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Degree in Biology from FCUP, PhD in Human Biology from FMUP, carried out post-doctoral projects at the Babraham Institute, Cambridge, UK and at ICVS, University of Minho, until becoming assistant researcher at FMUP since 2016. Author/Co-author of scientific articles in prestigious journals such as The Lancet, Nature, Nature Communications, Molecular Psychiatry and New England Journal of Medicine, which collected more than 2600 citations. Internships in international laboratories such as University of Pittsburgh (Pensylvannia, USA), Institute of Molecular Genetics of Montpellier (France), University of Saarlandes (Germany), Center René Huguenin (INSERM), Wellcome Trust Genome Campus (UK), and Blizard Institute (UK). Awarded with the L’Oreal/FCT Medal of Honor for Women in Science in 2010, the Promega Young Geneticist Award from the Genetics Society UK in 2007, the LabMed 1st Mention of Honor in 2003 and the SPGH Young Scientist Award in 2003. Research on epigenetic regulation in various cellular models (human germ cells, embryonic stem cells, neuronal precursor cells and glutamatergic neurons) and clinical models (male and female infertility, pregnancy loss and intrauterine growth restriction) as well as animal models (conditional KO of the enzyme Tet3) Other areas of interest include the use of induced pluripotent cells in the development of innovative therapies in the area of neurogenetic diseases and pharmacogenetics.
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Identification

Personal identification

Full name
Cristina Joana Moreira Marques

Citation names

  • Marques, C. Joana
  • Marques, CJ

Author identifiers

Ciência ID
B610-1521-D950
ORCID iD
0000-0002-5658-3773
AuthenticusID
R-000-JPE
Scopus Author Id
35083959000

Email addresses

  • cmarques@med.up.pt (Professional)
  • cjoanammarques@sapo.pt (Personal)

Telephones

Telephone
  • 220427615 Ext.: 33715 (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Reproductive Biology
  • Natural sciences - Biological Sciences - Genetics and Heredity

Languages

Language Speaking Reading Writing Listening Peer-review
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Portuguese (Mother tongue)
French Elementary (A2) Intermediate (B1) Elementary (A2) Elementary (A2)
Education
Degree Classification
2013/05/31
Concluded
 Epigenetic regulation of pluripotency (Pós-doutoramento)
Babraham Institute, United Kingdom

Universidade do Porto Faculdade de Medicina, Portugal
2009/01/14
Concluded
 Biologia Humana (Doutoramento)
Major in Sem especialidade
Universidade do Porto Faculdade de Medicina, Portugal
"Establishment of genomic imprinting in human spermatogenesis." (THESIS/DISSERTATION)
2001/10/10
Concluded
 Biologia (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Assisted Reproduction Techniques" (THESIS/DISSERTATION)
Affiliation

Science

Category
Host institution 		Employer
2016/08/01 - Current Researcher (Research) Universidade do Porto Faculdade de Medicina, Portugal
Universidade do Porto Faculdade de Medicina, Portugal
2013/06/01 - 2016/07/31 Researcher (Research) Universidade do Minho Escola de Medicina, Portugal
Universidade do Minho Escola de Medicina, Portugal
2011/03/01 - 2013/05/31 Postdoc (Research) Universidade do Porto Faculdade de Medicina, Portugal
Universidade do Porto Faculdade de Medicina, Portugal
(...)
2009/02/01 - 2011/02/28 Postdoc (Research) Babraham Institute, United Kingdom
Babraham Institute, United Kingdom
2005 - 2008 Research Trainee (Research) Universidade do Porto Faculdade de Medicina, Portugal
2002/10 - 2005/01 Research Trainee (Research) Universidade do Porto Faculdade de Medicina, Portugal
Projects

Grant

Designation Funders
2023/01/01 - Current The effects of cryopreservation on the epigenome of human sperm
2022.09829.PTDC
Principal investigator
2022/01 - Current Increasing Vitamin C uptake in microglia for halting Alzheimer's disease
FCT-EXPL/MED-NEU/0588/2021
Researcher
Fundação para a Ciência e a Tecnologia
2022/01 - Current The role of (epi)genetic mechanisms in oocyte maturation and idiopathic pregnancy losses - new insights into human reproduction .
FCT-EXPL/MED-GEN/1261/2021
Researcher
Fundação para a Ciência e a Tecnologia
Ongoing
2018/09/29 - 2021/09/28 Awakening of the oocyte: transcriptional reactivation after prolonged quiescence.
PTDC/BIA-BID/28441/2017
Researcher
Universidade do Algarve, Portugal

Fundação Calouste Gulbenkian, Portugal

Universidade do Porto, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2019 - 2020/02/29 Epigenetic and transcriptional analysis of TSC2 in leukocyte DNA from tuberous sclerosis patients
TSA – BSR-04-18
Principal investigator
Tuberous Sclerosis Alliance
Concluded
2014 - 2016 Functional analysis of TET enzymes during neurogenesis
Small Collaborative Grant
Researcher
Epigenesys
Concluded
2012/03 - 2015/08 Functional testing of epigenetic reprogramming factors associated with pluripotency
grant.Provided by PTCRIS: 121276
PTDC/BIA-BCM/121276/2010
Principal investigator
Universidade do Minho, Portugal

