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846 results on '"Renieri, Alessandra"'

2. A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Author

Jermy, Bradley, Läll, Kristi, Wolford, Brooke N., Wang, Ying, Zguro, Kristina, Cheng, Yipeng, Kanai, Masahiro, Kanoni, Stavroula, Yang, Zhiyu, Hartonen, Tuomo, Monti, Remo, Wanner, Julian, Youssef, Omar, Lippert, Christoph, van Heel, David, Okada, Yukinori, McCartney, Daniel L., Hayward, Caroline, Marioni, Riccardo E., Furini, Simone, Renieri, Alessandra, Martin, Alicia R., Neale, Benjamin M., Hveem, Kristian, Mägi, Reedik, Palotie, Aarno, Heyne, Henrike, Mars, Nina, Ganna, Andrea, and Ripatti, Samuli

Published
2024
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3. Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response

Author

Esposito, Martina, Minnai, Francesca, Copetti, Massimiliano, Miscio, Giuseppe, Perna, Rita, Piepoli, Ada, De Vincentis, Gabriella, Benvenuto, Mario, D’Addetta, Paola, Croci, Susanna, Baldassarri, Margherita, Bruttini, Mirella, Fallerini, Chiara, Brugnoni, Raffaella, Cavalcante, Paola, Baggi, Fulvio, Corsini, Elena Maria Grazia, Ciusani, Emilio, Andreetta, Francesca, Dragani, Tommaso A., Fratelli, Maddalena, Carella, Massimo, Mantegazza, Renato E., Renieri, Alessandra, and Colombo, Francesca

Published
2024
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4. A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Author

Minnai, Francesca, Biscarini, Filippo, Esposito, Martina, Dragani, Tommaso A., Bujanda, Luis, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Bernardo, David, Carnero-Montoro, Elena, Buti, Maria, Zeberg, Hugo, Asselta, Rosanna, Romero-Gómez, Manuel, Fernandez-Cadenas, Israel, Fallerini, Chiara, Zguro, Kristina, Croci, Susanna, Baldassarri, Margherita, Bruttini, Mirella, Furini, Simone, Renieri, Alessandra, and Colombo, Francesca

Published
2024
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5. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Author

Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, and Talkowski, Michael E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Human Genome, Mental Health, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.

Published
2022

8. Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males

Author

Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M., Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, and Mari, Francesca

Published
2023
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9. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Author

Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C., Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M., Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, and Van Esch, Hilde

Published
2023
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10. Mapping the human genetic architecture of COVID-19

Author

Niemi, Mari EK, Karjalainen, Juha, Liao, Rachel G, Neale, Benjamin M, Daly, Mark, Ganna, Andrea, Davis, Lea, Lee, Sulggi, Priest, James, Renieri, Alessandra, Sankaran, Vijay G, van Heel, David, Deelen, Patrick, Richards, J Brent, Nakanishi, Tomoko, Biesecker, Les, Kerchberger, V Eric, Baillie, J Kenneth, Mari, Francesca, Bernasconi, Anna, Baillie, Stefano Ceri, Canakoglu, Arif, Chang, Xiao, Glessner, Joseph R, and Hakonarson, Hakon

Subjects
Genetics, Prevention, Human Genome, Biodefense, Vaccine Related, Clinical Research, Lung, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Autoimmunity, Body Mass Index, COVID-19, Critical Illness, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Geographic Mapping, Hospitalization, Host-Pathogen Interactions, Humans, Inflammation, Information Dissemination, Male, Multifactorial Inheritance, Racial Groups, SARS-CoV-2, Smoking, COVID-19 Host Genetics Initiative, General Science & Technology
Abstract

The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3-7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease.

