33 results on '"Cupertino, Renata Basso"'
Search Results
2. Refining patterns of MEF2C effects in white matter microstructure and psychiatric features
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de Araujo Tavares, Maria Eduarda, Cupertino, Renata Basso, Bandeira, Cibele Edom, da Silva, Bruna Santos, Vitola, Eduardo Schneider, Salgado, Carlos Alberto Iglesias, dos Santos Soares, Robson, Picon, Felipe Almeida, Rohde, Luis Augusto, Rovaris, Diego Luiz, Grevet, Eugenio Horacio, and Bau, Claiton Henrique Dotto
- Subjects
Biological Psychology ,Biomedical and Clinical Sciences ,Psychology ,Biomedical Imaging ,Clinical Research ,Genetics ,Neurosciences ,Mental Health ,Human Genome ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Humans ,White Matter ,MEF2 Transcription Factors ,Brain ,Magnetic Resonance Imaging ,Attention Deficit Disorder with Hyperactivity ,Anisotropy ,MEF2C ,Fractional anisotropy ,Neuroimaging ,MRI ,ADHD ,Neurology & Neurosurgery ,Biological psychology - Abstract
Several GWAS reported Myocyte Enhancer Factor 2 C (MEF2C) gene associations with white matter microstructure and psychiatric disorders, and MEF2C involvement in pathways related to neuronal development suggests a common biological factor underlying these phenotypes. We aim to refine the MEF2C effects in the brain relying on an integrated analysis of white matter and psychiatric phenotypes in an extensively characterized sample. This study included 870 Brazilian adults (47% from an attention-deficit/hyperactivity disorder outpatient clinic) assessed through standardized psychiatric interviews, 139 of which underwent a magnetic resonance imaging scan. We evaluated variants in the MEF2C region using two approaches: 1) a gene-wide analysis, which uses the sum of polymorphism effects, and 2) SNP analyses, restricted to the independent variants within the gene. The outcomes included psychiatric phenotypes and fractional anisotropy for brain images. Results: The gene-wide analyses pointed to a nominal association between MEF2C and the Temporal Portion of the Superior Longitudinal Fasciculus (SLFTEMP). The SNP analysis identified four independent variants significantly associated with SLFTEMP and one (rs4218438) with Substance Use Disorder. Our findings showing specific associations of MEF2C variants with temporal-frontal circuitry components may help to elucidate how the MEF2C gene underlies a broad range of psychiatric phenotypes since these regions are relevant to executive and cognitive functions.
- Published
- 2023
3. The course of attention-deficit/hyperactivity disorder through midlife
- Author
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Grevet, Eugenio Horacio, Bandeira, Cibele Edom, Vitola, Eduardo Schneider, de Araujo Tavares, Maria Eduarda, Breda, Vitor, Zeni, Gregory, Teche, Stefania Pigatto, Picon, Felipe Almeida, Salgado, Carlos Alberto Iglesias, Karam, Rafael Gomes, da Silva, Bruna Santos, Sibley, Margaret H., Rohde, Luis Augusto, Cupertino, Renata Basso, Rovaris, Diego Luiz, and Bau, Claiton Henrique Dotto
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- 2024
- Full Text
- View/download PDF
4. Virtual Ontogeny of Cortical Growth Preceding Mental Illness
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Patel, Yash, Shin, Jean, Abé, Christoph, Agartz, Ingrid, Alloza, Clara, Alnæs, Dag, Ambrogi, Sonia, Antonucci, Linda A, Arango, Celso, Arolt, Volker, Auzias, Guillaume, Ayesa-Arriola, Rosa, Banaj, Nerisa, Banaschewski, Tobias, Bandeira, Cibele, Başgöze, Zeynep, Cupertino, Renata Basso, Bau, Claiton HD, Bauer, Jochen, Baumeister, Sarah, Bernardoni, Fabio, Bertolino, Alessandro, Bonnin, Caterina Del Mar, Brandeis, Daniel, Brem, Silvia, Bruggemann, Jason, Bülow, Robin, Bustillo, Juan R, Calderoni, Sara, Calvo, Rosa, Canales-Rodríguez, Erick J, Cannon, Dara M, Carmona, Susanna, Carr, Vaughan J, Catts, Stanley V, Chenji, Sneha, Chew, Qian Hui, Coghill, David, Connolly, Colm G, Conzelmann, Annette, Craven, Alexander R, Crespo-Facorro, Benedicto, Cullen, Kathryn, Dahl, Andreas, Dannlowski, Udo, Davey, Christopher G, Deruelle, Christine, Díaz-Caneja, Covadonga M, Dohm, Katharina, Ehrlich, Stefan, Epstein, Jeffery, Erwin-Grabner, Tracy, Eyler, Lisa T, Fedor, Jennifer, Fitzgerald, Jacqueline, Foran, William, Ford, Judith M, Fortea, Lydia, Fuentes-Claramonte, Paola, Fullerton, Janice, Furlong, Lisa, Gallagher, Louise, Gao, Bingchen, Gao, Si, Goikolea, Jose M, Gotlib, Ian, Goya-Maldonado, Roberto, Grabe, Hans J, Green, Melissa, Grevet, Eugenio H, Groenewold, Nynke A, Grotegerd, Dominik, Gruber, Oliver, Haavik, Jan, Hahn, Tim, Harrison, Ben J, Heindel, Walter, Henskens, Frans, Heslenfeld, Dirk J, Hilland, Eva, Hoekstra, Pieter J, Hohmann, Sarah, Holz, Nathalie, Howells, Fleur M, Ipser, Jonathan C, Jahanshad, Neda, Jakobi, Babette, Jansen, Andreas, Janssen, Joost, Jonassen, Rune, Kaiser, Anna, Kaleda, Vasiliy, Karantonis, James, King, Joseph A, Kircher, Tilo, Kochunov, Peter, Koopowitz, Sheri-Michelle, Landén, Mikael, Landrø, Nils Inge, and Lawrie, Stephen
- Subjects
Biological Psychology ,Biomedical and Clinical Sciences ,Psychology ,Neurosciences ,Genetics ,Mental Health ,Serious Mental Illness ,Mental Illness ,Women's Health ,Brain Disorders ,Preterm ,Low Birth Weight and Health of the Newborn ,Pregnancy ,Pediatric ,Perinatal Period - Conditions Originating in Perinatal Period ,Behavioral and Social Science ,Prevention ,Schizophrenia ,2.1 Biological and endogenous factors ,2.3 Psychological ,social and economic factors ,Neurological ,Reproductive health and childbirth ,Mental health ,Good Health and Well Being ,Attention Deficit Disorder with Hyperactivity ,Autism Spectrum Disorder ,Bipolar Disorder ,Cerebral Cortex ,Child ,Depressive Disorder ,Major ,Female ,Humans ,Infant ,Newborn ,Magnetic Resonance Imaging ,Premature Birth ,Cortical growth ,Cortical surface area ,Mental illness ,Neurodevelopment ,Neurogenesis ,Psychiatric disorders ,Biological Sciences ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry ,Biological sciences ,Biomedical and clinical sciences - Abstract
BackgroundMorphology of the human cerebral cortex differs across psychiatric disorders, with neurobiology and developmental origins mostly undetermined. Deviations in the tangential growth of the cerebral cortex during pre/perinatal periods may be reflected in individual variations in cortical surface area later in life.MethodsInterregional profiles of group differences in surface area between cases and controls were generated using T1-weighted magnetic resonance imaging from 27,359 individuals including those with attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia, and high general psychopathology (through the Child Behavior Checklist). Similarity of interregional profiles of group differences in surface area and prenatal cell-specific gene expression was assessed.ResultsAcross the 11 cortical regions, group differences in cortical area for attention-deficit/hyperactivity disorder, schizophrenia, and Child Behavior Checklist were dominant in multimodal association cortices. The same interregional profiles were also associated with interregional profiles of (prenatal) gene expression specific to proliferative cells, namely radial glia and intermediate progenitor cells (greater expression, larger difference), as well as differentiated cells, namely excitatory neurons and endothelial and mural cells (greater expression, smaller difference). Finally, these cell types were implicated in known pre/perinatal risk factors for psychosis. Genes coexpressed with radial glia were enriched with genes implicated in congenital abnormalities, birth weight, hypoxia, and starvation. Genes coexpressed with endothelial and mural genes were enriched with genes associated with maternal hypertension and preterm birth.ConclusionsOur findings support a neurodevelopmental model of vulnerability to mental illness whereby prenatal risk factors acting through cell-specific processes lead to deviations from typical brain development during pregnancy.