Universidade do Porto Unidade de Investigação e Desenvolvimento Cardiovascular, Portugal
Stichting Weten

Fundação para a Ciência e a Tecnologia
Concluded
2007/01 - 2008/09 Genomic Imprinting in human spermatogenesis
grant.Provided by PTCRIS: 82228
 Fundação para a Ciência e a Tecnologia
2005/10 - 2007/12 Genomic Imprinting in human spermatogenesis
grant.Provided by PTCRIS: 60555
POCI/SAU-MMO/60555/2004
Researcher
Universidade do Porto Faculdade de Medicina, Portugal
 Stichting Weten

Fundação para a Ciência e a Tecnologia
Concluded
2002 - 2005 Spermatogenesis in vitro – Characterization of surface receptors and gene expression during proliferation, meiosis and differentiation phases
FCT – POCTI/BME/43462/2001
Research Fellow
Fundação para a Ciência e a Tecnologia
Concluded

Contract

Designation Funders
2019 - Current Epigenetic analysis of human spermatogenesis – unravelling new causes of male infertility
CEECIND/00371/2017
Researcher
Fundação para a Ciência e a Tecnologia
2023/01/01 - 2024/06/30 Efeitos da criopreservação no epigenoma dos espermatozóides humanos.
2022.09829.PTDC
10.54499/2022.09829.PTDC
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2013 - 2018 Functional analysis of epigenetic regulators of pluripotency and neural development
IF00047/2012
Researcher
Fundação para a Ciência e a Tecnologia
2011/01/01 - 2013/12/31 Projecto Estratégico - UI 51 - 2011-2012
PEst-C/SAU/UI0051/2011
Universidade do Porto Unidade de Investigação e Desenvolvimento Cardiovascular, Portugal