Published
2021

11. CYP19A1 mediates severe SARS-CoV-2 disease outcome in males

Author

Stanelle-Bertram, Stephanie, Beck, Sebastian, Mounogou, Nancy Kouassi, Schaumburg, Berfin, Stoll, Fabian, Al Jawazneh, Amirah, Schmal, Zoé, Bai, Tian, Zickler, Martin, Beythien, Georg, Becker, Kathrin, de la Roi, Madeleine, Heinrich, Fabian, Schulz, Claudia, Sauter, Martina, Krasemann, Susanne, Lange, Philine, Heinemann, Axel, van Riel, Debby, Leijten, Lonneke, Bauer, Lisa, van den Bosch, Thierry P.P., Lopuhaä, Boaz, Busche, Tobias, Wibberg, Daniel, Schaudien, Dirk, Goldmann, Torsten, Lüttjohann, Anna, Ruschinski, Jenny, Jania, Hanna, Müller, Zacharias, Pinho dos Reis, Vinicius, Krupp-Buzimkic, Vanessa, Wolff, Martin, Fallerini, Chiara, Baldassarri, Margherita, Furini, Simone, Norwood, Katrina, Käufer, Christopher, Schützenmeister, Nina, von Köckritz-Blickwede, Maren, Schroeder, Maria, Jarczak, Dominik, Nierhaus, Axel, Welte, Tobias, Kluge, Stefan, McHardy, Alice C., Sommer, Frank, Kalinowski, Jörn, Krauss-Etschmann, Susanne, Richter, Franziska, von der Thüsen, Jan, Baumgärtner, Wolfgang, Klingel, Karin, Ondruschka, Benjamin, Renieri, Alessandra, and Gabriel, Gülsah

Published
2023
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12. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Author

Denommé-Pichon, Anne-Sophie, Collins, Stephan C., Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E., Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E., Overs, Alexis, Palomares-Bralo, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, and Yalcin, Binnaz

Published
2023
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14. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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17. The 2019 and 2021 International Workshops on Alport Syndrome

Author

Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S., Hoefele, Julia, Flinter, Frances, Gale, Daniel P., Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H., Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B., Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A. Neil, Baldassarri, Margherita, Pinto, Anna Maria, and Renieri, Alessandra

Published
2022
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18. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Author

Fallerini, Chiara, Picchiotti, Nicola, Baldassarri, Margherita, Zguro, Kristina, Daga, Sergio, Fava, Francesca, Benetti, Elisa, Amitrano, Sara, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Lista, Mirjam, Beligni, Giada, Valentino, Floriana, Meloni, Ilaria, Tanfoni, Marco, Minnai, Francesca, Colombo, Francesca, Cabri, Enrico, Fratelli, Maddalena, Gabbi, Chiara, Mantovani, Stefania, Frullanti, Elisa, Gori, Marco, Crawley, Francis P., Butler-Laporte, Guillaume, Richards, Brent, Zeberg, Hugo, Lipcsey, Miklos, Hultström, Michael, Ludwig, Kerstin U., Schulte, Eva C., Pairo-Castineira, Erola, Baillie, John Kenneth, Schmidt, Axel, Frithiof, Robert, Mari, Francesca, Renieri, Alessandra, and Furini, Simone

Published
2022
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20. A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Author

Istituto Buddista Italiano Soka Gakkai, Banca Intesa Sanpaolo, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Minnai, Francesca, Biscarini, Filippo, Esposito, Martina, Dragani, Tommaso A., Bujanda, Luis, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Bernardo, David, Carnero-Montoro, Elena, Buti, Maria, Zeberg, Hugo, Asselta, Rosanna, Romero-Gómez, Manuel, Fernandez-Cadenas, Israel, Fallerini, Chiara, Zguro, Kristina, Croci, Susanna, Baldassarri, Margherita, Bruttini, Mirella, Furini, Simone, Renieri, Alessandra, Colombo, Francesca, Istituto Buddista Italiano Soka Gakkai, Banca Intesa Sanpaolo, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Minnai, Francesca, Biscarini, Filippo, Esposito, Martina, Dragani, Tommaso A., Bujanda, Luis, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Bernardo, David, Carnero-Montoro, Elena, Buti, Maria, Zeberg, Hugo, Asselta, Rosanna, Romero-Gómez, Manuel, Fernandez-Cadenas, Israel, Fallerini, Chiara, Zguro, Kristina, Croci, Susanna, Baldassarri, Margherita, Bruttini, Mirella, Furini, Simone, Renieri, Alessandra, and Colombo, Francesca

Abstract

The clinical manifestations of SARS-CoV-2 infection vary widely among patients, from asymptomatic to life-threatening. Host genetics is one of the factors that contributes to this variability as previously reported by the COVID-19 Host Genetics Initiative (HGI), which identified sixteen loci associated with COVID-19 severity. Herein, we investigated the genetic determinants of COVID-19 mortality, by performing a case-only genome-wide survival analysis, 60 days after infection, of 3904 COVID-19 patients from the GEN-COVID and other European series (EGAS00001005304 study of the COVID-19 HGI). Using imputed genotype data, we carried out a survival analysis using the Cox model adjusted for age, age2, sex, series, time of infection, and the first ten principal components. We observed a genome-wide significant (P-value < 5.0 × 10-8) association of the rs117011822 variant, on chromosome 11, of rs7208524 on chromosome 17, approaching the genome-wide threshold (P-value = 5.19 × 10-8). A total of 113 variants were associated with survival at P-value < 1.0 × 10-5 and most of them regulated the expression of genes involved in immune response (e.g., CD300 and KLR genes), or in lung repair and function (e.g., FGF19 and CDH13). Overall, our results suggest that germline variants may modulate COVID-19 risk of death, possibly through the regulation of gene expression in immune response and lung function pathways.