- Published
- 2022
5. Exploring Neuroimaging Association Scores in adulthood ADHD and middle-age trajectories
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Bandeira, Cibele Edom, Grevet, Eugenio Horacio, Vitola, Eduardo Schneider, da Silva, Bruna Santos, Cupertino, Renata Basso, Picon, Felipe Almeida, Ito, Lucas Toshio, Tavares, Maria Eduarda de Araujo, Rovaris, Diego Luiz, Grimm, Oliver, and Bau, Claiton Henrique Dotto
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- 2024
- Full Text
- View/download PDF
6. Dissecting the cross-trait effects of the FOXP2 GWAS hit on clinical and brain phenotypes in adults with ADHD
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Meyer, Gabriela Pessin, da Silva, Bruna Santos, Bandeira, Cibele Edom, Tavares, Maria Eduarda Araujo, Cupertino, Renata Basso, Oliveira, Eduarda Pereira, Müller, Diana, Kappel, Djenifer B., Teche, Stefania Pigatto, Vitola, Eduardo Schneider, Rohde, Luis Augusto, Rovaris, Diego Luiz, Grevet, Eugenio Horacio, and Bau, Claiton Henrique Dotto
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- 2023
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7. Emerging findings of glutamate–glutamine imbalance in the medial prefrontal cortex in attention deficit/hyperactivity disorder: systematic review and meta-analysis of spectroscopy studies
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Vidor, Marcos Vinícius, Panzenhagen, Alana Castro, Martins, Alexandre Ribeiro, Cupertino, Renata Basso, Bandeira, Cibele Edom, Picon, Felipe Almeida, da Silva, Bruna Santos, Vitola, Eduardo Schneider, Rohde, Luis Augusto, Rovaris, Diego Luiz, Bau, Claiton Henrique Dotto, and Grevet, Eugênio Horácio
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- 2022
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8. Association between cognitive performance and SYT1-rs2251214 among women with cocaine use disorder
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Viola, Thiago Wendt, Schuch, Jaqueline Bohrer, Rovaris, Diego Luiz, Genovese, Rafael, Tondo, Lucca, Sanvicente-Vieira, Breno, Zaparte, Aline, Cupertino, Renata Basso, da Silva, Bruna Santos, Bau, Claiton Henrique Dotto, and Grassi-Oliveira, Rodrigo
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- 2019
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9. Childhood Maltreatment Linked with a Deterioration of Psychosocial Outcomes in Adult Life for Southern Brazilian Transgender Women
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Fontanari, Anna Martha Vaitses, Rovaris, Diego Luiz, Costa, Angelo Brandelli, Pasley, Andrew, Cupertino, Renata Basso, Soll, Bianca Machado Borba, Schwarz, Karine, da Silva, Dhiordan Cardoso, Borba, André Oliveira, Mueller, Andressa, Bau, Claiton Henrique Dotto, and Lobato, Maria Inês Rodrigues
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- 2018
10. Replicated association of Synaptotagmin (SYT1) with ADHD and its broader influence in externalizing behaviors
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Cupertino, Renata Basso, Schuch, Jaqueline Bohrer, Bandeira, Cibele Edom, da Silva, Bruna Santos, Rovaris, Diego Luiz, Kappel, Djenifer B., Contini, Verônica, Salatino-Oliveira, Angélica, Vitola, Eduardo Schneider, Karam, Rafael Gomes, Hutz, Mara Helena, Rohde, Luis Augusto, Grevet, Eugenio Horacio, Bau, Claiton Henrique Dotto, and Mota, Nina Roth
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- 2017
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11. The course of attention-deficit/hyperactivity disorder through midlife
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Grevet, Eugenio Horacio, primary, Bandeira, Cibele Edom, additional, Vitola, Eduardo Schneider, additional, de Araujo Tavares, Maria Eduarda, additional, Breda, Vitor, additional, Zeni, Gregory, additional, Teche, Stefania Pigatto, additional, Picon, Felipe Almeida, additional, Salgado, Carlos Alberto Iglesias, additional, Karam, Rafael Gomes, additional, da Silva, Bruna Santos, additional, Sibley, Margaret H., additional, Rohde, Luis Augusto, additional, Cupertino, Renata Basso, additional, Rovaris, Diego Luiz, additional, and Bau, Claiton Henrique Dotto, additional
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- 2022
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- View/download PDF
12. White Matter microstructure effect in ADHD: a two-sample mendelian randomization study
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Tavares, Maria Eduarda de Araujo, primary, Carpena, Marina Xavier, additional, Vitola, Eduardo Schneider, additional, Bandeira, Cibele Edom, additional, Cupertino, Renata Basso, additional, Colbeich, Eduarda, additional, da Cunha, Pamela Ferreira, additional, Rovaris, Diego Luiz, additional, Grevet, Eugenio Horacio, additional, da Silva, Bruna Santos, additional, and Bau, Claiton Henrique Dotto, additional
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- 2022