Hospital de São João, Portugal

Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Book chapter
  1. Marques, Cristina Joana; Sousa, Mário. "Imprinted gene anomalies in sperm". In Paternal Influences on Human Reproductive Success, 27-37. Cambridge University Press, 2013.
    10.1017/cbo9781139169349.005
  2. Marques, Cristina Joana; Barros, Alberto; Sousa, Mário. "Sperm Epigenetic Profile". In Sperm Chromatin, 243-257. Springer New York, 2011.
    10.1007/978-1-4419-6857-9_17
  3. Marques, CJ; Sousa, M. "Imprinted gene anomalies in sperm". 2010.
    10.1017/9781139169349.005
  4. Marques, CJ; Barros, Alberto; Sousa, M.. "Imprinting in sperm of men with abnormal semen parameters". In Course Book of ESHRE. 2008.
    Published
Conference abstract
  1. Caniçais, Carla; Mariana Cunha; Alice Pinto; Barros, Alberto; Joana Guimarães; Fatima Santos; Dória, Sofia; Marques, C. Joana. "THE HUMAN TRANSCRIPTOMIC LANDSCAPE OF OOCYTES AND CUMULUS CELLS DURING OOCYTE MATURATION". 2022.
  2. Vaz, D; Vasconcelos, S; Canicais, C; Ramalho, C; Fernandes, S; Marques, J; Doria, S. "SKEWED X-CHROMOSOME INACTIVATION IN RECURRENT PREGNANCY LOSS". 2022.
  3. Vasconcelos, S; Pinto, J; Ramalho, C; Lopes, SMCD; Marques, J; Doria, S. "EXPRESSION ANALYSIS OF EPIGENETIC REGULATORS IN HUMAN PLACENTAS FROM IDIOPATHIC PREGNANCY LOSSES". 2022.
  4. Maia, M; Almeida, C; Cunha, M; Goncalves, A; Silva Soares, S; Severo, M; Marques, CJ; et al. "SEMEN PARAMETERS, DNA FRAGMENTATION AND SPERM ANEUPLOIDY EVALUATION IN THE ETIOLOGY OF MALE INFERTILITY". 2021.
  5. Vasconcelos, S; Capela, L; Marques, CJ; Fernandes, S; Grangeia, A; Leao, M. "EPIGENETIC AND TRANSCRIPTIONAL ANALYSIS OF TSC2 IN TUBEROUS SCLEROSIS PATIENTS". 2021.
  6. Joana Marques, CJ; Carvalho, F; Sousa, M; Barros, A. "Imprinting errors in spermatogenic cells of infertile patients". 2019.
  7. Vasconcelos, S; Ramalho, C; Marques, J; Doria, S. "Epigenetic modifications could contribute for second trimester pregnancy spontaneous losses". 2019.
  8. Grangeia, A; Joana Marques, CJ; Fernandes, S; Leao, M. "A case of germ-line mosaicism in Tuberous Sclerosis". 2019.
  9. Carvalho, B.; Marques, CJ; Barceló, J.; Almeida, AC; Fernandes, S.; Witchel, SF; Sousa, M.; et al. "CYP21A2 gene mutations in Portuguese CAH patients". Paper presented in Eur J Hum Genet, 2009.
  10. Marques, CJ; Costa, P; Vaz, B; Sousa, S; Carvalho, F; Fernandes, S; Silva, J; Barros, A; Sousa, M. "Establishment of genomic imprinting in human spermatogenesis". 2008.
  11. Francisco, T.; Marques, CJ; Sousa, S.; Carvalho, F.; Fernandes, S.; Silva, J.; Barros, Alberto; Sousa, M.. "Defective genomic imprinting in azoospermia". Paper presented in Hum. Reprod, 2008.
  12. Marques, CJ; Carvalho, F.; Fernandes, S.; Silva, J.; Barros, Alberto; Sousa, M.. "Methylation imprinting marks and expression analysis of DNA methyltransferases in human spermatogenesis". Paper presented in Hum. Reprod, 2008.
  13. Carvalho, F; Marques, CJ; Costa, P; Vaz, B; Fernandes, S; Arnaud, P; Barros, A; Sousa, M. "Analysis of H19 and MEST/PEG1 and Line 1 transposon methylation patterns in oligozoospermia". 2007.
  14. Marques, CJ; Sousa, S; Fernandes, S; Carvalho, F; Silva, J; Sousa, M; Barros, A. "Epigenetic status of imprinted genes in human testicular spermatozoa". 2006.
  15. Marques, CJ; Carvalho, F.; Sousa, M.; Barros, Alberto. "Genomic imprinting defects in sperm from oligozoospermic patients". Paper presented in Rev IberoAm Fertil Reprod Hum 21, 2004.
  16. Costa, P.; Fernandes, S.; Ferrás, C.; Carvalho, F.; Marques, CJ; Alves, C; Almeida, C.; et al. "DAZ gene copy deletion analysis in azoospermic patients with hypospermatogenesis and evolutive oligozoospermia". Paper presented in Rev IberoAm Fertil Reprod Hum 21, 2004.
  17. Carvalho, F.; Ferrás, C.; Marques, CJ; Fernandes, S.; Silva, J.; Sousa, M.; Barros, Alberto. "Portuguese population screening for Y-chromosome microdeletions in 622 infertile male patients and in 114 fertile males". Paper presented in Hum. Reprod, 2002.
  18. Marques, CJ; Carvalho, F.; Sousa, M.; Barros, Alberto. "Quantitative study of the paternal methylation imprint in human sperm H19 and MEST/PEG1 genes". Paper presented in Hum. Reprod, 2002.
  19. Ferras, C.; Carvalho, F.; Fernandes, S.; Marques, CJ; Silva, J.; Sousa, M.; Barros, Alberto. "Complete maturation arrest cases do not relate to microdeletions in the AZFc region". Paper presented in Hum. Reprod, 2002.
Conference paper
  1. Marques, CJ; White, C; Fernandes, S; Carvalho, F; Barros, A; Witchel, SF; Pignatelli, D. "CYP21 gene mutations in Portuguese CAH patients". 2004.
Conference poster
  1. Marques, CJ; Costa, P.; Vaz, B.; Carvalho, F.; Fernandes, S.; Barros, Alberto; Sousa, M.. "Abnormal methylation of imprinted genes in human sperm". Paper presented in XI Congresso Nacional de Andrologia, Andrologia no Futuro, 2008.
  2. Marques, CJ; Pinho, MJ; Marques, P.; Carvalho, F.; Barros, Alberto; Sousa, M.. "Imprinting marks and DNA methyltransferases dynamics in human adult spermatogenesis". Paper presented in Epigenetics Symposium, 2008.
