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943 results on '"Gennarelli, Massimo"'

2. Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Author

Lipov, Alex, Jurgens, Sean, Mazzarotto, Francesco, Allouba, Mona, Aguib, Yasmine, Gennarelli, Massimo, Yacoub, Magdi, Ellinor, Patrick, Bezzina, Connie, Walsh, Roddy, and Pirruccello, James

Subjects
Cardiovascular genetics, Genetics research, Medical genetics, Medical genomics
Abstract

Discrete categorization of Mendelian disease genes into dominant and recessive models often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are genetic diseases with complex etiologies for which an increasing number of recessive associations have recently been proposed. Here, we comprehensively analyze all published evidence pertaining to biallelic variation associated with CM phenotypes to identify high-confidence recessive genes and explore the spectrum of monoallelic and biallelic variant effects in established recessive and dominant disease genes. We classify 18 genes with robust recessive association with CMs, largely characterized by dilated phenotypes, early disease onset and severe outcomes. Several of these genes have monoallelic association with disease outcomes and cardiac traits in the UK Biobank, including LMOD2 and ALPK3 with dilated and hypertrophic CM, respectively. Our data provide insights into the complex spectrum of dominance and recessiveness in genetic heart disease and demonstrate how such approaches enable the discovery of unexplored genetic associations.

Published
2023

3. Genetic determinants of coping, resilience and self-esteem in schizophrenia suggest a primary role for social factors and hippocampal neurogenesis

Author

Caulo, Chiara, D'Agostino, Giulia, Corrivetti, Giulio, Selvaggi, Pierluigi, D'Ambrosio, Enrico, Di Palo, Piergiuseppe, Atti, Anna Rita, Barlati, Stefano, Ceraso, Anna, Nibbio, Gabriele, Paribello, Pasquale, Marras, Luca, Carpiniello, Bernardo, Piegari, Giuseppe, Giordano, Giulia Maria, Pezzella, Pasquale, Melillo, Antonio, Concerto, Carmen, Mineo, Ludovico, Pettorruso, Mauro, Chiappini, Stefania, Di Carlo, Francesco, Altamura, Mario, Leccisotti, Ivana, De Masi, Laura, Calcagno, Pietro, Serafini, Gianluca, Arzani, Costanza, Di Stefano, Ramona, Pacitti, Francesca, Rossi, Rodolfo, Giusti, Laura, Mammarella, Silvia, Vecchio, Sasha Del, Marcatili, Matteo, Fusi, Oscar, Gramaglia, Carla, Marangon, Debora, Bestagini, Lucia, Meneguzzo, Paolo, Tenconi, Elena, Favaro, Angela, Gerra, Maria Lidia, Borelli, Davide Fausto, Magnani, Francesca, Carpita, Barbara, Cremone, Ivan Mirko, Amatori, Giulia, Buzzanca, Antonino, Frascarelli, Marianna, Accinni, Tommaso, Berardelli, Isabella, Erbuto, Denise, Comparelli, Anna, Cuomo, Alessandro, Goracci, Arianna, Bolognesi, Simone, Niolu, Cinzia, Di Lorenzo, Giorgio, Jannini, Tommaso, Brasso, Claudio, Villari, Vincenzo, Sgro, Rodolfo, Mazzarotto, Francesco, Monteleone, Palmiero, Minelli, Alessandra, Mattevi, Stefania, Cascino, Giammarco, Rocca, Paola, Rossi, Alessandro, Bertolino, Alessandro, Aguglia, Eugenio, Altamura, Carlo, Amore, Mario, Bellomo, Antonello, Bucci, Paola, Collantoni, Enrico, Dell'Osso, Liliana, Di Fabio, Fabio, Fagiolini, Andrea, Giuliani, Luigi, Marchesi, Carlo, Martinotti, Giovanni, Montemagni, Cristiana, Pinna, Federica, Pompili, Maurizio, Rampino, Antonio, Roncone, Rita, Siracusano, Alberto, Vita, Antonio, Zeppegno, Patrizia, Galderisi, Silvana, Gennarelli, Massimo, and Maj, Mario

Published
2024
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4. Telomere length and mitochondrial DNA copy number in association with trauma-focused psychotherapy efficacy

Author

Baune, Bernhard T., Minelli, Alessandra, Serretti, Alessandro, Dierssen, Mara, Maron, Eduard, Potier, Marie-Claude, Gennarelli, Massimo, van Westrhenen, Roos, Squassina, Alessio, Stacey, David, Mehta, Divja, Janzing, JoostG. E., Ebert, Bjarke, Fabbri, Chiara, Lio’, Pietro, Rybakowski, Filip, Pisanu, Claudia, Meloni, Anna, Bortolomasi, Marco, Zampieri, Elisa, Congiu, Donatella, Lana, Beatrice, Manchia, Mirko, Meattini, Mattia, and Paribello, Pasquale

Published
2025
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6. A miR-137–Related Biological Pathway of Risk for Schizophrenia Is Associated With Human Brain Emotion Processing