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13. Childhood Maltreatment Linked with a Deterioration of Psychosocial Outcomes in Adult Life for Southern Brazilian Transgender Women
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Fontanari, Anna Martha Vaitses, Rovaris, Diego Luiz, Costa, Angelo Brandelli, Pasley, Andrew, Cupertino, Renata Basso, Soll, Bianca Machado Borba, Schwarz, Karine, da Silva, Dhiordan Cardoso, Borba, André Oliveira, Mueller, Andressa, Bau, Claiton Henrique Dotto, and Lobato, Maria Inês Rodrigues
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- 2016
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14. SNARE complex in developmental psychiatry: neurotransmitter exocytosis and beyond
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Cupertino, Renata Basso, Kappel, Djenifer B., Bandeira, Cibele Edom, Schuch, Jaqueline Bohrer, da Silva, Bruna Santos, Müller, Diana, Bau, Claiton Henrique Dotto, and Mota, Nina Roth
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- 2016
- Full Text
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15. Virtual ontogeny of cortical growth preceding mental illness
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German Research Foundation, University of Münster, National Health and Medical Research Council (Australia), University of Cape Town, National Research Foundation (South Africa), Swinburne University of Technology, Jack Brockhoff Foundation, University of Melbourne, Barbara Dicker Brain Sciences Foundation, Rebecca L. Cooper Medical Research Foundation, Society for Mental Health Research (Australia), Swedish Research Council, Swedish Foundation for Strategic Research, Swedish Brain Foundation, Health Research Board (Ireland), Russian Foundation for Basic Research, University of Zurich, Pratt Foundation, Ramsay Health Care, Viertel Charitable Foundation, Schizophrenia Research Institute (Australia), European Commission, Australian Research Council, Instituto de Salud Carlos III, National Institute for Health and Care Research (US), National Institute for Health Research (UK), Ministry of Health of the Czech Republic, Bill & Melinda Gates Foundation, South African Medical Research Council, Carnegie Corporation of New York, Wellcome Trust, Medical Research Council (UK), Medical Research Scotland, Netherlands Organization for Scientific Research, Ambrogi, Sonia [0000-0002-2897-358X], Banaschewski, Tobias [0000-0003-4595-1144], Bandeira, Cibele Edom [0000-0003-0681-1309], Cupertino, Renata [0000-0002-3452-0632], Calderoni, Sara [0000-0002-6250-5739], Cannon, Dara [0000-0001-7378-3411], Carr, Vaughan [0000-0002-8907-5804], Chew, Qian Hui [0000-0003-0969-7994], Coghill, David [0000-0003-3017-9737], Cullen, Kathryn [0000-0001-9631-3770], Dahl, Andreas [0000-0002-8097-2082], Epstein, Jeffery [0000-0003-3464-5256], Foran, William [0000-0001-7491-9798], Fortea, Lydia [0000-0001-6778-2316], Fuentes-Claramonte, Paola [0000-0002-1428-7976], Fullerton, Janice M. [0000-0003-4014-4490], Furlong, Lisa [0000-0001-6196-4565], Gallagher, Louise [0000-0001-9462-2836], Gao, Si [0000-0002-4473-1142], Gotlib, Ian [0000-0002-3622-3199], Haavik, Jan [0000-0001-7865-2808], Henskens, Frans [0000-0003-2358-5630], Hilland, Eva [0000-0002-7102-8372], Hoekstra, Pieter J [0000-0001-7260-4119], Howells, Fleur M [0000-0001-9759-2556], Ipser, Jonathan [0000-0003-1272-0032], Jørgensen, Jes Kristian [0000-0001-9133-1670], Karantonis, James A. [0000-0003-2281-0912], Lawrie, Stephen [0000-0002-2444-5675], Patel, Yash, Shin, Jean, Abé, Christoph, Agartz, Ingrid, Alloza, Clara, Alnæs, Dag, Ambrogi, Sonia, Antonucci, Linda A., Arango, Celso, Arolt, Volker, Auzias, Guillaume, Gruber, Oliver, Haavik, Jan, McDonald, Colm, Hahn, Tim, Harrison, Ben J., Heindel, Walter, Henskens, Frans, Heslenfeld, Dirk J., Hilland, Eva, King, Joseph A., Vernooij, Meike W., Hoekstra, Pieter J., Hohmann, Sarah, Holz, Nathalie, Howells, Fleur M., McIntosh, Andrew, Ipser, Jonathan C., Meinert, Susanne, Hoogman, Martine, Kircher, Tilo, Kochunov, Peter, Vieta, Eduard, Koopowitz, Sheri-Michelle, Landén, Mikael, Landrø, Nils Inge, Lawrie, Stephen, Michie, Patricia T., Ayesa Arriola, Rosa, Mitchell, Philip, Moreno-Alcázar, Ana, Franke, Barbara, Mowry, Bryan, Bau, Claiton H. D., Muratori, Filippo, Nabulsi, Leila, Nenadić, Igor, O'Gorman Tuura, Ruth, Oosterlaan, Jaap, Overs, Bronwyn, Pantelis, Christos, Banaj, Nerisa, Parellada, Mara, van Rooij, Daan, Vilarroya, Oscar, Pariente, Jose C., Pauli, Paul, Pergola, Giulio, Piarulli, Francesco Maria, Picon, Felipe, Piras, Fabrizio, Pomarol-Clotet, Edith, Pretus, Clara, Quidé, Yann, Banaschewski, Tobias, Weickert, Cynthia, Buitelaar, Jan, Radua, Joaquim, Ramos-Quiroga, J. Antoni, Rasser, Paul E., Reif, Andreas, Retico, Alessandra, Roberts, Gloria, Rossell, Susan, Rovaris, Diego Luiz, Rubia, Katya, Weickert, Thomas, Sacchet, Matthew, Ching, Christopher