  3. Marques, CJ; Carvalho, F.; Silva, J.; Barros, Alberto; Sousa, M.. "Imprinting marks in human adult spermatogenesis". Paper presented in EMBO Conference on Chromatin and Epigenetics, 2007.
  4. Marques, CJ; Carvalho, F.; Silva, J.; Sousa, M.; Barros, Alberto. "DNA methyltransferase expression in human spermatogenesis". Paper presented in 11ª Reunião da Sociedade Portuguesa de Genética Humana, 2007.
  5. Marques, CJ; Costa, P.; Vaz, B.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "Extensive study of imprinting patterns in human spermatozoa". Paper presented in Cold Spring Harbor Meeting on Germ Cells, 2006.
  6. Marques, CJ; Fernandes, S.; Carvalho, F.; Silva, J.; Sousa, M.; Barros, Alberto. "Study of genomic imprinting in normal and impaired spermatogenesis". Paper presented in International Meeting on Genomic Imprinting, Development and Disease, 2005.
  7. Marques, CJ; Vaz, B.; Fernandes, S.; Carvalho, F.; Sousa, S.; Silva, J.; Sousa, M.; Barros, A.. "Estudo do imprinting genómico em espermatozóides de pacientes com oligozoospermia e azoospermia". Paper presented in IX Reunião Anual da Sociedade Portuguesa de Genética Humana, 2005.
  8. Costa, P.; Fernandes, S.; Ferrás, C.; Carvalho, F.; Marques, CJ; Alves, C.; Almeida, C.; et al. "Estudo das cópias DAZ nos pacientes com hipoespermatogénese e oligozoospermia evolutiva". Paper presented in II Congresso da Sociedade Portuguesa de Medicina da Reprodução, 2004.
  9. Marques, CJ; Vaz, B.; Fernandes, S.; Carvalho, F.; Sousa, S.; Silva, J.; Ferrás, L.; Sousa, M.; Barros, Alberto. "Study of H19 and MEST imprinted genes in human ejaculated and testicular sperm from oligozoospermic and azoospermic patients". Paper presented in Keystone Symposium, 2004.
  10. Marques, CJ; Carvalho, F.; Sousa, M.; Barros, A.. "Altered genomic imprinting in disruptive spermatogenesis". Paper presented in Gordon Research Conferences, 2003.
  11. Ferrás, C.; Marques, CJ; Fernandes, S.; Carvalho, F.; Silva, J.; Sousa, M.; Barros, Alberto. "DAZ1/DAZ2 gene deletions in patients with maturation arrest". Paper presented in European Association of Andrology (EAA) International Symposium, 2003.
  12. Fernandes, S.; Ferrás, C.; Sousa, M.; Carvalho, F.; Marques, CJ; Silva, J.; Barros, Alberto. "DAZ1/DAZ2 gene deletions associate with germ cell nucleomalacia and flagellum degeneration". Paper presented in European Association of Andrology (EAA) International Symposium, 2003.
  13. Barros, Alberto; Alves, C.; Fernandes, MS; Pinho, MJ; Silva, J.; Cremades, N.; Ferrás, C.; et al. "Potencial de desenvolvimento in vitro das células estaminais adultas do epitélio germinal masculino normal". Paper presented in XXII Jornadas de Estudos da Reprodução, 2003.
  14. Carvalho, F.; Neves, R.; Ferreira, S.; Fernandes, S.; Ferrás, C.; Marques, CJ; Grangeia, A.; et al. "Expressão de genes da apoptose na linha germinal masculina". Paper presented in XXII Jornadas de Estudos da Reprodução, 2003.
  15. Ferrás, C.; Fernandes, S.; Sousa, M.; Carvalho, F.; Marques, CJ; Alves, C.; Grangeia, A.; et al. "As delecções DAZ1/DAZ2 estão associadas ao fenótipo testicular de nucleomalacia e degeneração flagelar". Paper presented in VII Reunião da Sociedade Portuguesa de Genética Humana, 2003.
  16. Pinho, MJ; Sousa, M.; Alves, C.; Ferrás, C.; Fernandes, S.; Carvalho, F.; Marques, CJ; et al. "Caracterização molecular e análise meiótica de uma nova translocação Y;1 num paciente com azoospermia secretora". Paper presented in VII Reunião da Sociedade Portuguesa de Genética Humana, 2003.
  17. Sousa, M.; Silva, J.; Alves, C.; Fernandes, MS; Carvalho, F.; Ferras, C.; Marques, CJ; et al. "Tratamento da infertilidade masculina na paragem da maturação. Potencial de desenvolvimento das células germinais masculinas em cocultura com células de Sertoli.". Paper presented in XXI Jornadas Internacionais de Estudos da Reprodução, 2002.
  18. Grangeia, A.; Carvalho, F.; Sousa, M.; Ferrás, C.; Marques, CJ; Fernandes, S.; Alves, C.; Silva, J.; Barros, Alberto. "Estudo das mutações do gene da fibrose cística em homens inférteis com agenesia congénita dos canais deferentes.". Paper presented in 6ª Reunião da Sociedade Portuguesa de Genética Humana, 2002.
  19. Ferras, C.; Carvalho, F.; Marques, CJ; Fernandes, S.; Silva, J.; Sousa, M.; Barros, Alberto. "Estudo das microdelecções em Y-q11.2-AZF na infertilidade masculina". Paper presented in 6ª Reunião da Sociedade Portuguesa de Genética Humana, 2002.
Journal article
  1. Sara Vasconcelos; Carla Caniçais; Susana M. Chuva de Sousa Lopes; C. Joana Marques; Sofia Dória. "The role of DNA hydroxymethylation and TET enzymes in placental development and pregnancy outcome". Clinical Epigenetics 15 1 (2023): http://dx.doi.org/10.1186/s13148-023-01483-z.
    10.1186/s13148-023-01483-z