Author

Pergola, Giulio, Rampino, Antonio, Sportelli, Leonardo, Borcuk, Christopher James, Passiatore, Roberta, Di Carlo, Pasquale, Marakhovskaia, Aleksandra, Fazio, Leonardo, Amoroso, Nicola, Castro, Mariana Nair, Domenici, Enrico, Gennarelli, Massimo, Khlghatyan, Jivan, Kikidis, Gianluca Christos, Lella, Annalisa, Magri, Chiara, Monaco, Alfonso, Papalino, Marco, Parihar, Madhur, Popolizio, Teresa, Quarto, Tiziana, Romano, Raffaella, Torretta, Silvia, Valsecchi, Paolo, Zunuer, Hailiqiguli, Blasi, Giuseppe, Dukart, Juergen, Beaulieu, Jean Martin, and Bertolino, Alessandro

Published
2024
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8. Polygenic scores of subcortical brain volumes as possible modulators of treatment response in depression

Author

Potier, Marie-Claude, van Westrhenen, Roos, Rybakowski, Filip, Mehta, Divya, Dierssen, Mara, Janzing, Joost G.E., Liò, Pietro, Oliva, Vincenzo, Martone, Alfonso, Fanelli, Giuseppe, Domschke, Katharina, Minelli, Alessandra, Gennarelli, Massimo, Martini, Paolo, Bortolomasi, Marco, Maron, Eduard, Squassina, Alessio, Pisanu, Claudia, Kasper, Siegfried, Zohar, Joseph, Souery, Daniel, Montgomery, Stuart, Albani, Diego, Forloni, Gianluigi, Ferentinos, Panagiotis, Rujescu, Dan, Mendlewicz, Julien, De Ronchi, Diana, Baune, Bernhard T., Serretti, Alessandro, and Fabbri, Chiara

Published
2024
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10. A machine learning approach on whole blood immunomarkers to identify an inflammation-associated psychosis onset subgroup

Author

Enrico, Paolo, Delvecchio, Giuseppe, Turtulici, Nunzio, Aronica, Rosario, Pigoni, Alessandro, Squarcina, Letizia, Villa, Filippo M., Perlini, Cinzia, Rossetti, Maria G., Bellani, Marcella, Lasalvia, Antonio, Bonetto, Chiara, Scocco, Paolo, D’Agostino, Armando, Torresani, Stefano, Imbesi, Massimiliano, Bellini, Francesca, Veronese, Angelo, Bocchio-Chiavetto, Luisella, Gennarelli, Massimo, Balestrieri, Matteo, Colombo, Gualtiero I., Finardi, Annamaria, Ruggeri, Mirella, Furlan, Roberto, and Brambilla, Paolo

Published
2023
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11. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Author

Liu, Dongjing, Meyer, Dara, Fennessy, Brian, Feng, Claudia, Cheng, Esther, Johnson, Jessica S., Park, You Jeong, Rieder, Marysia-Kolbe, Ascolillo, Steven, de Pins, Agathe, Dobbyn, Amanda, Lebovitch, Dannielle, Moya, Emily, Nguyen, Tan-Hoang, Wilkins, Lillian, Hassan, Arsalan, Burdick, Katherine E., Buxbaum, Joseph D., Domenici, Enrico, Frangou, Sophia, Hartmann, Annette M., Laurent-Levinson, Claudine, Malhotra, Dheeraj, Pato, Carlos N., Pato, Michele T., Ressler, Kerry, Roussos, Panos, Rujescu, Dan, Arango, Celso, Bertolino, Alessandro, Blasi, Giuseppe, Bocchio-Chiavetto, Luisella, Campion, Dominique, Carr, Vaughan, Fullerton, Janice M., Gennarelli, Massimo, González-Peñas, Javier, Levinson, Douglas F., Mowry, Bryan, Nimgaokar, Vishwajit L., Pergola, Giulio, Rampino, Antonio, Cervilla, Jorge A., Rivera, Margarita, Schwab, Sibylle G., Wildenauer, Dieter B., Daly, Mark, Neale, Benjamin, Singh, Tarjinder, O’Donovan, Michael C., Owen, Michael J., Walters, James T., Ayub, Muhammad, Malhotra, Anil K., Lencz, Todd, Sullivan, Patrick F., Sklar, Pamela, Stahl, Eli A., Huckins, Laura M., and Charney, Alexander W.

