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Identification

Personal identification

Full name
Josianne Nunes-Carriço

Author identifiers

Ciência ID
F418-B572-BFE2
Education
Degree Classification
2020/09/01 - 2024/09/01
Ongoing
 Biomedicina (Doutoramento)
Universidade da Beira Interior, Portugal
2008/09 - 2010/07/08
Concluded
 Biochemistry (Master)
Major in Biochemistry applied to the industrial environment
Université de Montréal Faculté de médecine, Canada
 3,815 (converted to 18)
2000/09 - 2005/08/25
Concluded
 Anatomical Pathology, Cytology and Thanatology (Licenciatura)
Major in Cytopathology; Histotechnology; Clinical and Forensic Thanatology; Immunohistochemical and Molecular Pathology Technologies; Electronic Microscopy
Instituto Politécnico de Lisboa Escola Superior de Tecnologia da Saúde de Lisboa, Portugal
 16
Affiliation

Science

Category
Host institution 		Employer
2019/02/01 - Current Researcher (Research) Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2010/09/01 - 2017/08/31 Research Assistant (Research) Centre de recherche du CHU Sainte-Justine, Canada
Centre de recherche du CHU Sainte-Justine, Canada
2010/01/06 - 2010/04/23 Research Trainee (Research) Viscogliosi Molecular Genetics Laboratory of Musculoskeletal Disorders of the CHU Sainte-Justine Research Centre, Canada
Centre de recherche du CHU Sainte-Justine, Canada
2008/04/01 - 2008/07/31 Research Trainee (Research) Universite de Montreal Departement de biochimie et medecine moleculaire, Canada
Universite de Montreal Departement de biochimie et medecine moleculaire, Canada

Other Careers

Category
Host institution 		Employer
2005 - 2007/12/31 Técnico de 2ª Classe (Técnico de Diagnóstico e Terapêutica - Técnico de Anatomia Patológica, Citológica e Tanatológica) Centro Hospitalar Cova da Beira EPE, Portugal
Hospital Pêro da Covilhã, Portugal
Projects