  2. Cláudia Antunes; Jorge D. Da Silva; Sónia Guerra-Gomes; Nuno D. Alves; Eduardo Loureiro-Campos; Luísa Pinto; C. Joana Marques. "Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments". Molecular Neurobiology (2022): https://doi.org/10.1007/s12035-022-02883-7.
    10.1007/s12035-022-02883-7
  3. "Variant PNLDC1, Defective piRNA Processing, and Azoospermia". New England Journal of Medicine (2021): http://dx.doi.org/10.1056/nejmoa2028973.
    10.1056/nejmoa2028973
  4. Caniçais, Carla; Vasconcelos, Sara; Ramalho, Carla; Marques, C. Joana; Dória, Sofia. "Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction". Journal of Assisted Reproduction and Genetics (2021): http://dx.doi.org/10.1007/s10815-020-02047-3.
    Published • 10.1007/s10815-020-02047-3
  5. Antunes, C.; Da Silva, J.D.; Guerra-Gomes, S.; Alves, N.D.; Ferreira, F.; Loureiro-Campos, E.; Branco, M.R.; et al. "Reduced hippocampal ten-eleven translocation 3 (Tet3) protein expression in Tet3 conditional knockout mice". Molecular Psychiatry 26 5 (2021): 1425-1425. http://www.scopus.com/inward/record.url?eid=2-s2.0-85106955371&partnerID=MN8TOARS.
    10.1038/s41380-021-01067-4
  6. Joana Marques; Filipa Carvalho; Alberto Barros; Mário Sousa. "Epimutations in human sperm from patients with impaired spermatogenesis". Clinical Epigenetics (2020): https://doi.org/10.1186/s13148-020-00919-0.
    Published • 10.1186/s13148-020-00919-0
  7. Marques, C. Joana. "TET3 controls the expression of the H3K27me3 demethylase Kdm6b during neural commitment". Cellular and Molecular Life Sciences (2020): http://dx.doi.org/10.1007/s00018-020-03541-8.
    10.1007/s00018-020-03541-8
  8. Carvalho, Berta; Marques, C.Joana; Santos-Silva, Rita; Fontoura, Manuel; Carvalho, Davide; Carvalho, Filipa. "Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene". Experimental and Clinical Endocrinology & Diabetes (2020): http://dx.doi.org/10.1055/a-1108-1419.
    10.1055/a-1108-1419
  9. Antunes, Cláudia; Da Silva, Jorge D.; Guerra-Gomes, Sónia; Alves, Nuno D.; Ferreira, Fábio; Loureiro-Campos, Eduardo; Branco, Miguel R.; et al. "Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice". Molecular Psychiatry (2020): http://dx.doi.org/10.1038/s41380-020-0695-7.
    Accepted • 10.1038/s41380-020-0695-7
  10. Mafalda Santiago; Claudia Antunes; Marta Guedes; Michelina Iacovino; Michael Kyba; Wolf Reik; Nuno Sousa; et al. "Tet3 regulates cellular identity and DNA methylation in neural progenitor cells". Cellular and Molecular Life Sciences (2019): https://doi.org/10.1007/s00018-019-03335-7.
    10.1007/s00018-019-03335-7
  11. Antunes, Cláudia; Sousa, Nuno; Pinto, Luisa; Marques, C. Joana. "TET enzymes in neurophysiology and brain function". Neuroscience & Biobehavioral Reviews 102 (2019): 337-344. http://dx.doi.org/10.1016/j.neubiorev.2019.05.006.
    10.1016/j.neubiorev.2019.05.006
  12. Vasconcelos, Sara; Ramalho, Carla; Marques, C. Joana; Doria, Sofia. "Altered expression of epigenetic regulators and imprinted genes in human placenta and fetal tissues from second trimester spontaneous pregnancy losses". Epigenetics 14 12 (2019): 1234-1244. http://dx.doi.org/10.1080/15592294.2019.1634988.
    10.1080/15592294.2019.1634988
  13. Daniela Barros Silva; C. Joana Marques; Rui Henrique; Carmen Jeronimo. "Profiling DNA Methylation Based on Next-Generation Sequencing Approaches: New Insights and Clinical Applications". Genes (2018): http://www.mdpi.com/2073-4425/9/9/429.
    10.3390/genes9090429
  14. P. I. Marques; S. Fernandes; F. Carvalho; A. Barros; M. Sousa; C. J. Marques. "DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients". Andrology 5 3 (2017): 451-459. https://doi.org/10.1111/andr.12329.
    10.1111/andr.12329
  15. Santiago M; Antunes C; Guedes M; Sousa N; Joana Marques C. "TET enzymes and DNA Hydroxymethylation in Neural Development and Function - How critical are they?". (2014): http://europepmc.org/abstract/med/25200796.
    10.1016/j.ygeno.2014.08.018
  16. Pinho, M.J.; Marques, C.J.; Carvalho, F.; Punzel, M.; Sousa, M.; Barros, A.. "Genetic regulation on ex vivo differentiated natural killer cells from human umbilical cord blood CD34+ cells". Journal of Receptors and Signal Transduction 32 5 (2012): 238-249. http://www.scopus.com/inward/record.url?eid=2-s2.0-84866626199&partnerID=MN8TOARS.
    10.3109/10799893.2012.700716
  17. Carvalho, B.; Pereira, M.; Marques, C.J.; Carvalho, D.; Leão, M.; Oliveira, J.P.; Barros, A.; Carvalho, F.. "Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients". Experimental and Clinical Endocrinology and Diabetes 120 9 (2012): 535-539. http://www.scopus.com/inward/record.url?eid=2-s2.0-84867534934&partnerID=MN8TOARS.
    10.1055/s-0032-1323805
  18. Carey, N.; Marques, C.J.; Reik, W.. "DNA demethylases: A new epigenetic frontier in drug discovery". Drug Discovery Today 16 15-16 (2011): 683-690. http://www.scopus.com/inward/record.url?eid=2-s2.0-80051665371&partnerID=MN8TOARS.
    10.1016/j.drudis.2011.05.004