Published
2023
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13. Multi-omics data integration methods and their applications in psychiatric disorders

Author

Sathyanarayanan, Anita, Mueller, Tamara T., Ali Moni, Mohammad, Schueler, Katja, Baune, Bernhard T., Lio, Pietro, Mehta, Divya, Baune, Bernhard T, Dierssen, Mara, Ebert, Bjarke, Fabbri, Chiara, Fusar-Poli, Paolo, Gennarelli, Massimo, Harmer, Catherine, Howes, Oliver D., Janzing, Joost G.E., Maron, Eduard, Minelli, Alessandra, Nonell, Lara, Pisanu, Claudia, Potier, Marie-Claude, Rybakowski, Filip, Serretti, Alessandro, Squassina, Alessio, Stacey, David, van Westrhenen, Roos, and Xicota, Laura

Published
2023
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14. Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Author

Bonvicini, Cristian, Scassellati, Catia, Benussi, Luisa, Di Maria, Emilio, Maj, Carlo, Ciani, Miriam, Fostinelli, Silvia, Mega, Anna, Bocchetta, Martina, Lanzi, Gaetana, Giacopuzzi, Edoardo, Ferraboli, Sergio, Pievani, Michela, Fedi, Virginia, Defanti, Carlo Alberto, Giliani, Silvia, Alzheimer’s Disease Neuroimaging Initiative, Frisoni, Giovanni Battista, Ghidoni, Roberta, and Gennarelli, Massimo

Subjects
Alzheimer’s Disease Neuroimaging Initiative, Humans, Dementia, Apolipoproteins E, Risk Assessment, Retrospective Studies, Age of Onset, Alleles, Aged, Middle Aged, Female, Male, Presenilin-2, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Prion Proteins, C9orf72 Protein, Alzheimer’s disease, Lewy body dementia, common variants, early onset dementia, frontotemporal dementia, next generation sequencing, rare mutations, Alzheimer's disease, frontotemporal dementia, Clinical Sciences, Cognitive Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

BackgroundEarly onset dementias (EOD) are rare neurodegenerative dementias that present before 65 years. Genetic factors have a substantially higher pathogenetic contribution in EOD patients than in late onset dementia.ObjectiveTo identify known and/or novel rare variants in major candidate genes associated to EOD by high-throughput sequencing. Common-risk variants of apolipoprotein E (APOE) and prion protein (PRNP) genes were also assessed.MethodsWe studied 22 EOD patients recruited in Memory Clinics, in the context of studies investigating genetic forms of dementia. Two methodological approaches were applied for the target-Next Generation Sequencing (NGS) analysis of these patients. In addition, we performed progranulin plasma dosage, C9Orf72 hexanucleotide repeat expansion analysis, and APOE genotyping.ResultsWe detected three rare known pathogenic mutations in the GRN and PSEN2 genes and eleven unknown-impact mutations in the GRN, VCP, MAPT, FUS, TREM2, and NOTCH3 genes. Six patients were carriers of only common risk variants (APOE and PRNP), and one did not show any risk mutation/variant. Overall, 69% (n = 9) of our early onset Alzheimer's disease (EAOD) patients, compared with 34% (n = 13) of sporadic late onset Alzheimer's disease (LOAD) patients and 27% (n = 73) of non-affected controls (ADNI, whole genome data), were carriers of at least two rare/common risk variants in the analyzed candidate genes panel, excluding the full penetrant mutations.ConclusionThis study suggests that EOD patients without full penetrant mutations are characterized by higher probability to carry polygenic risk alleles that patients with LOAD forms. This finding is in line with recently reported evidence, thus suggesting that the genetic risk factors identified in LOAD might modulate the risk also in EOAD.