Grant

Designation Funders
2020/11/01 - 2024/11/01 Identification of genetic causes of congenital hypogonadotropic hypogonadism using next-generation sequencing.
2020.04924.BD
PhD Student Fellow
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2020/01/02 - 2020/10/31 ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons.
CENTRO-01-0145-FEDER-000013
Research Fellow
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
 Programa Operacional Regional do Centro 2014-2020 (Centro2020), Portugal
Ongoing
2019/02/01 - 2019/12/31 GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis.
POCI-01-0145-FEDER-029489
Research Fellow
Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference abstract
  1. Choudhury, Mayukh; Carrico, Josianne Nunes; Berryer, Martin; Di Cristo, Graziella. "Role of mTOR pathway in GABAergic maturation in the mouse neocortex". Paper presented in International Society for Developmental Neuroscience (ISDN), Montréal, 2015.
    Published • 10.1016/j.ijdevneu.2015.04.124 • Assistant staff
Conference poster
  1. Nunes-Carriço, Josianne; Gonçalves, Catarina; Saraiva, Luís R.; Lemos, Manuel C. "P01.020.D - Genetics of congenital hypogonadotropic hypogonadism in the portuguese population.". Paper presented in European Human Genetics Conference 2023, Glasgow, Scotland, UK., 2023.
  2. Nunes-Carriço, Josianne; Gonçalves, C.I.; Syed, Najeeb; Saraiva, L R; Lemos, Manuel C. Corresponding author: Nunes-Carriço, Josianne. "Genetics of congenital hypogonadotropic hypogonadism in the Portuguese population". Paper presented in European Human Genetics Conference Glasgow, Scotland, UK, 2023.
  3. Gendron, Karine; Carriço, Josianne; Dulude, Dominic; Heveker, Nikolaus; Léa Brakier-Gingras. "The Internal Ribosome Entry Site (IRES) Present in the 5'UTR of the full-length mRNA of HIV-1 Group M subtype B is functional in cultured cells and conserved among Group M subtypes A and C". Paper presented in The annual Conference on Retroviruses and Opportunistic Infections (CROI), 2009.
  4. Gendron, Karine; Nunes-Carriço, Josianne (F418-B572-BFE2); Dulude, Dominic; Heveker, Nikolaus; Brakier-Gingras, Léa. "Does the human immunodeficiency virus type 1 (HIV-1) use an internal ribosome entry site to translate its structural and enzymatic proteins?". Paper presented in RiboClub Annual Meeting, 2008.
Journal article
  1. Josianne Nunes Carriço; Catarina Inês Gonçalves; José Maria Aragüés; Manuel Carlos Lemos. "Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing". International Journal of Molecular Sciences (2024): https://doi.org/10.3390/ijms252212061.
    10.3390/ijms252212061
  2. Josianne Nunes Carriço; Catarina Inês Gonçalves; Asma Al-Naama; Najeeb Syed; José Maria Aragüés; Margarida Bastos; Fernando Fonseca; et al. "Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort". Human Reproduction Open (2024): http://dx.doi.org/10.1093/hropen/hoae053.
    10.1093/hropen/hoae053
  3. Catarina I. Gonçalves; Josianne N. Carriço; Omneya M. Omar; Ebtesam Abdalla; Manuel C. Lemos. "Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site". Frontiers in Endocrinology 14 (2023): http://dx.doi.org/10.3389/fendo.2023.1207425.
    10.3389/fendo.2023.1207425
  4. Catarina I. Gonçalves; Josianne Carriço; Margarida Bastos; Manuel C. Lemos. "Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients". International Journal of Molecular Sciences (2022): https://doi.org/10.3390/ijms231710026.
    10.3390/ijms231710026
  5. Clara A. Amegandjin; Mayukh Choudhury; Vidya Jadhav; Josianne Nunes Carriço; Ariane Quintal; Martin Berryer; Marina Snapyan; et al. "Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss". Nature Communications 12 1 (2021): https://doi.org/10.1038/s41467-021-23939-7.
    10.1038/s41467-021-23939-7
  6. Munguba, Hermany; Chattopadhyaya, Bidisha; Nilsson, Stephan; Nunes-Carriço, Josianne; Memic, Fatima; Oberst, Polina; Batista-Brito, Renata; et al. "Postnatal Sox6 Regulates Synaptic Function of Cortical Parvalbumin-Expressing Neurons". The Journal of Neuroscience 41 43 (2021): 8876-8886. http://dx.doi.org/10.1523/jneurosci.0021-21.2021.
    10.1523/jneurosci.0021-21.2021
  7. Awad, Patricia Nora; Amegandjin, Clara Akofa; Szczurkowska, Joanna; Carriço, Josianne Nuñes; Fernandes do Nascimento, Antônia Samia; Baho, Elie; Chattopadhyaya, Bidisha; et al. "KCC2 Regulates Dendritic Spine Formation in a Brain-Region Specific and BDNF Dependent Manner". Cerebral Cortex 28 11 (2018): 4049-4062. http://dx.doi.org/10.1093/cercor/bhy198.
    Published • 10.1093/cercor/bhy198 • Assistant staff
  8. Awad, Patricia N.; Sanon, Nathalie T.; Chattopadhyaya, Bidisha; Carriço, Josianne Nunes; Ouardouz, Mohamed; Gagné, Jonathan; Duss, Sandra; et al. "Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures". Neurobiology of Disease 91 (2016): 10-20. http://dx.doi.org/10.1016/j.nbd.2016.02.014.
    Published • 10.1016/j.nbd.2016.02.014 • Assistant staff
Magazine article
  1. Carriço, Josianne; Bento, Ana; Ferro, Amadeu; Quintino, Fernanda; Viegas, Carla; Albuquerque, Paula; Viegas, Susana. "Exposição ao Xilol nos laboratórios de Anatomia Patológica", Revista Segurança, 2006
Online resource
  1. Mayukh Choudhury; Clara A. Amegandjin; Vidya Jadhav; Nunes-Carriço, Josianne; Ariane Quintal; Martin Berryer; Marina Snapyan; et al. Inhibition of mTOR during a postnatal sensitive window rescues deficits in GABAergic PV cell connectivity and social behavior caused by loss of TSC1.. 2020. https://doi.org/10.1101/2020.03.29.014563.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/07/10 GENETICS OF CONGENITAL HYPOGONADOTROPIC HYPOGONADISM IN THE PORTUGUESE POPULATION XVIII International CICS-UBI Symposium
Health Sciences Research Centre (CICS-UBI) (Covilhã, Portugal)
2010/04/23 Signalisation des protéines G inhibitrices dans les lymphocytes B immortalisés provenants des patients atteints de la scoliose idiopatique de l’adolescent Presentation of internship results to jury. Responsible of evaluation : Dr. Jurgen Sygusch.
Université de Montréal; (Montréal, Canada)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2014/09 - 2014/09 Journée portes ouvertes du CHU Sainte-Justine, is a annual event which offers guided visits to certain care units, meeting with managers, professionals and employees in the sectors and general information on major projects at CHU Sainte-Justine. (2014/09 - 2014/09)
Exhibition (Co-organisor)
 Centre de recherche du CHU Sainte-Justine, Canada