  19. Joana Marques, C.; Pinho, M.J.; Carvalho, F.; Bièche, I.; Barros, A.; Sousa, M.. "DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages". Epigenetics 6 11 (2011): 1354-1361. http://www.scopus.com/inward/record.url?eid=2-s2.0-81055154922&partnerID=MN8TOARS.
    10.4161/epi.6.11.17993
  20. Wossidlo, M.; Nakamura, T.; Lepikhov, K.; Marques, C.J.; Zakhartchenko, V.; Boiani, M.; Arand, J.; et al. "5-Hydroxymethylcytosine in the mammalian zygote is linked with epigenetic reprogramming". Nature Communications 2 1 (2011): http://www.scopus.com/inward/record.url?eid=2-s2.0-79952713567&partnerID=MN8TOARS.
    10.1038/ncomms1240
  21. Ficz, G.; Branco, M.R.; Seisenberger, S.; Santos, F.; Krueger, F.; Hore, T.A.; Marques, C.J.; Andrews, S.; Reik, W.. "Dynamic regulation of 5-hydroxymethylcytosine in mouse ES cells and during differentiation". Nature 473 7347 (2011): 398-404. http://www.scopus.com/inward/record.url?eid=2-s2.0-79956323623&partnerID=MN8TOARS.
    10.1038/nature10008
  22. Marques, C.J.; Francisco, T.; Sousa, S.; Carvalho, F.; Barros, A.; Sousa, M.. "Methylation defects of imprinted genes in human testicular spermatozoa". Fertility and Sterility 94 2 (2010): 585-594. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953712614&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2009.02.051
  23. Marques, C.J.; Pignatelli, D.; Carvalho, B.; Barceló, J.; Almeida, A.C.; Fernandes, S.; Witchel, S.F.; et al. "Mutational characterization of steroid 21-hydroxylase gene in portuguese patients with congenital adrenal hyperplasia". Experimental and Clinical Endocrinology and Diabetes 118 8 (2010): 505-512. http://www.scopus.com/inward/record.url?eid=2-s2.0-77956965063&partnerID=MN8TOARS.
    10.1055/s-0029-1237363
  24. Carvalho, B.; Marques, C.J.; Carvalho, D.; Barros, A.; Carvalho, F.. "Novel human pathological mutations. Gene symbol: CYP21A2. Disease: adrenal hyperplasia.". Human genetics 127 4 (2010): 482-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-79955699146&partnerID=MN8TOARS.
  25. Carvalho, B.; Marques, C.J.; Carvalho, D.; Barros, A.; Carvalho, F.. "Disease: Adrenal hyperplasia". Human Genetics 127 4 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-84863671880&partnerID=MN8TOARS.
  26. Marques, C.J.; Costa, P.; Vaz, B.; Carvalho, F.; Fernandes, S.; Barros, A.; Sousa, M.. "Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia". Molecular Human Reproduction 14 2 (2008): 67-73. http://www.scopus.com/inward/record.url?eid=2-s2.0-40049100483&partnerID=MN8TOARS.
    10.1093/molehr/gam093
  27. Marques, C.J.; Vaz, B.; Costa, P.; Sousa, S.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "Heritable genomic imprinting defects in infertile patients with oligozoospermia and azoospermia | Alteração transmissível do imprinting genómico em pacientes inférteis por oligozoospermia e azoospermia". Arquivos de Medicina 21 2 (2007): http://www.scopus.com/inward/record.url?eid=2-s2.0-36348952655&partnerID=MN8TOARS.
  28. Marques, C.J.; Fernandes, S.; Carvalho, F.; Silva, J.; Sousa, M.; Barros, A.; Marques, CJ; et al. "Study of genomic imprinting in spermatozoids from patients with oligozoospermia | Estudo do imprinting genómico em espermatozóides de pacientes com oligozoospermia". Revista Internacional de Andrologia 3 3 (2005): 101-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-77949838778&partnerID=MN8TOARS.
    10.1016/S1698-031X(05)73255-6
  29. Marques, C.J.; Carvalho, F.; Sousa, M.; Barros, A.. "Genomic imprinting in disruptive spermatogenesis". Lancet 363 9422 (2004): 1700-1702. http://www.scopus.com/inward/record.url?eid=2-s2.0-2442686408&partnerID=MN8TOARS.
    10.1016/S0140-6736(04)16256-9
  30. Ferrás, C.; Fernandes, S.; Marques, C.J.; Carvalho, F.; Alves, C.; Silva, J.; Sousa, M.. "AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome". Molecular Human Reproduction 10 10 (2004): 755-761. http://www.scopus.com/inward/record.url?eid=2-s2.0-5144233701&partnerID=MN8TOARS.
    10.1093/molehr/gah104
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/03/23 Epigenetic alterations in human infertility. XV Jornadas de Genética e Biotecnologia | V Jornadas Ibéricas de Genética y Biotecnología
UTAD (Vila Real, Portugal)
2018/11/16 Imprinting errors in spermatogenic cells of infertile patients 22th Meeting of the Portuguese Society for Human Genetics
Portuguese Society for Human Genetics (Porto, Portugal)
2018/02/23 Epigenetic regulation of neural differentiation and brain function. Seminários IPO-Porto
2017/03/08 Epigenetic regulation of pluripotency and neural differentiation. III Semana Bioengenharia, Instituto Superior Técnico (IST)
2014/07/28 Imprinting errors in human sperm – implications in ART. FMUP Postgraduate course Epigenomics and Metabolic Diseases
2014/05/10 Epigenetics of the male gamete ALPHA2014, 10th Biennal Conference
(Turkey)
2014/05/02 Genomic imprinting in human spermatogenesis Portuguese Society of Reproductive Medicine
2007/11/12 Genomic imprinting and male infertility
2004/06/18 Genetic mutations in Congenital Adrenal Hyperplasia