Published
2019

15. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author

Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Watanabe, Kyoko, Frei, Oleksandr, Ge, Tian, Harwood, Janet C., Koopmans, Frank, Magnusson, Sigurdur, Richards, Alexander L., Sidorenko, Julia, Wu, Yang, Zeng, Jian, Grove, Jakob, Kim, Minsoo, Li, Zhiqiang, Voloudakis, Georgios, Zhang, Wen, Adams, Mark, Agartz, Ingrid, Atkinson, Elizabeth G., Agerbo, Esben, Al Eissa, Mariam, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Alptekin, Köksal, Als, Thomas D., Amin, Farooq, Arolt, Volker, Arrojo, Manuel, Athanasiu, Lavinia, Azevedo, Maria Helena, Bacanu, Silviu A., Bass, Nicholas J., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Benyamin, Beben, Bergen, Sarah E., Blasi, Giuseppe, Bobes, Julio, Bonassi, Stefano, Braun, Alice, Bressan, Rodrigo Affonseca, Bromet, Evelyn J., Bruggeman, Richard, Buckley, Peter F., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cahn, Wiepke, Cairns, Murray J., Calkins, Monica E., Carr, Vaughan J., Castle, David, Catts, Stanley V., Chambert, Kimberley D., Chan, Raymond C. K., Chaumette, Boris, Cheng, Wei, Cheung, Eric F. C., Chong, Siow Ann, Cohen, David, Consoli, Angèle, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Davidson, Michael, Davis, Kenneth L., de Haan, Lieuwe, Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Faraone, Stephen V., Fiorentino, Alessia, Forstner, Andreas, Frank, Josef, Freimer, Nelson B., Fromer, Menachem, Frustaci, Alessandra, Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Giannitelli, Marianna, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., González Peñas, Javier, González-Pinto, Ana, Gopal, Srihari, Gratten, Jacob, Green, Michael F., Greenwood, Tiffany A., Guillin, Olivier, Gülöksüz, Sinan, Gur, Raquel E., Gur, Ruben C., Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Haroutunian, Vahram, Hartmann, Annette M., Harvey, Carol, Hayward, Caroline, Henskens, Frans A., Herms, Stefan, Hoffmann, Per, Howrigan, Daniel P., Ikeda, Masashi, Iyegbe, Conrad, Joa, Inge, Julià, Antonio, Kähler, Anna K., Kam-Thong, Tony, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Kebir, Oussama, Keller, Matthew C., Kelly, Brian J., Khrunin, Andrey, Kim, Sung-Wan, Klovins, Janis, Kondratiev, Nikolay, Konte, Bettina, Kraft, Julia, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Lee, Phil H., Legge, Sophie E., Lehrer, Douglas S., Lencer, Rebecca, Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Light, Gregory A., Limborska, Svetlana, Liu, Chih-Min, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Macek, Jr, Milan, Mackinnon, Andrew, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Malaspina, Dolores, Mallet, Jacques, Marder, Stephen R., Marsal, Sara, Martin, Alicia R., Martorell, Lourdes, Mattheisen, Manuel, McCarley, Robert W., McDonald, Colm, McGrath, John J., Medeiros, Helena, Meier, Sandra, Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mitjans, Marina, Molden, Espen, Molina, Esther, Molto, María Dolores, Mondelli, Valeria, Moreno, Carmen, Morley, Christopher P., Muntané, Gerard, Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Nikitina-Zake, Liene, Noto, Cristiano, Nuechterlein, Keith H., O’Brien, Niamh Louise, O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Ota, Vanessa Kiyomi, Pantelis, Christos, Papadimitriou, George N., Parellada, Mara, Paunio, Tiina, Pellegrino, Renata, Periyasamy, Sathish, Perkins, Diana O., Pfuhlmann, Bruno, Pietiläinen, Olli, Pimm, Jonathan, Porteous, David, Powell, John, Quattrone, Diego, Quested, Digby, Radant, Allen D., Rampino, Antonio, Rapaport, Mark H., Rautanen, Anna, Reichenberg, Abraham, Roe, Cheryl, Roffman, Joshua L., Roth, Julian, Rothermundt, Matthias, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Sanjuan, Julio, Santoro, Marcos Leite, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Seidman, Larry J., Sharp, Sally Isabel, Shi, Jianxin, Siever, Larry J., Sigurdsson, Engilbert, Sim, Kang, Skarabis, Nora, Slominsky, Petr, So, Hon-Cheong, Sobell, Janet L., Söderman, Erik, Stain, Helen J., Steen, Nils Eiel, Steixner-Kumar, Agnes A., Stögmann, Elisabeth, Stone, William S., Straub, Richard E., Streit, Fabian, Strengman, Eric, Stroup, T. Scott, Subramaniam, Mythily, Sugar, Catherine A., Suvisaari, Jaana, Svrakic, Dragan M., Swerdlow, Neal R., Szatkiewicz, Jin P., Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Toncheva, Draga, Tooney, Paul A., Torretta, Silvia, Tosato, Sarah, Tura, Gian Battista, Turetsky, Bruce I., Üçok, Alp, Vaaler, Arne, van Amelsvoort, Therese, van Winkel, Ruud, Veijola, Juha, Waddington, John, Walter, Henrik, Waterreus, Anna, Webb, Bradley T., Weiser, Mark, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Zhou, Wei, Zhu, Feng, Zimprich, Fritz, Atbaşoğlu, Eşref Cem, Ayub, Muhammad, Benner, Christian, Bertolino, Alessandro, Black, Donald W., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Byerley, William F., Chen, Wei J., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Freedman, Robert, Galletly, Cherrie, Gandal, Michael J., Gennarelli, Massimo, Hougaard, David M., Hwu, Hai-Gwo, Jablensky, Assen V., McCarroll, Steven A., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Müller-Myhsok, Bertram, Neil, Amanda L., Nordentoft, Merete, Pato, Michele T., Petryshen, Tracey L., Pirinen, Matti, Pulver, Ann E., Schulze, Thomas G., Silverman, Jeremy M., Smoller, Jordan W., Stahl, Eli A., Tsuang, Debby W., Vilella, Elisabet, Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Arango, Celso, Baune, Bernhard T., Belangero, Sintia Iole, Børglum, Anders D., Braff, David, Bramon, Elvira, Buxbaum, Joseph D., Campion, Dominique, Cervilla, Jorge A., Cichon, Sven, Collier, David A., Corvin, Aiden, Curtis, David, Forti, Marta Di, Domenici, Enrico, Ehrenreich, Hannelore, Escott-Price, Valentina, Esko, Tõnu, Fanous, Ayman H., Gareeva, Anna, Gawlik, Micha, Gejman, Pablo V., Gill, Michael, Glatt, Stephen J., Golimbet, Vera, Hong, Kyung Sue, Hultman, Christina M., Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Kennedy, James L., Khusnutdinova, Elza, Kirov, George, Knowles, James A., Krebs, Marie-Odile, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., Malhotra, Dheeraj, McIntosh, Andrew, McQuillin, Andrew, Menezes, Paulo R., Morgan, Vera A., Morris, Derek W., Mowry, Bryan J., Murray, Robin M., Nimgaonkar, Vishwajit, Nöthen, Markus M., Ophoff, Roel A., Paciga, Sara A., Palotie, Aarno, Pato, Carlos N., Qin, Shengying, Rietschel, Marcella, Riley, Brien P., Rivera, Margarita, Rujescu, Dan, Saka, Meram C., Sanders, Alan R., Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Shi, Yongyong, St Clair, David, Stefánsson, Hreinn, Stefansson, Kari, Tsuang, Ming T., van Os, Jim, Vawter, Marquis P., Weinberger, Daniel R., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Holmans, Peter A., Pocklington, Andrew J., Roussos, Panos, Vassos, Evangelos, Verhage, Matthijs, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Kendler, Kenneth S., Owen, Michael J., Wray, Naomi R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Sullivan, Patrick F., Ripke, Stephan, Walters, James T. R., and O’Donovan, Michael C.