Published
2024

21. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024

22. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Author

Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Jr., Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina, Yaldiz, Burcu, Laurie, Steve, de Reuver, Rick, Kwint, Michael, Pfundt, Rolph, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., and Vissers, Lisenka E.L.M.

Published
2022
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23. Crossing Boundaries: Documentation of a Teacher Training Course on Design, Robotics and Coding

Author

Giannandrea, Lorella, Gratani, Francesca, and Renieri, Alessandra

Abstract

This article reports on the results of a teacher training course in which 41 teachers, working together with three university researchers, experienced a different way to engage in meaningful teaching and learning activities in design, coding and robotics. The course was run in an Italian school during the lock-down period of the COVID-19 pandemics. The training path had the objective to make the participants work differently, acting both as researchers and as teachers in training. The research reported in this article examined if and how an online teacher training course could act as a third space between school and academic cultures to achieve a negotiation of pedagogical practices. Findings from the study, collected through pre-post questionnaires and open-ended discussions, highlight an improvement in knowledge related to coding and robotics. Moreover, during the course, teachers experienced a new approach to space-time dimensions, first-hand experimentation and a collaborative approach, leading to greater perceived confidence in their skills and competences.

Published
2020
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24. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021
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28. Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.

Author

Martelloni, Gabriele, Turchi, Alessio, Fallerini, Chiara, Degl'Innocenti, Andrea, Baldassarri, Margherita, Olmi, Simona, Furini, Simone, and Renieri, Alessandra

Subjects
MACHINE learning, COVID-19 pandemic, LOGISTIC regression analysis, GENETIC algorithms, STATISTICAL weighting, GENETICS
Abstract

The impact of common and rare variants in COVID-19 host genetics has been widely studied. In particular, in Fallerini et al. (Human genetics, 2022, 141, 147-173), common and rare variants were used to define an interpretable machine learning model for predicting COVID-19 severity. First, variants were converted into sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. After that, the Boolean features, selected by these logistic models, were combined into an Integrated PolyGenic Score (IPGS), which offers a very simple description of the contribution of host genetics in COVID-19 severity. IPGS leads to an accuracy of 55%-60% on different cohorts, and, after a logistic regression with both IPGS and age as inputs, it leads to an accuracy of 75%. The goal of this paper is to improve the previous results, using not only the most informative Boolean features with respect to the genetic bases of severity but also the information on host organs involved in the disease. In this study, we generalize the IPGS adding a statistical weight for each organ, through the transformation of Boolean features into "Boolean quantum features," inspired by quantum mechanics. The organ coefficients were set via the application of the genetic algorithm PyGAD, and, after that, we defined two new integrated polygenic scores (IPGS¹ph and IPGS²ph). By applying a logistic regression with both IPGS, (IPGS²ph (or indifferently IPGS¹ph) and age as inputs, we reached an accuracy of 84%-86%, thus improving the results previously shown in Fallerini et al. (Human genetics, 2022, 141, 147-173) by a factor of 10%. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

Author

Patriarchi, Tommaso, Amabile, Sonia, Frullanti, Elisa, Landucci, Elisa, Lo Rizzo, Caterina, Ariani, Francesca, Costa, Mario, Olimpico, Francesco, W Hell, Johannes, M Vaccarino, Flora, Renieri, Alessandra, and Meloni, Ilaria

