvimento do organismo C. elegans”. Arguente Principal das Provas de Mestrado de Renata Neves, em Ciências Nucleares Aplicadas na Saúde, Escola Superior de Tecnologia da Saúde de Coimbra, Coimbra, Portugal.
Arguente principal
Renata Neves (Mestrado)

Arbitragem científica em conferência

Nome da conferência Local da conferência
2024/09/20 - Atual Participation as Chair of the session regarding next future application grants, in the context of the 2nd extended CG meeting of COST Action CA21153 AtheroNET. Heraklion, Greece. 18th-20th September 2024. Heraklion, Greece.

Arbitragem científica em revista

Nome da revista (ISSN) Editora
2024 - 2024 Revisor ad hoc do artigo “A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy”, PLOS ONE (Manuscript # PONE-D-24-02388R1).
2013 - 2013 Revisor ad hoc do artigo “U2 snRNP is required for the expression of 3´end of genes”, PLOS ONE.
2012 - 2012 Revisor ad hoc do artigo “Identificação de alvos terapêuticos e de diagnóstico através do sistema dois híbrido: a biologia molecular ao serviço da medicina”, Acta Médica Portuguesa.

Comissão de avaliação

Descrição da atividade
Tipo de assessoria
Instituição / Organização Entidade financiadora
2023/03 - Atual Júri no concurso IMM CT-19/2023 com vista à contratação de um Investigador Pós-doutoral, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “RNA mis-splicing in Hypertrophic Cardiomyopathy: opportunties for dignosis and therapy” (SpliceHCM, HR20-00322), financiado pela Fundação “La Caixa”.
Avaliador
2021/12 - Atual Júri no concurso IMM CT-92/2021 com vista à contratação de um Investigador Pós-doutoral, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “Cardiac Splicing as a Therapeutic Target” (CASTT, Research Grantº21CVD02), financiado pela Fundação para a Investigação Cardiovascular “Le Ducq”.
Avaliador
2021/04 - Atual Júri no concurso IMM CT-40/2021 com vista à contratação de um técnico de laboratório, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “RNA mis-splicing in Hypertrophic Cardiomyopathy: opportunties for dignosis and therapy” (SpliceHCM, HR20-00322), financiado pela Fundação “La Caixa.
Avaliador
2020/10 - Atual Júri no concurso IMM CT-53/2020 com vista à contratação de um técnico de laboratório, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “RNA mis-splicing in Hypertrophic Cardiomyopathy: opportunties for dignosis and therapy” (SpliceHCM, HR20-00322), financiado pela Fundação “La Caixa”.
Avaliador
2020/10 - Atual Júri no concurso IMM CT-56/2020 com vista à contratação de um Investigador Pós-doutoral, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “RNA mis-splicing in Hypertrophic Cardiomyopathy: opportunties for dignosis and therapy” (SpliceHCM, HR20-00322), financiado pela Fundação “La Caixa”.
Avaliador
2020/09 - Atual Júri no concurso IMM CT-51/2020 com vista à contratação de um técnico de laboratório, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto UIDB/50005/2020, financiado pela FCT/MCTES através de fundos nacionais (PIDDAC).
Avaliador
2020/09 - Atual Júri no concurso IMM CT-52/2020 com vista à contratação de um técnico de laboratório, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do projeto “RNA mis-splicing in Hypertrophic Cardiomyopathy: opportunties for dignosis and therapy” (SpliceHCM, HR20-00322), financiado pela Fundação “La Caixa”.
Avaliador
2020/05 - Atual Júri no concurso IMM CT-19/2020 com vista à contratação de um técnico de laboratório, no Instituto de Medicina Molecular João Lobo Antunes (iMM-JLA), no âmbito do Projeto de Investigação Científica e Desenvolvimento Tecnológico (IC&DT) Programa de Actividades Conjuntas – projecto n.º 016394 Precise (Promoção do avanço significativo do conhecimento na área de medicina de precisão e sua translação para benefício da sociedade) - Sistema de Apoio à Investigação Científica e Tecnológica (SAICT), financiado pelos Fundos Europeus Estruturais e de Investime
Avaliador