R. K., Bandeira, Cibele, Salavert, Josep, Salvador, Raymond, Sarró, Salvador, Sawa, Akira, Schall, Ulrich, Scott, Rodney, Selvaggi, Pierluigi, Westlye, Lars T., Silk, Tim, Sim, Kang, Andreassen, Ole A., Skoch, Antonin, Başgöze, Zeynep, Spalletta, Gianfranco, Spaniel, Filip, Stein, Dan J., Steinsträter, Olaf, Stolicyn, Aleks, Whalley, Heather, Takayanagi, Yoichiro, Tamm, Leanne, Tavares, Maria, Pozzi, Elena, Teumer, Alexander, Thiel, Katharina, Cupertino, Renata Basso, Thomopoulos, Sophia I., Tomecek, David, Tomyshev, Alexander S., Willinger, David, Tordesillas-Gutiérrez, Diana, Tosetti, Michela, Uhlmann, Anne, Van Rheenen, Tamsyn, Veltman, Dick, Vázquez-Bourgon, Javier, Schmaal, Lianne, Jahanshad, Neda, Winter, Alexandra, Wittfeld, Katharina, Yang, Tony T., Yoncheva, Yuliya, Bauer, Jochen, Zijlmans, Jendé L., Baumeister, Sarah, Lebedeva, Irina, van Erp, Theo G. M., Turner, Jessica, Jakobi, Babette, Castellanos, F. Xavier, Pausova, Zdenka, Thompson, Paul, Paus, Tomas, Bernardoni, Fabio, Bertolino, Alessandro, Bonnin, Caterina Del Mar, Brandeis, Daniel, Luna, Beatriz, Brem, Silvia, Jansen, Andreas, Bruggemann, Jason, Bülow, Robin, Bustillo, Juan R., Calderoni, Sara, Calvo, Rosa, Canales-Rodríguez, Erick J., Cannon, Dara M., Carmona, Susanna, Carr, Vaughan J., Lundervold, Astri J., Janssen, Joost, Catts, Stanley V., Chenji, Sneha, Chew, Qian Hui, Coghill, David, Connolly, Colm G., Conzelmann, Annette, Craven, Alexander R., Crespo-Facorro, Benedicto, Cullen, Kathryn, Dahl, Andreas, Jonassen, Rune, MacMaster, Frank P., Dannlowski, Udo, Davey, Christopher G., Deruelle, Christine, Díaz-Caneja, Covadonga M., Dohm, Katharina, Ehrlich, Stefan, Epstein, Jeffery, Erwin-Grabner, Tracy, Eyler, Lisa T., Kaiser, Anna, Fedor, Jennifer, Maglanoc, Luigi A., Fitzgerald, Jacqueline, Foran, William, Ford, Judith M., Fortea, Lydia, Fuentes-Claramonte, Paola, Fullerton, Janice, Furlong, Lisa, Gallagher, Louise, Kaleda, Vasiliy, Gao, Bingchen, Gao, Si, Mathalon, Daniel H., Goikolea, Jose M., Gotlib, Ian, Goya-Maldonado, Roberto, Grabe, Hans J., Green, Melissa, Grevet, Eugenio H., Groenewold, Nynke A., Karantonis, James, Grotegerd, Dominik., German Research Foundation, University of Münster, National Health and Medical Research Council (Australia), University of Cape Town, National Research Foundation (South Africa), Swinburne University of Technology, Jack Brockhoff Foundation, University of Melbourne, Barbara Dicker Brain Sciences Foundation, Rebecca L. Cooper Medical Research Foundation, Society for Mental Health Research (Australia), Swedish Research Council, Swedish Foundation for Strategic Research, Swedish Brain Foundation, Health Research Board (Ireland), Russian Foundation for Basic Research, University of Zurich, Pratt Foundation, Ramsay Health Care, Viertel Charitable Foundation, Schizophrenia Research Institute (Australia), European Commission, Australian Research Council, Instituto de Salud Carlos III, National Institute for Health and Care Research (US), National Institute for Health Research (UK), Ministry of Health of the Czech Republic, Bill & Melinda Gates Foundation, South African Medical Research Council, Carnegie Corporation of New York, Wellcome Trust, Medical Research Council (UK), Medical Research Scotland, Netherlands Organization for Scientific Research, Ambrogi, Sonia [0000-0002-2897-358X], Banaschewski, Tobias [0000-0003-4595-1144], Bandeira, Cibele Edom [0000-0003-0681-1309], Cupertino, Renata [0000-0002-3452-0632], Calderoni, Sara [0000-0002-6250-5739], Cannon, Dara [0000-0001-7378-3411], Carr, Vaughan [0000-0002-8907-5804], Chew, Qian Hui [0000-0003-0969-7994], Coghill, David [0000-0003-3017-9737], Cullen, Kathryn [0000-0001-9631-3770], Dahl, Andreas [0000-0002-8097-2082], Epstein, Jeffery [0000-0003-3464-5256], Foran, William [0000-0001-7491-9798], Fortea, Lydia [0000-0001-6778-2316], Fuentes-Claramonte, Paola [0000-0002-1428-7976], Fullerton, Janice M. [0000-0003-4014-4490], Furlong, Lisa [0000-0001-6196-4565], Gallagher, Louise [0000-0001-9462-2836], Gao, Si [0000-0002-4473-1142], Gotlib, Ian [0000-0002-3622-3199], Haavik, Jan [0000-0001-7865-2808], Henskens, Frans [0000-0003-2358-5630], Hilland, Eva [0000-0002-7102-8372], Hoekstra, Pieter J [0000-0001-7260-4119], Howells, Fleur M [0000-0001-9759-2556], Ipser, Jonathan [0000-0003-1272-0032], Jørgensen, Jes Kristian [0000-0001-9133-1670], Karantonis, James A. [0000-0003-2281-0912], Lawrie, Stephen [0000-0002-2444-5675], Patel, Yash, Shin, Jean, Abé, Christoph, Agartz, Ingrid, Alloza, Clara, Alnæs, Dag, Ambrogi, Sonia, Antonucci, Linda A., Arango, Celso, Arolt, Volker, Auzias, Guillaume, Gruber, Oliver, Haavik, Jan, McDonald, Colm, Hahn, Tim, Harrison, Ben J., Heindel, Walter, Henskens, Frans, Heslenfeld, Dirk J., Hilland, Eva, King, Joseph A., Vernooij, Meike W., Hoekstra, Pieter J., Hohmann, Sarah, Holz, Nathalie, Howells, Fleur M., McIntosh, Andrew, Ipser, Jonathan C., Meinert, Susanne, Hoogman, Martine, Kircher, Tilo, Kochunov, Peter, Vieta, Eduard, Koopowitz, Sheri-Michelle, Landén, Mikael, Landrø, Nils