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2024/06/01 - 2024/06/04 The annual ESHG conference is the major scientific and professional event in human genetics which brings together European and international geneticists.
Conference
 European Human Genetics Conference 2024
European Society of Human Genetics, Austria
2024/02/01 - 2024/02/04 Congresso Português de Endocrinologia 2024, 75a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo
Congress
 75a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2023/06/10 - 2023/06/13 The annual ESHG conference is the major scientific and professional event in human genetics which brings together European and international geneticists.
Conference
 European Human Genetics Conference 2023
European Society of Human Genetics, Austria
2023/02/02 - 2023/02/05 Congresso Português de Endocrinologia 2023 – 74a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo
Congress
 Congresso Português de Endocrinologia 2023 - 74ª Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo
Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2019/11/08 - 2019/11/08 Post graduate education on NGS/WES – Genomic revolution in the clinical practice. Introduction to NGS technologies; Clinical practice under the scope of new genetic technologies; Variant classes and classification principles; The relevance of population allele frequencies; Practice of alignment, prioritization of genes and variants; Real cases to be solved in our own computer.
Workshop
 NGS/WES – Genomic revolution in the clinical practice
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2014/07/19 - 2014/07/24 Meeting of the 20th Biennial Meeting of the International Society for Developmental Neuroscience and the 5th Annual NeuroDevNet Brain Development Conference
Meeting
 20th Biennial Meeting of the International Society for Developmental Neuroscience and the 5th Annual NeuroDevNet Brain Development Conference
International Society for Developmental Neuroscience (ISDN), Canada

Kids Brain Health Network (KBHN), Canada

Association member

Society Organization name Role
2005 - Current Professional license as Diagnostic and Therapeutic Technician Diagnostic and Therapeutic Technician - Pathological, Cytological and Thanatological Anatomy Technician
Distinctions

Award

2023 Oral communication award - XVIII International CICS-UBI Symposium
Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2011 Recognition for my participation in the development of the academic life of the CHU Sainte-Justine Research Center
Centre de recherche du CHU Sainte-Justine, Canada

Other distinction

2023 ESHG Conference fellowship for European countries
European Society of Human Genetics, Austria
2008 Master's Scholarships Department of Biochemistry Awarded as part of funding agreements from the Faculty of Graduate Studies
Universite de Montreal Faculte de etudes superieures et postdoctorales, Canada

Universite de Montreal Departement de biochimie et medecine moleculaire, Canada