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2022 - Current Epigenetic regulation through DNA methylation.
Supervisor
2021 - Current The effects of cryopreservation on the epigenome of human sperm.
Supervisor
2019 - Current Epigenetic reprogramming in human oocytes and cumulus cells. Dynamics of 5-mmethylcytosine and 5-hydroxymethylcytosine during germ cell reprogramming.
Supervisor
Universidade do Porto Faculdade de Medicina, Portugal
2019 - Current Transcriptome and epigenetic analysis of placental and fetal samples from idiopathic pregnancy losses.
Co-supervisor
Universidade do Porto Faculdade de Medicina, Portugal
2017 - Current Understanding the basis of semen hyperviscosity and asthenozoospermia phenotypes – a systems biology approach.
Co-supervisor
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2020 - 2022 Analysis of epigenetic regulators in sperm cells from patients with male infertility.
Supervisor
2019 - 2020 Epigenetic mechanisms underlying age-associated loss of human oocytes quality.
Co-supervisor
2015 - 2020 Role of TET3 enzyme in brain function.
Supervisor
 Envelhecimento e Doenças Crónicas (associação) (PhD)
Universidade do Minho, Portugal
2018 - 2019 ALTERAÇÕES EPIGENÉTICAS NO ABORTAMENTO ESPONTÂNEO
Co-supervisor
 Biotecnologia para as Ciências da Saúde (Master)
Universidade de Trás-os-Montes e Alto Douro Escola de Ciências da Vida e do Ambiente, Portugal
2018 - 2019 Re-expression of the epigenetically silenced androgen receptor gene by DNA methyltransferase inhibitors in castration-resistant prostate cancer cell lines.
Co-supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - 2018 Analysis of Epigenetic Regulators in Human Spermatogenesis
Supervisor
 Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2016 - 2017 TET enzymes and DNA hydroxymethylation in sperm from infertile patients.
Supervisor
Universidade de Trás-os-Montes e Alto Douro, Portugal
2016 - 2017 Epigenetic modifications associated with intrauterine growth restriction (IUGR).
Co-supervisor
Universidade do Porto Faculdade de Ciências, Portugal
2014 - 2015 Candidate genes for epigenetic regulation of imprinted regions.
Supervisor
Universidade do Minho Escola de Medicina, Portugal
2014 - 2014 Epigenetic mechanisms of depression: Role of TET enzymes and DNA methylation/hydroxymethylation on healthy and depressed brains.
Supervisor
Universidade do Minho Escola de Medicina, Portugal
2011 - 2014 Candidate genes for epigenetic regulation of pluripotency.
Supervisor
Universidade do Minho Escola de Medicina, Portugal
2012 - 2012 Stable and inducible RNAi knockdown system in mouse ES cells.
Supervisor
Universidade do Algarve Departamento de Ciências Biomédicas e Medicina, Portugal
2010 - 2010 Effects of Tet1 knockdown in pluripotency.
Co-supervisor
University of Cambridge, United Kingdom
2008 - 2009 Genomic imprinting in azoospermia due to maturation arrest.
Co-supervisor
Universidade de Aveiro Departamento de Biologia, Portugal
2008 - 2008 Purification of germ cells to restore spermatogenesis in leukemia patients.
Co-supervisor
Universidade do Porto Faculdade de Ciências, Portugal
2007 - 2008 Genomic imprinting in azoospermia.
Supervisor
2006 - 2007 Genomic imprinting in oligozoospermia.
Supervisor
Universidade do Minho Escola de Ciências, Portugal
2005 - 2006 Screening of CYP21 mutations in 21-hydroxylase deficient patients.
Co-supervisor
2004 - 2005 Genomic imprinting in oligozoospermia.
Co-supervisor
Universidade de Coimbra Departamento de Ciências da Vida, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2016/04/18 - 2016/04/22 Post-graduation course “Epigenetics – From Mechanisms to Disease” (2016/04/18)
Other (Co-organisor)
 Universidade do Minho Escola de Medicina, Portugal
2014/10/22 - 2014/10/25 Organizer of the EMBO Workshop “Epigenetic Plasticity: implications in neural (dys)function" (2014/10/22)
Workshop (Co-organisor)
 Universidade do Minho Escola de Medicina, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2022/12/14 HCN channelopathy as a key mechanism for auditory hypersensitivity in a Shank3 mouse model of ASD
(Thesis) Main arguer
 Ana Carolina Pinto Castro (Master)
Universidade do Minho Escola de Medicina, Portugal
2022/12/12 RNA and Sperm Motility: what is the relation?
(Thesis) Main arguer
 Carolina Morais da Silva (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2022/12/07 Epigenetic reprogramming by TET enzymes impacts co-transcriptional R-loops
(Thesis) Main arguer
 João Maria Rodrigues Perlico da Cruz Sabino (PhD)
Universidade de Lisboa Faculdade de Medicina, Portugal
2018 Role of the Tet3 enzyme in neuronal morphology and synaptic structure of the hippocampus.
(Thesis) Main arguer
 Fábio Alexandre Lopes Ferreira (Master)
Universidade do Minho Escola de Medicina, Portugal
2018 The relationship between naive pluripotency and X-chromosome inactivation.
Thesis Member
 Elsa Joana Ferreira de Sousa (PhD)
Cambridge Stem Cell Institute, United Kingdom
2017 A genetic study of male infertility centered in semen hyperviscosity and asthenozoospermia phenotypes.
(Thesis) Main arguer
 Joana Catarina Pereira Meireles Gonçalves (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2016 Behavioural and transcriptional plasticity in striatal circuits: from optogenetics to epigenetics.
(Thesis) Arguer
 Pedro Galvão Ferreira (PhD)
Fundação Champalimaud, Portugal
2016 Role of Ccbe1 during cardiac differentiation of mouse ESCs.
(Thesis) Arguer
 Tiago Manuel Santos Justo (PhD)
Universidade do Algarve Centro de Investigação em Biomedicina, Portugal
2016 Generation and characterization of Angelman Syndrome iPSCs for disease modeling and drug screening.
(Thesis) Main arguer
 Duarte Pólvora Brandão (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2015 Estudo das variações de sequência do promotor do gene CYP21A2 em pacientes com suspeita de Hiperplasia Supra-Renal Congénita.
(Thesis) Main arguer
 Ana Patrícia Teixeira dos Santos (Master)
Universidade de Aveiro Departamento de Biologia, Portugal
2012 Cystic Fibrosis: Study of prevalence of the CFTR gene mutations in the Portuguese Population.
(Thesis) Main arguer
 Maria Inês Silva Gregório (Master)
Universidade do Porto Faculdade de Medicina, Portugal