Inge, Lawrie, Stephen, Michie, Patricia T., Ayesa Arriola, Rosa, Mitchell, Philip, Moreno-Alcázar, Ana, Franke, Barbara, Mowry, Bryan, Bau, Claiton H. D., Muratori, Filippo, Nabulsi, Leila, Nenadić, Igor, O'Gorman Tuura, Ruth, Oosterlaan, Jaap, Overs, Bronwyn, Pantelis, Christos, Banaj, Nerisa, Parellada, Mara, van Rooij, Daan, Vilarroya, Oscar, Pariente, Jose C., Pauli, Paul, Pergola, Giulio, Piarulli, Francesco Maria, Picon, Felipe, Piras, Fabrizio, Pomarol-Clotet, Edith, Pretus, Clara, Quidé, Yann, Banaschewski, Tobias, Weickert, Cynthia, Buitelaar, Jan, Radua, Joaquim, Ramos-Quiroga, J. Antoni, Rasser, Paul E., Reif, Andreas, Retico, Alessandra, Roberts, Gloria, Rossell, Susan, Rovaris, Diego Luiz, Rubia, Katya, Weickert, Thomas, Sacchet, Matthew, Ching, Christopher R. K., Bandeira, Cibele, Salavert, Josep, Salvador, Raymond, Sarró, Salvador, Sawa, Akira, Schall, Ulrich, Scott, Rodney, Selvaggi, Pierluigi, Westlye, Lars T., Silk, Tim, Sim, Kang, Andreassen, Ole A., Skoch, Antonin, Başgöze, Zeynep, Spalletta, Gianfranco, Spaniel, Filip, Stein, Dan J., Steinsträter, Olaf, Stolicyn, Aleks, Whalley, Heather, Takayanagi, Yoichiro, Tamm, Leanne, Tavares, Maria, Pozzi, Elena, Teumer, Alexander, Thiel, Katharina, Cupertino, Renata Basso, Thomopoulos, Sophia I., Tomecek, David, Tomyshev, Alexander S., Willinger, David, Tordesillas-Gutiérrez, Diana, Tosetti, Michela, Uhlmann, Anne, Van Rheenen, Tamsyn, Veltman, Dick, Vázquez-Bourgon, Javier, Schmaal, Lianne, Jahanshad, Neda, Winter, Alexandra, Wittfeld, Katharina, Yang, Tony T., Yoncheva, Yuliya, Bauer, Jochen, Zijlmans, Jendé L., Baumeister, Sarah, Lebedeva, Irina, van Erp, Theo G. M., Turner, Jessica, Jakobi, Babette, Castellanos, F. Xavier, Pausova, Zdenka, Thompson, Paul, Paus, Tomas, Bernardoni, Fabio, Bertolino, Alessandro, Bonnin, Caterina Del Mar, Brandeis, Daniel, Luna, Beatriz, Brem, Silvia, Jansen, Andreas, Bruggemann, Jason, Bülow, Robin, Bustillo, Juan R., Calderoni, Sara, Calvo, Rosa, Canales-Rodríguez, Erick J., Cannon, Dara M., Carmona, Susanna, Carr, Vaughan J., Lundervold, Astri J., Janssen, Joost, Catts, Stanley V., Chenji, Sneha, Chew, Qian Hui, Coghill, David, Connolly, Colm G., Conzelmann, Annette, Craven, Alexander R., Crespo-Facorro, Benedicto, Cullen, Kathryn, Dahl, Andreas, Jonassen, Rune, MacMaster, Frank P., Dannlowski, Udo, Davey, Christopher G., Deruelle, Christine, Díaz-Caneja, Covadonga M., Dohm, Katharina, Ehrlich, Stefan, Epstein, Jeffery, Erwin-Grabner, Tracy, Eyler, Lisa T., Kaiser, Anna, Fedor, Jennifer, Maglanoc, Luigi A., Fitzgerald, Jacqueline, Foran, William, Ford, Judith M., Fortea, Lydia, Fuentes-Claramonte, Paola, Fullerton, Janice, Furlong, Lisa, Gallagher, Louise, Kaleda, Vasiliy, Gao, Bingchen, Gao, Si, Mathalon, Daniel H., Goikolea, Jose M., Gotlib, Ian, Goya-Maldonado, Roberto, Grabe, Hans J., Green, Melissa, Grevet, Eugenio H., Groenewold, Nynke A., Karantonis, James, and Grotegerd, Dominik.
- Abstract
[Background]: Morphology of the human cerebral cortex differs across psychiatric disorders, with neurobiology and developmental origins mostly undetermined. Deviations in the tangential growth of the cerebral cortex during pre/perinatal periods may be reflected in individual variations in cortical surface area later in life., [Methods]: Interregional profiles of group differences in surface area between cases and controls were generated using T1-weighted magnetic resonance imaging from 27,359 individuals including those with attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia, and high general psychopathology (through the Child Behavior Checklist). Similarity of interregional profiles of group differences in surface area and prenatal cell-specific gene expression was assessed., [Results]: Across the 11 cortical regions, group differences in cortical area for attention-deficit/hyperactivity disorder, schizophrenia, and Child Behavior Checklist were dominant in multimodal association cortices. The same interregional profiles were also associated with interregional profiles of (prenatal) gene expression specific to proliferative cells, namely radial glia and intermediate progenitor cells (greater expression, larger difference), as well as differentiated cells, namely excitatory neurons and endothelial and mural cells (greater expression, smaller difference). Finally, these cell types were implicated in known pre/perinatal risk factors for psychosis. Genes coexpressed with radial glia were enriched with genes implicated in congenital abnormalities, birth weight, hypoxia, and starvation. Genes coexpressed with endothelial and mural genes were enriched with genes associated with maternal hypertension and preterm birth., [Conclusions]: Our findings support a neurodevelopmental model of vulnerability to mental illness whereby prenatal risk factors acting through cell-specific processes lead to deviations from typical brain development during pregnancy.