Published
2022
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16. Circulating Serum Micro-RNA as Non-Invasive Diagnostic Biomarkers of Endometriosis.

Author

Ravaggi, Antonella, Bergamaschi, Cosetta, Galbiati, Chiara, Zanotti, Laura, Fabricio, Aline S. C., Gion, Massimo, Cappelletto, Elia, Leon, Antonette E., Gennarelli, Massimo, Romagnolo, Cesare, Ciravolo, Giuseppe, Calza, Stefano, Bignotti, Eliana, and Odicino, Franco

Subjects
GENE expression, NON-coding RNA, MICRORNA, BIOMARKERS, RNA
Abstract

Background/Objectives: Endometriosis (END) is a painful gynecological condition. Clinical examination, imaging, and laparoscopy can provide a definitive diagnosis of END. Nonetheless, non-invasive biomarkers could help enhance and streamline the diagnostic process. Micro-RNAs (miRNAs), a family of small non-coding RNAs, could serve as useful non-invasive biomarkers for END. The aim of this study was to perform serum miRNA profiling in a retrospective cohort of women to identify miRNAs that are differentially expressed in END compared to control patients. Methods: RNA was isolated from serum samples of 67 END patients and 60 control women. The expression profile of a 754-miRNA panel was studied with RT-qPCR performed on a QuantStudio 12K Flex with the TaqMan OpenArray miRNA panel. A Censored Regression Model was used for miRNA differential expression analysis. Several gene-enrichment algorithms were employed to identify pathways related to the target genes of differentially expressed miRNAs. Results: One hundred and thirty miRNAs were detected in at least 75% of samples from either the END or the control group. Sixteen miRNAs were significantly modulated between the END and control groups. Enrichment analysis identified targets significantly overrepresented in numerous pathways involved in biological processes related to END, including inflammation, angiogenesis, cellular invasion, cell-cycle/cell proliferation, and estrogen and progesterone hormonal signaling. Conclusions: Our study indicates that differentially expressed miRNAs between END patients and controls can be identified through liquid biopsy. Our findings also suggest a potential role for serum miRNAs in the pathophysiology of END, warranting further investigations for their use as non-invasive biomarkers. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Transcriptional biomarkers of response to pharmacological treatments in severe mental disorders: A systematic review

Author

Pisanu, Claudia, Severino, Giovanni, De Toma, Ilario, Dierssen, Mara, Fusar-Poli, Paolo, Gennarelli, Massimo, Lio, Pietro, Maffioletti, Elisabetta, Maron, Eduard, Mehta, Divya, Minelli, Alessandra, Potier, Marie-Claude, Serretti, Alessandro, Stacey, David, van Westrhenen, Roos, Xicota, Laura, Baune, Bernhard T, and Squassina, Alessio

Published
2022
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18. A meta-analysis of polygenic risk scores for mood disorders, neuroticism, and schizophrenia in antidepressant response

Author

Fanelli, Giuseppe, Domschke, Katharina, Minelli, Alessandra, Gennarelli, Massimo, Martini, Paolo, Bortolomasi, Marco, Maron, Eduard, Squassina, Alessio, Kasper, Siegfried, Zohar, Joseph, Souery, Daniel, Montgomery, Stuart, Albani, Diego, Forloni, Gianluigi, Ferentinos, Panagiotis, Rujescu, Dan, Mendlewicz, Julien, De Ronchi, Diana, Baune, Bernhard T, Serretti, Alessandro, and Fabbri, Chiara

Published
2022
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20. Leucine-Rich Repeat Kinase-2 Controls the Differentiation and Maturation of Oligodendrocytes in Mice and Zebrafish.