Conference scientific committee

Conference name Conference host
2014/10/22 - 2014/10/25 Epigenetic Plasticity: implications in neural (dys)function EMBO Workshop
Distinctions

Award

2017 CEECInd 2017 (Investigador Auxiliar) - FCT- CEECInd/00371/2017
Fundação para a Ciência e a Tecnologia, Portugal
2012 FCT Investigator - Starting Grant - IF00047/2012
Fundação para a Ciência e a Tecnologia, Portugal
2010 L’Oreal/FCT Medal of Honor for Women in Science
2010 Marie-Curie Intra-European Fellowship (not taken up) - FP7-PEOPLE-2009-IEF - 252660
European Commission, Belgium
2009 EMBO Long-term Fellowship - LTF 1007-2009
EMBO Press, Germany
2008 Promega Young Geneticist of the Year, 2nd prize
Genetics Society, United Kingdom
2007 Best oral presentation 2nd National Meeting of post-graduation in biological sciences
2004 1st Mention of Honor LabMed 2003
2003 Young Scientist Award Portuguese Society of Human Genetics
2002 Best poster presentation Portuguese Society of Reproductive Medicine

Other distinction

2008 Calouste Gulbenkian Foundation Scholarship
Fundação Calouste Gulbenkian, Portugal
2007 Portuguese Society for Stem Cells and Cell Therapies (SPCE-TC) Scholarship
2006 Cold Spring Harbor Scholarship
Cold Spring Harbor Laboratory, United States
2006 Keystone Symposia Scholarship Winner
Keystone Symposia, United States
2005 The Genetics Society (UK) Scholarship
Genetics Society, United Kingdom
2003 Calouste Gulbenkian Foundation Scholarship
Fundação Calouste Gulbenkian, Portugal