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2024/02 - Atual Course Coordinator of "Eukaryotic Genetics", Bachelor's in Biology, Faculty of Sciences, University of Lisbon. Biologia (Licenciatura) Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2009 - Atual Assistant Professor of the course Module I.I – Molecular and Cellular Biology in the Integrated Master’s in Medicine at the Faculty of Medicine, University of Lisbon. Medicina (Mestrado integrado) Universidade de Lisboa Faculdade de Medicina, Portugal
2009 - Atual Assistant Professor of the course Common Core V a) – Oncobiology, in the Integrated Master’s in Medicine at the Faculty of Medicine, University of Lisbon. Oncobiologia (Mestrado integrado) Universidade de Lisboa Faculdade de Medicina, Portugal
2019 - 2019 Martins S. “Manipulação e diferenciação de células estaminais em cardiomiócitos”. Guest Lecturer in the “Stem cell Master Course”, Master Programme in Evolutionary and Developmental Biology, Faculty of Sciences of University of Lisbon, Lisbon, Portugal, May 8, 2019. (Mestrado)
2014 - 2014 Instructor in the Practical Workshop “Stem Cell Biology”, 5th AIMS Meeting, 7th-9th March 2014, FML, UL. (Outros)
2008 - 2009 Course Coordinator of "Cellular Biology", Bachelor's in Biology, ULHT, Lisbon, Portugal. Biologia (Licenciatura) Universidade Lusófona de Humanidades e Tecnologias, Portugal
2008 - 2008 “Live-cell imaging of RNA biogenesis”. Guest lecture in GAABA PhD. Program, Institute of Molecular Medicine, Lisbon, Portugal. (Curso de doutoramento (conclusão de unidades curriculares))
2006 - 2008 Course Coordinator of " Nuclear Architecture", Master in Developmental Biology, ULHT, Lisbon, Portugal. Master in Developmental Biology (Mestrado) Universidade Lusófona de Humanidades e Tecnologias, Portugal
2006 - 2008 Course Coordinator of "Mammals embryonic development", Master in Developmental Biology, ULHT, Lisbon, Portugal. Master in Developmental Biology (Mestrado) Universidade Lusófona de Humanidades e Tecnologias, Portugal
2007 - 2007 “Quantitative RT-PCR: Validation and determination of the relative abundance of the predicted alternatively spliced isoforms of U2AF35 and U2AF35-related proteins in several human tissues, namely in brain”. Guest lecture in GAABA PhD. Program, Institute of Molecular Medicine, Lisbon, Portugal. (Curso de doutoramento (conclusão de unidades curriculares))
2006 - 2006 “dsRNA interference: RNAi-mediated knockdown of the Ski-interacting protein (SKIP) affects splicing of cell cycle genes”. Guest lecture in GAABA PhD. Program, Institute of Molecular Medicine, Lisbon, Portugal. (Curso de doutoramento (conclusão de unidades curriculares))
2005 - 2005 "dsRNA interference: interfering with splicing factors”. Guest lecture in GAABA PhD. Program, Institute of Molecular Medicine, Lisbon, Portugal. (Curso de doutoramento (conclusão de unidades curriculares))

Outro júri / avaliação

Descrição da atividade Instituição / Organização
2014/11/18 - Atual “Luminal-type Breast Cancer: prognostic value of RANK- positive lymphatic nodes of RANK+ Luminal breast cancer In vitro approach”. Parecer para Admissão de Provas de Sara Santos Henriques no Mestrado em Oncobiologia, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

Tutoria

Tópico Nome do aluno
2015 - 2016 Tutor of the laboratory training of Maria Inês Ribeiro, Mafalda Jorge, Marta Assunção and Raquel Nunes, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Maria Inês Ribeiro, Mafalda Jorge, Marta Assunção and Raquel Nunes
2014 - 2015 Tutor of the laboratory training of Beatriz Draiblate, Duarte Vinha and Sara Penas, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Beatriz Draiblate, Duarte Vinha and Sara Penas
2013 - 2014 Tutor of the laboratory training of Catarina Fernandes, Hugo Ferreira and Sara Cabete, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Catarina Fernandes, Hugo Ferreira and Sara Cabete
2012 - 2013 Tutor of the laboratory training of Luís Rei, Joana Patrícia Alves Cabrita and João Pedro Bretes Menezes Caria, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Luís Rei, Joana Patrícia Alves Cabrita and João Pedro Bretes Menezes Caria
2011 - 2012 Tutor of the laboratory training of Mariana Guimarães Adams e Mariana Lopes Pinto, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Mariana Guimarães Adams e Mariana Lopes Pinto
2010 - 2011 Tutor of the laboratory training of Inês Figueiredo, Tomás McGuire e António Temudo Barata, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Inês Figueiredo, Tomás McGuire e António Temudo Barata
2009 - 2010 Tutor of the laboratory training of Ângela Abreu, Liliana Sousa Nanji e Gonçalo Fernandes, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Ângela Abreu, Liliana Sousa Nanji e Gonçalo Fernandes
2006 - 2007 Laboratorial tutor of Joana Borlido, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Portugal. Joana Borlido
Distinções

Prémio

2024 Professor of the Semester, 3rd Year, Molecular Biology and Genetics Track. Awarded by the Student Association of the Biology Program, Faculty of Sciences, University of Lisbon.
2015 "Insertion Polymorphism at the Alu PV92 Locus”, Madalena Carvalho & Rita Marques Pinto, 11th-grade students. Award-winning project, 23rd Young Scientists Competition, Lisbon, Portugal. Co-Tutors: Sandra Martins & Teresa Carvalho.