Author

Filippini, Alice, Cannone, Elena, Mazziotti, Valentina, Carini, Giulia, Mutti, Veronica, Ravelli, Cosetta, Gennarelli, Massimo, Schiavone, Marco, and Russo, Isabella

Subjects
TRANSCRIPTION factors, MYELIN basic protein, NERVE growth factor, DARDARIN, PARKINSON'S disease, OLIGODENDROGLIA
Abstract

Leucine-rich repeat kinase-2 (LRRK2), a gene mutated in familial and sporadic Parkinson's disease (PD), controls multiple cellular processes important for GLIA physiology. Interestingly, emerging studies report that LRRK2 is highly expressed in oligodendrocyte precursor cells (OPCs) compared to the pathophysiology of other brain cells and oligodendrocytes (OLs) in PD. Altogether, these observations suggest crucial function(s) of LRRK2 in OPCs/Ols, which would be interesting to explore. In this study, we investigated the role of LRRK2 in OLs. We showed that LRRK2 knock-out (KO) OPC cultures displayed defects in the transition of OPCs into OLs, suggesting a role of LRRK2 in OL differentiation. Consistently, we found an alteration of myelin basic protein (MBP) striosomes in LRRK2 KO mouse brains and reduced levels of oligodendrocyte transcription factor 2 (Olig2) and Mbp in olig2:EGFP and mbp:RFP transgenic zebrafish embryos injected with lrrk2 morpholino (MO). Moreover, lrrk2 knock-down zebrafish exhibited a lower amount of nerve growth factor (Ngf) compared to control embryos, which represents a potent regulator of oligodendrogenesis and myelination. Overall, our findings indicate that LRRK2 controls OL differentiation, affecting the number of mature OLs. [ABSTRACT FROM AUTHOR]

Published
2024
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22. DNA methylation changes in association with trauma-focused psychotherapy efficacy in treatment-resistant depression patients: a prospective longitudinal study

Author

Carvalho Silva, Rosana, primary, Martini, Paolo, additional, Hohoff, Christa, additional, Mattevi, Stefania, additional, Bortolomasi, Marco, additional, Menesello, Valentina, additional, Gennarelli, Massimo, additional, Baune, Bernhard T., additional, and Minelli, Alessandra, additional

Published
2024
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23. An integrated precision medicine approach in major depressive disorder: a study protocol to create a new algorithm for the prediction of treatment response

Author

Baune, Bernhard T., primary, Minelli, Alessandra, additional, Carpiniello, Bernardo, additional, Contu, Martina, additional, Domínguez Barragán, Jorge, additional, Donlo, Chus, additional, Ferensztajn-Rochowiak, Ewa, additional, Glaser, Rosa, additional, Kelch, Britta, additional, Kobelska, Paulina, additional, Kolasa, Grzegorz, additional, Kopeć, Dobrochna, additional, Martínez de Lagrán Cabredo, María, additional, Martini, Paolo, additional, Mayer, Miguel-Angel, additional, Menesello, Valentina, additional, Paribello, Pasquale, additional, Perera Bel, Júlia, additional, Perusi, Giulia, additional, Pinna, Federica, additional, Pinna, Marco, additional, Pisanu, Claudia, additional, Sierra, Cèsar, additional, Stonner, Inga, additional, Wahner, Viktor T. H., additional, Xicota, Laura, additional, Zang, Johannes C. S., additional, Gennarelli, Massimo, additional, Manchia, Mirko, additional, Squassina, Alessio, additional, Potier, Marie-Claude, additional, Rybakowski, Filip, additional, Sanz, Ferran, additional, and Dierssen, Mara, additional

Published
2024
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24. Polygenic scores of subcortical brain volumes as possible modulators of treatment response in depression

Author

Oliva, Vincenzo, primary, Martone, Alfonso, additional, Fanelli, Giuseppe, additional, Domschke, Katharina, additional, Minelli, Alessandra, additional, Gennarelli, Massimo, additional, Martini, Paolo, additional, Bortolomasi, Marco, additional, Maron, Eduard, additional, Squassina, Alessio, additional, Pisanu, Claudia, additional, Kasper, Siegfried, additional, Zohar, Joseph, additional, Souery, Daniel, additional, Montgomery, Stuart, additional, Albani, Diego, additional, Forloni, Gianluigi, additional, Ferentinos, Panagiotis, additional, Rujescu, Dan, additional, Mendlewicz, Julien, additional, De Ronchi, Diana, additional, Baune, Bernhard T., additional, Serretti, Alessandro, additional, Fabbri, Chiara, additional, Potier, Marie-Claude, additional, van Westrhenen, Roos, additional, Rybakowski, Filip, additional, Mehta, Divya, additional, Dierssen, Mara, additional, Janzing, Joost G.E., additional, and Liò, Pietro, additional

Published
2024
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26. Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled trial (PANDORA trial)

Author

Minelli, Alessandra, Barlati, Stefano, Vitali, Erika, Bignotti, Stefano, Dattilo, Vincenzo, Tura, Giovanni Battista, Maffioletti, Elisabetta, Giacopuzzi, Edoardo, Santoro, Vincenza, Perusi, Giulia, Cobelli, Chiara, Magri, Chiara, Bonizzato, Silvia, Bocchio-Chiavetto, Luisella, Spina, Edoardo, Vita, Antonio, and Gennarelli, Massimo