- Published
- 2022
16. Dissecting the cross-trait effects of the FOXP2 GWAS hit on clinical and brain phenotypes in adults with ADHD
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Meyer, Gabriela Pessin, primary, da Silva, Bruna Santos, additional, Bandeira, Cibele Edom, additional, Tavares, Maria Eduarda Araujo, additional, Cupertino, Renata Basso, additional, Oliveira, Eduarda Pereira, additional, Müller, Diana, additional, Kappel, Djenifer B., additional, Teche, Stefania Pigatto, additional, Vitola, Eduardo Schneider, additional, Rohde, Luis Augusto, additional, Rovaris, Diego Luiz, additional, Grevet, Eugenio Horacio, additional, and Bau, Claiton Henrique Dotto, additional
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- 2022
- Full Text
- View/download PDF
17. SYT1 Gene-Wide Analysis on White Matter Microstructure in Adulthood ADHD
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Cupertino, Renata Basso, primary, Silva, Bruna Santos da, additional, Schuch, Jaqueline Bohrer, additional, Bandeira, Cibele Edom, additional, Tavares, Maria Eduarda, additional, Cunha, Pamela Ferreira da, additional, Picon, Felipe Almeida, additional, Vitola, Eduardo Schneider, additional, Rovaris, Diego Luiz, additional, Grevet, Eugenio Horacio, additional, and Bau, Claiton Henrique Dotto, additional
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- 2021
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18. TH88. NOVELTY SEEKING AND WHITE MATTER TRACT INTEGRITY MEDIATE THE RELATION BETWEEN GENETIC RISK FOR CANNABIS USE DISORDER AND CANNABIS USE IN ADOLESCENTS AND YOUNG ADULTS
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Cupertino, Renata Basso, primary, Medland, Sarah, additional, Ottino, Jonatan, additional, Cao, Zhipeng, additional, Juliano, Anthony, additional, Conrod, Patricia, additional, Callas, Peter, additional, Garavan, Hugh, additional, and Mackley, Scott, additional
- Published
- 2021
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19. TU1. POLYGENIC RISK SCORE ANALYSES FOR ATTENTION-DEFICIT/HYPERACTIVITY DISORDER TRAJECTORIES IN ADULTS
- Author
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Bandeira, Cibele Edom, primary, Grevet, Eugenio Horacio, additional, Vitola, Eduardo S., additional, Tavares, Maria Eduarda, additional, Breda, Vitor, additional, Zeni, Gregory, additional, Teche, Stefania Pigatto, additional, Picon, Felipe Almeida, additional, da Silva, Bruna Santos, additional, Rohde, Luis Augusto, additional, Cupertino, Renata Basso, additional, Rovaris, Diego Luiz, additional, and Bau, Claiton H.D., additional
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- 2021
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- View/download PDF
20. TH52. REFINING PATTERNS OF MEF2C ASSOCIATIONS WITH WHITE MATTER MICROSTRUCTURE AND PSYCHIATRIC FEATURES
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Tavares, Maria de Araujo, primary, Cupertino, Renata Basso, additional, Bandeira, Cibele Edom, additional, da Silva, Bruna Santos, additional, Vitola, Eduardo S., additional, Salgado, Carlos A.I., additional, Soares, Robson dos Santos, additional, Picon, Felipe Almeida, additional, Rovaris, Diego Luiz, additional, Grevet, Eugênio H., additional, and Bau, Claiton H.D., additional
- Published
- 2021
- Full Text
- View/download PDF
21. Reduced fronto-striatal volume in attention-deficit/hyperactivity disorder in two cohorts across the lifespan
- Author
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Cupertino, Renata Basso, Grevet, Eugenio Horácio, Bandeira, Cibele Edom, Picon, Felipe Almeida, Tavares, Maria Eduarda de Araujo, Vitola, Eduardo Schneider, Breda, Vitor Carlos Thumé, Bau, Claiton Henrique Dotto, and Sprooten, Emma
- Subjects
Substância branca ,Lobo frontal ,Fronto-striatal ,White matter ,Estudos de coortes ,ADHD ,Tensor-based morphometry ,Anatomia humana ,Independent component analysis ,Transtorno do déficit de atenção com hiperatividade ,Neuroimagem - Abstract
Attention-Deficit/Hyperactivity Disorder (ADHD) has been associated with altered brain anatomy in neuroimaging studies. However, small and heterogeneous study samples, and the use of region-of-interest and tissuespecific analyses have limited the consistency and replicability of these effects. We used a data-driven multivariate approach to investigate neuroanatomical features associated with ADHD in two independent cohorts: the Dutch NeuroIMAGE cohort (n = 890, 17.2 years) and the Brazilian IMpACT cohort (n = 180, 44.2 years). Using independent component analysis of whole-brain morphometry images, 375 neuroanatomical components were assessed for association with ADHD. In both discovery (corrected-p = 0.0085) and replication (p = 0.032) cohorts, ADHD was associated with reduced volume in frontal lobes, striatum, and their interconnecting whitematter. Current results provide further evidence for the role of the fronto-striatal circuit in ADHD in children, and for the first time show its relevance to ADHD in adults. The fact that the cohorts are from different continents and comprise different age ranges highlights the robustness of the findings.
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- 2020
22. Attention-deficit/hyperactivity disorder and brain metabolites from proton magnetic resonance spectroscopy: a systematic review and meta-analysis protocol
- Author
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Vidor, Marcos Vinícius, primary, Panzenhagen, Alana Castro, additional, Martins, Alexandre Ribeiro, additional, Cupertino, Renata Basso, additional, Bandeira, Cibele Edom, additional, Rohde, Luis Augusto, additional, Rovaris, Diego Luiz, additional, Bau, Claiton Henrique Dotto, additional, and Grevet, Eugênio Horácio, additional
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- 2021
- Full Text
- View/download PDF
23. Reduced fronto-striatal volume in attention-deficit/hyperactivity disorder in two cohorts across the lifespan
- Author
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Cupertino, Renata Basso, primary, Soheili-Nezhad, Sourena, additional, Grevet, Eugenio Horacio, additional, Bandeira, Cibele Edom, additional, Picon, Felipe Almeida, additional, Tavares, Maria Eduarda de Araujo, additional, Naaijen, Jilly, additional, van Rooij, Daan, additional, Akkermans, Sophie, additional, Vitola, Eduardo Schneider, additional, Zwiers, Marcel P, additional, Rovaris, Diego Luiz, additional, Hoekstra, Pieter J., additional, Breda, Vitor, additional, Oosterlaan, Jaap, additional, Hartman, Catharina A, additional, Beckmann, Christian F, additional, Buitelaar, Jan K, additional, Franke, Barbara, additional, Bau, Claiton Henrique Dotto, additional, and Sprooten, Emma, additional
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- 2020
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24. Genética e neuroimagem no TDAH e fenótipos relacionados
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Cupertino, Renata Basso, Bau, Claiton Henrique Dotto, and Franke, Barbara
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Transtorno da falta de atenção com hiperatividade ,Neuroimagem - Abstract