Published
2021
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28. International Consortium on the Genetics of Electroconvulsive Therapy and Severe Depressive Disorders (Gen-ECT-ic)

Author

Soda, Takahiro, McLoughlin, Declan M., Clark, Scott R., Oltedal, Leif, Kessler, Ute, Haavik, Jan, Bousman, Chad, Smith, Daniel J., Bioque, Miquel, Clements, Caitlin C., Loo, Colleen, Vila-Rodriguez, Fidel, Minelli, Alessandra, Mickey, Brian J., Milev, Roumen, Docherty, Anna R., Langan Martin, Julie, Achtyes, Eric D., Arolt, Volker, Redlich, Ronny, Dannlowski, Udo, Cardoner, Narcis, Clare, Emily, Craddock, Nick, Di Florio, Arianna, Dmitrzak-Weglarz, Monika, Forty, Liz, Gordon-Smith, Katherine, Husain, Mustafa, Ingram, Wendy M., Jones, Lisa, Jones, Ian, Juruena, Mario, Kirov, George, Landén, Mikael, Müller, Daniel J., Nordensköld, Axel, Pålsson, Erik, Paul, Meethu, Permoda, Agnieszka, Pliszka, Bartlomiej, Rea, Jamie, Schubert, Klaus O., Sonnen, Joshua A., Soria, Virginia, Stageman, Will, Takamiya, Akihiro, Urretavizacaya, Mikel, Watson, Stuart, Zavorotny, Maxim, Young, Allan H., Vieta, Eduard, Rybakowski, Janusz K., Gennarelli, Massimo, Zandi, Peter P., Sullivan, Patrick F., and Baune, Bernhard T.

Published
2020
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31. A miR-137-related biological pathway of risk for Schizophrenia is associated with human brain emotion processing

Author

Pergola, Giulio, primary, Rampino, Antonio, additional, Sportelli, Leonardo, additional, Borcuk, Christopher James, additional, Passiatore, Roberta, additional, Di Carlo, Pasquale, additional, Marakhovskaia, Aleksandra, additional, Fazio, Leonardo, additional, Amoroso, Nicola, additional, Castro, Mariana Nair, additional, Domenici, Enrico, additional, Gennarelli, Massimo, additional, Khlghatyan, Jivan, additional, Kikidis, Gianluca Christos, additional, Lella, Annalisa, additional, Magri, Chiara, additional, Monaco, Alfonso, additional, Papalino, Marco, additional, Parihar, Madhur, additional, Popolizio, Teresa, additional, Quarto, Tiziana, additional, Romano, Raffaella, additional, Torretta, Silvia, additional, Valsecchi, Paolo, additional, Zunuer, Hediche, additional, Blasi, Giuseppe, additional, Dukart, Juergen, additional, Beaulieu, Jean Martin, additional, and Bertolino, Alessandro, additional

Published
2023
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33. Immune and metabolic alterations in first episode psychosis (FEP) patients

Author

Bocchio-Chiavetto, Luisella, Zanardini, Roberta, Tosato, Sarah, Ventriglia, Mariacarla, Ferrari, Clarissa, Bonetto, Chiara, Lasalvia, Antonio, Giubilini, Franco, Fioritti, Angelo, Pileggi, Francesca, Pratelli, Michela, Pavanati, Michele, Favaro, Angela, De Girolamo, Giovanni, Frisoni, Giovanni Battista, Ruggeri, Mirella, and Gennarelli, Massimo

Published
2018
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35. Assessment of haptoglobin alleles in autism spectrum disorders

Author

Cupaioli, Francesca Anna, Mosca, Ettore, Magri, Chiara, Gennarelli, Massimo, Moscatelli, Marco, Raggi, Maria Elisabetta, Landini, Martina, Galluccio, Nadia, Villa, Laura, Bonfanti, Arianna, Renieri, Alessandra, Fallerini, Chiara, Minelli, Alessandra, Marabotti, Anna, Milanesi, Luciano, Fasano, Alessio, and Mezzelani, Alessandra

Published
2020
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36. Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A*03:01 allele

Author

Magri, Chiara, primary, Marchina, Eleonora, additional, Sansone, Emanuele, additional, D'Adamo, Adamo Pio, additional, Cappellani, Stefania, additional, Bonfanti, Carlo, additional, Terlenghi, Luigina, additional, Biasiotto, Giorgio, additional, Zanella, Isabella, additional, Sala, Emma, additional, Caruso, Arnaldo, additional, Lombardo, Massimo, additional, Gasparini, Paolo, additional, De Palma, Giuseppe, additional, and Gennarelli, Massimo, additional

Published
2023
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40. LRRK2 kinase inhibition attenuates neuroinflammation and cytotoxicity in animal models of Alzheimer's and Parkinson's disease-related neuroinflammation

Author

Mutti Veronica, Carini Giulia, Filippini Alice, Castrezzati Stefania, Giugno Lorena, Gennarelli Massimo, and Russo Isabella