O Transtorno de Déficit de Atenção/Hiperatividade (TDAH) é altamente prevalente e leva a prejuízos em diversos domínios. Compreender mais sobre sua etiologia pode romper estigmas que o acompanham e fornecer novas perspectivas para o tratamento. Avanços genéticos recentes têm contribuído substancialmente para isso, embora a maioria dos fatores genéticos envolvidos permaneça desconhecida. Endofenótipos, como aspectos de neuroimagem, constituem em uma estratégia promissora na compreensão da fisiopatologia e da arquitetura genética de transtornos psiquiátricos. Nesse sentido, a presente Tese busca compreender aspectos de neuroimagem e genética do TDAH na vida adulta através de métodos estruturais de ressonância magnética utilizando desde métodos clássicos, abordagens data-driven e técnicas de difusão (conectividade estrutural). Além disso, a Tese explora variantes genéticas envolvidas no TDAH e outros fenótipos relacionados por meio de abordagens single-SNP e gene-wide além de escores de risco poligênico. A Tese inclui ainda dados clínicos de estudo de seguimento em TDAH em adultos, procurando relacionar diferentes desfechos a bases biológicas. O conjunto geral de resultados contribui na compreensão da neurobiologia do TDAH, demonstrando, por exemplo, associações entre regiões fronto-estriatais e tratos de substância branca e o TDAH em duas amostras independentes. Além disso, utilizando abordagens mais clássicas, estendemos para adultos associações já robustamente demonstradas em crianças entre o TDAH e volumes subcorticais e áreas corticais. A presente Tese também mostra em uma abordagem gene-wide a associação de uma variante do gene da Synaptotagmina com a integridade estrutural da substância branca, além da associação de uma variante específica com o Transtorno por Uso de Crack. Dada a alta complexidade do fenótipo TDAH, a presente Tese é parte do início dos esforços científicos no sentido de uma avaliação integrada das bases genéticas e neurobiológicas do transtorno. The Attention-Deficit Hyperactivity Disorder (ADHD) is highly prevalent and leads to impairment in several domains. The understanding about its etiology can break stigmas and provide new perspectives for treatment. Recent genetic advances have contributed substantially to this, although most of the genetic factors involved remain unknown. Endophenotypes, as neuroimaging features, constitute a promising approach for understanding the pathophysiology and genetic architecture of psychiatric disorders. In this sense, the present Thesis sough to understand neuroimaging and genetics aspects of ADHD in adulthood through structural magnetic resonance imaging, using classical methods, data- driven approaches and diffusion techniques (structural connectivity). In addition, the Thesis explores genetic variants involved in ADHD and other related phenotypes through single-SNP and gene-wide approaches, as well as polygenic risk scores. This Thesis also include clinical follow-up data of adults with ADHD, aiming to investigate biological basis underlying different clinical outcomes. The overall results contributes to the understanding of ADHD neurobiology, demonstrating, for instance, associations between fronto-striatal regions and subjacent white matter tracts and ADHD in two independent samples. Also, using a more classical approach, we have extended into adults previously robustly associations between ADHD and subcortical volumes and cortical areas in children. The present Thesis also shows in a gene-wide approach the association of Synaptotagmin gene variants with structural integrity of the white matter, as well as the association of a specific variant with Crack Use Disorder. Given the high complexity of the ADHD phenotype, this Thesis is part of the beginning of scientific efforts towards an integrated assessment of the genetic and neurobiological basis of the disorder.
- Published
- 2019
25. Reduced fronto-striatal volume in ADHD in two cohorts across the lifespan
- Author
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Cupertino, Renata Basso, primary, Soheili-Nezhad, Sourena, additional, Grevet, Eugenio Horacio, additional, Bandeira, Cibele Edom, additional, Picon, Felipe Almeida, additional, Tavares, Maria Eduarda, additional, Naaijen, Jilly, additional, van Rooij, Daan, additional, Akkermans, Sophie, additional, Vitola, Eduardo Schneider, additional, Zwiers, Marcel P, additional, Hoekstra, Pieter J., additional, Breda, Vitor, additional, Oosterlaan, Jaap, additional, Hartman, Catharina A, additional, Beckmann, Christian F., additional, Buitelaar, Jan K., additional, Franke, Barbara, additional, Dotto Bau, Claiton Henrique, additional, and Sprooten, Emma, additional
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- 2019
- Full Text
- View/download PDF
26. F1NEUROIMAGING GENETICS OF REMISSION AND PERSISTENCE IN ADULTHOOD ADHD
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Cupertino, Renata Basso, primary, Bandeira, Cibele Edom, additional, Picon, Felipe Almeida, additional, Müller, Diana, additional, da Silva, Bruna Santos, additional, Kappel, Djenifer B., additional, Tavares, Maria Eduarda, additional, Pacer, Junior, additional, Breda, Vitor, additional, Teche, Stefania Pigatto, additional, Salgado, Carlos A.I., additional, Vitola, Eduardo S., additional, Grevet, Eugenio H., additional, and Bau, Claiton H.D., additional
- Published
- 2019
- Full Text
- View/download PDF
27. FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SYT1-RS2251214 AND USE OF STIMULANTS: CRACK COCAINE ADDICTION SUSCEPTIBILITY AND SEVERITY
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Cupertino, Renata Basso, primary, Santos da Silva, Bruna, additional, Kappel, Djenifer B., additional, Bohrer Schuch, Jaqueline, additional, Vieira, Breno Sanvicente, additional, von Diemen, Lisia, additional, Stolf, Anderson, additional, Kessler, Felix Henrique Paim, additional, Grevet, Eugênio Horácio, additional, Pechansky, Flávio, additional, Grassi-Oliveira, Rodrigo, additional, Bau, Claiton Henrique Dotto, additional, and Rovaris, Diego Luiz, additional
- Published
- 2019
- Full Text
- View/download PDF
28. F3GLOBAL 5-METHYLCYTOSINE LEVELS IN ADULTS WITH ATTENTION DEFICIT/HYPERACTIVITY DISORDER
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Müller, Diana, primary, Assis-Figueira, Natasha, additional, Cupertino, Renata Basso, additional, da Silva, Bruna S., additional, Bandeira, Cibele Edom, additional, Kappel, Djenifer B., additional, Charão, Mariele F., additional, Linden, Rafael, additional, Salgado, Carlos A.I., additional, Grevet, Eugenio H., additional, Bau, Claiton H.D., additional, and Rovaris, Diego L., additional
- Published
- 2019
- Full Text
- View/download PDF
29. Methylphenidate Alters Functional Connectivity of Default Mode Network in Drug-Naive Male Adults With ADHD
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Picon, Felipe Almeida, primary, Sato, João Ricardo, additional, Anés, Maurício, additional, Vedolin, Leonardo Modesti, additional, Mazzola, Alessandro André, additional, Valentini, Bruna Bressan, additional, Cupertino, Renata Basso, additional, Karam, Rafael Gomes, additional, Victor, Marcelo Moraes, additional, Breda, Vitor, additional, Silva, Katiane, additional, da Silva, Neivo, additional, Bau, Claiton Henrique Dotto, additional, Grevet, Eugenio Horacio, additional, and Rohde, Luis Augusto Paim, additional
- Published
- 2018
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30. ASSOCIATION OF SEROTONERGIC GENES WITH ATTENTION-DEFICIT/HYPERACTIVITY DISORDER: GENE-BASED AND GENE-SET ANALYSES
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Panzenhagen, Alana Castro, Cupertino, Renata Basso, Schuch, Jaqueline Bohrer, Rovaris, Diego Luiz, Cibele Edom Bandeira, Müller, Diana, Vitor Breda, Mota, Nina Roth, Grevet, Eugenio Horacio, and Claiton Henrique Dotto Bau
- Published
- 2017
- Full Text
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31. Methylphenidate Alters Functional Connectivity of Default Mode Network in Drug-Naive Male Adults With ADHD.
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Picon, Felipe Almeida, Sato, João Ricardo, Anés, Maurício, Vedolin, Leonardo Modesti, Mazzola, Alessandro André, Valentini, Bruna Bressan, Cupertino, Renata Basso, Karam, Rafael Gomes, Victor, Marcelo Moraes, Breda, Vitor, Silva, Katiane, da Silva, Neivo, Bau, Claiton Henrique Dotto, Grevet, Eugenio Horacio, Rohde, Luis Augusto Paim, and da Silva, Neivo Jr
- Subjects
METHYLPHENIDATE ,ATTENTION-deficit disorder in adults ,NEURAL circuitry ,FUNCTIONAL magnetic resonance imaging ,CINGULATE cortex - Abstract
Objective: This study evaluated the hypothesis that methylphenidate immediate release (MPH-IR) treatment would improve Default Mode Network (DMN) within-connectivity. Method: Resting-state functional connectivity of the main nodes of DMN was evaluated in a highly homogeneous sample of 18 drug-naive male adult participants with ADHD. Results: Comparing resting-state functional connectivity functional magnetic resonance imaging (R-fMRI) scans before and after MPH treatment focusing exclusively on within-DMN connectivity, we evidenced the strengthening of functional connectivity between two nodes of the DMN: posterior cingulate cortex (PCC) and left lateral parietal cortex (LLP). Conclusion: Our results contribute to the further understanding on how MPH affects functional connectivity within DMN of male adults with ADHD and corroborate the hypothesis of ADHD being a delayed neurodevelopmental disorder. [ABSTRACT FROM AUTHOR]
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- 2020
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32. A liberação de neurotransmissores e o Transtorno de Déficit de Atenção/Hiperatividade : evidências de associação do complexo SNARE com fenótipos externalizantes
- Author
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Cupertino, Renata Basso, Bau, Claiton Henrique Dotto, and Mota, Nina Roth
- Subjects
Transtorno da falta de atenção com hiperatividade ,Transtorno depressivo maior - Abstract
O sistema de neurotransmissão está envolvido na maioria dos transtornos psiquiátricos e por isso tem sido alvo de muitos estudos genéticos. Genes de receptores e transportadores de neurotransmissores, principalmente do sistema dopaminérgico e serotoninérgico, estão entre os mais estudados; no entanto genes envolvidos com a liberação de tais neurotransmissores também podem estar contribuindo na etiologia desses transtornos. O Complexo SNARE possui um papel central na liberação de neurotransmissores e dessa forma é possível o seu envolvimento no desenvolvimento de transtornos psiquiátricos. Sendo o Transtorno de Déficit de Atenção/Hiperatividade (TDAH) um dos transtornos mais comuns, causando prejuízo a milhares indivíduos e a sociedade, esse estudo avaliou o efeito de variantes genéticas do Complexo SNARE sobre o TDAH. Foram avaliadas seis variantes nos principais componentes formadores do complexo: Synaptosomal-Associated Protein 25 (SNAP25), Sintaxina 1A (STX1A), Vesicle-Associated Membrane Protein 2 (VAMP2/sinaptobrevina) e Sinaptotagmina 1 (SYT1) (SNAP25-rs8636; SNAP25-rs6108461; STX1A-rs2228607; VAMP2-indel26pb; SYT1-rs1880867; SYT1-rs2251214). Encontramos uma associação entre a presença do genótipo GG do SYT1-rs2251214 e o TDAH. Uma exploração mais profunda dessa variante revelou um efeito significativo sobre a idade de início da manifestação dos sintomas, onde o genótipo que confere risco para TDAH (GG) está associado a um início de sintomas mais precoce. Esse genótipo se mostrou ainda associado a diferentes fenótipos externalizantes e comorbidades, o que corrobora com a hipótese de que transtornos externalizantes possuem fatores genéticos em comum. Em suma, o presente estudo destaca a importância da heterogeneidade clínica em estudos genéticos e demonstra um efeito da sinaptotagmina sobre diversos fenótipos externalizantes, reforçando a ideia dos transtornos externalizantes compartilharem fatores genéticos de risco. The neurotransmitter system is involved in most psychiatric disorders and therefore has been the focus of several genetic studies. Genes encoding neurotransmitter receptors and transporters, mainly regarding the dopamine and serotonin system, are the most studied; however genes involved in the release of such neurotransmitters may also be contributing to the etiology of these disorders. The SNARE complex has a central role in the release of neurotransmitters. Given that Attention Deficit Disorder/Hyperactivity Disorder (ADHD) is one of the most common disorders, causing injury to individuals and society, this study evaluated the effect of gene variants of the SNARE complex on ADHD and related genotypes. We evaluated six variants in the main components forming the SNARE complex: Synaptosomal-Associated Protein 25 (SNAP25; rs8636; rs6108461), Syntaxin 1A (STX1A; rs2228607) Vesicle-Associated Membrane Protein 2 (VAMP2/synaptobrevin; indel26pb) and synaptotagmin 1 (SYT1; rs1880867; rs2251214). We found an association of SYT1-rs2251214 with susceptibility to ADHD. Further exploration of this variant showed a significant effect on the age of onset of symptoms, in which the genotype that confers risk for ADHD (GG) is associated with early onset of symptoms. Moreover, this genotype was associated with different externalizing phenotypes and comorbidities. Overall, this study highlights the importance of clinical heterogeneity in genetic studies and demonstrates an effect of Synaptotagmin on various externalizing phenotypes, reinforces the idea that externalizing disorders share common genetic risk factors.
- Published
- 2015
33. SA111 - FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SYT1-RS2251214 AND USE OF STIMULANTS: CRACK COCAINE ADDICTION SUSCEPTIBILITY AND SEVERITY
- Author
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Cupertino, Renata Basso, Santos da Silva, Bruna, Kappel, Djenifer B., Bohrer Schuch, Jaqueline, Vieira, Breno Sanvicente, von Diemen, Lisia, Stolf, Anderson, Kessler, Felix Henrique Paim, Grevet, Eugênio Horácio, Pechansky, Flávio, Grassi-Oliveira, Rodrigo, Bau, Claiton Henrique Dotto, and Rovaris, Diego Luiz
- Published
- 2019
- Full Text
- View/download PDF
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