Abstract

Chronic neuroinflammation plays a crucial role in the progression of several neurodegenerative diseases (NDDs), including Parkinson's disease (PD) and Alzheimer's disease (AD). Intriguingly, in the last decade, Leucine-Rich Repeat Kinase-2 (LRRK2), a gene mutated in familial and sporadic PD, was revealed as a key mediator of neuroinflammation. Therefore, the anti-inflammatory properties of LRRK2 inhibitors are started to be considered as disease-modifying treatment for PD; however, to date, there is little evidence on the beneficial effects of targeting LRRK2-related neuroinflammation in preclinical models. In this study, we further validated LRRK2 kinase modulation as a pharmacological intervention in preclinical models of AD- and PD-related neuroinflammation. Specifically, we reported that LRRK2 kinase inhibition with MLi2 and PF-06447475 (PF) molecules attenuated neuroinflammation, gliosis and cytotoxicity in mice with intracerebral injection of Ab1-42 fibrils or a-syn pre-formed fibrils (pffs). Moreover, for the first time in vivo, we showed that LRRK2 kinase activity participates in AD-related neuroinflammation and therefore might contribute to AD pathogenesis. Overall, our findings added evidence on the anti-inflammatory effects of LRRK2 kinase inhibition in preclinical models and indicate that targeting LRRK2 activity could be a disease-modifying treatment for NDDs with an inflammatory component.

Published
2023
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42. Dopamine-Dependent Ketamine Modulation of Glutamatergic Synaptic Plasticity in the Prelimbic Cortex of Adult Rats Exposed to Acute Stress

Author

Forti, Lia, primary, Ndoj, Elona, additional, Mingardi, Jessica, additional, Secchi, Emanuele, additional, Bonifacino, Tiziana, additional, Schiavon, Emanuele, additional, Carini, Giulia, additional, La Via, Luca, additional, Russo, Isabella, additional, Milanese, Marco, additional, Gennarelli, Massimo, additional, Bonanno, Giambattista, additional, Popoli, Maurizio, additional, Barbon, Alessandro, additional, and Musazzi, Laura, additional

Published
2023
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43. Identification of an inflammation-associated psychosis onset subgroup by applying unsupervised machine learning to whole-blood expression levels of immune gene transcripts

Author

Enrico, Paolo, primary, Delvecchio, Giuseppe, additional, Turtulici, Nunzio, additional, Aronica, Rosario, additional, Pigoni, Alessandro, additional, Squarcina, Letizia, additional, Villa, Filippo M., additional, Perlini, Cinzia, additional, Rossetti, Maria G., additional, Bellani, Marcella, additional, Lasalvia, Antonio, additional, Bonetto, Chiara, additional, Scocco, Paolo, additional, D'Agostino, Armando, additional, Torresani, Stefano, additional, Imbesi, Massimiliano, additional, Bellini, Francesca, additional, Veronese, Angelo, additional, Bocchio-Chiavetto, Luisella, additional, Gennarelli, Massimo, additional, Balestrieri, Matteo, additional, Colombo, Gualtiero I., additional, Finardi, Annamaria, additional, Ruggeri, Mirella, additional, Furlan, Roberto, additional, and Brambilla, Paolo, additional

Published
2023
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46. LRRK2 kinase inhibition attenuates neuroinflammation and neurotoxicity in animal models of Alzheimer's and Parkinson's disease-related neuroinflammation

Author

Mutti Veronica, Carini Giulia, Filippini Alice, Castrezzati Stefania, Giugno Lorena, Gennarelli Massimo, and Russo Isabella

Abstract

Chronic neuroinflammation plays a crucial role in the progression of several neurodegenerative diseases, including Parkinson's disease (PD) and Alzheimer's disease (AD). Intriguingly, in the last decade, Leucine-Rich Repeat Kinase-2 (LRRK2), a gene mutated in familial and sporadic PD, was revealed as a key mediator of the neuroinflammatory response. Therefore, the anti-inflammatory properties of LRRK2 inhibitors are started to be considered as disease-modifying treatment for PD; however, there is little evidence on the beneficial effects of targeting LRRK2-related neuroinflammation in preclinical models. In this study, we further validated LRRK2 kinase modulation as a pharmacological intervention in preclinical models of AD- and PD-related neuroinflammation. Specifically, we reported that LRRK2 kinase inhibition with MLi2 and PF-06447475 (PF) molecules attenuated neuroinflammation, gliosis, and neurotoxicity in mice with an intracerebral injection of Aß1-42 fibrils (AD mouse model) and a-syn pre-formed fibrils (pffs; PD mouse model). In addition, for the first time in vivo, we showed that LRRK2 kinase activity participates to AD-related neuroinflammation and therefore might contribute to AD pathogenesis. Overall, these findings added evidence on the anti-inflammatory proprieties of LRRK2 kinase inhibition in preclinical models and further indicate that targeting LRRK2 activity could be a disease-modifying treatment for NDDs with an inflammatory component.

Published
2023
Full Text
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