Subjects
Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Pediatric, Brain Disorders, Neurodegenerative, Rett Syndrome, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Animals, Brain, Cells, Cultured, Female, Forkhead Transcription Factors, Glutamate Dehydrogenase, Humans, Induced Pluripotent Stem Cells, Infant, Mice, Mice, Inbred C57BL, Nerve Tissue Proteins, Neurogenesis, Neurons, Receptors, Glutamate, Synapses, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in either MECP2, CDKL5 or FOXG1. The precise molecular mechanisms that lead to the pathogenesis of RTT have yet to be elucidated. We recently reported that expression of GluD1 (orphan glutamate receptor δ-1 subunit) is increased in iPSC-derived neurons obtained from patients with mutations in either MECP2 or CDKL5. GluD1 controls synaptic differentiation and shifts the balance between excitatory and inhibitory synapses toward the latter. Thus, an increase in GluD1 might be a critical factor in the etiology of RTT by affecting the excitatory/inhibitory balance in the developing brain. To test this hypothesis, we generated iPSC-derived neurons from FOXG1(+/-) patients. We analyzed mRNA and protein levels of GluD1 together with key markers of excitatory and inhibitory synapses in these iPSC-derived neurons and in Foxg1(+/-) mouse fetal (E11.5) and adult (P70) brains. We found strong correlation between iPSC-derived neurons and fetal mouse brains, where GluD1 and inhibitory synaptic markers (GAD67 and GABA AR-α1) were increased, whereas the levels of a number of excitatory synaptic markers (VGLUT1, GluA1, GluN1 and PSD-95) were decreased. In adult mice, GluD1 was decreased along with all GABAergic and glutamatergic markers. Our findings further the understanding of the etiology of RTT by introducing a new pathological event occurring in the brain of FOXG1(+/-) patients during embryonic development and its time-dependent shift toward a general decrease in brain synapses.

Published
2016

31. Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Author

Garnier, Nicolas, primary, Berghout, Joanne, additional, Zygmunt, Aldona, additional, Singh, Deependra, additional, Huang, Kui A., additional, Kantz, Waltraud, additional, Blankart, Carl Rudolf, additional, Gillner, Sandra, additional, Zhao, Jiawei, additional, Roettger, Richard, additional, Saier, Christina, additional, Kirschner, Jan, additional, Schenk, Joern, additional, Atkins, Leon, additional, Ryan, Nuala, additional, Zarakowska, Kaja, additional, Zschüntzsch, Jana, additional, Zuccolo, Michela, additional, Müllenborn, Matthias, additional, Man, Yuen-Sum, additional, Goodman, Liz, additional, Trad, Marie, additional, Chalandon, Anne Sophie, additional, Sansen, Stefaan, additional, Martinez-Fresno, Maria, additional, Badger, Shirlene, additional, Walther van Olden, Rudolf, additional, Rothmann, Robert, additional, Lehner, Patrick, additional, Tschohl, Christof, additional, Baillon, Ludovic, additional, Gumus, Gulcin, additional, Gross, Edith, additional, Stefanov, Rumen, additional, Iskrov, Georgi, additional, Raycheva, Ralitsa, additional, Kostadinov, Kostadin, additional, Mitova, Elena, additional, Einhorn, Moshe, additional, Einhorn, Yaron, additional, Schepers, Josef, additional, Hübner, Miriam, additional, Alves, Frauke, additional, Iskandar, Rowan, additional, Mayer, Rudolf, additional, Renieri, Alessandra, additional, Piperkova, Aneta, additional, Gut, Ivo, additional, Beltran, Sergi, additional, Matthiesen, Mads Emil, additional, Poetz, Marion, additional, Hansson, Mats, additional, Trollmann, Regina, additional, Agolini, Emanuele, additional, Ottombrino, Silvia, additional, Novelli, Antonio, additional, Bertini, Enrico, additional, Selvatici, Rita, additional, Farnè, Marianna, additional, Fortunato, Fernanda, additional, and Ferlini, Alessandra, additional

Published
2023
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33. AAV-mediated FOXG1 gene editing in human Rett primary cells

Author

Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Papa, Filomena Tiziana, Frullanti, Elisa, Lopergolo, Diego, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Benetti, Elisa, Niccheri, Francesca, Furini, Simone, Lo Rizzo, Caterina, Conticello, Silvestro Giovanni, Renieri, Alessandra, and Meloni, Ilaria

Published
2020
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34. Crossing boundaries: documentation of a teacher training course on design, robotics and coding

Author

Giannandrea Lorella, Gratani Francesca, and Renieri Alessandra

Subjects
online teacher training, professional learning, teaching and learning, learning contexts, Education (General), L7-991, Communication. Mass media, P87-96
Abstract

This article reports on the results of a teacher training course in which 41 teachers, working together with three university researchers, experienced a different way to engage in meaningful teaching and learning activities in design, coding and robotics. The course was run in an Italian school during the lock-down period of the Covid-19 pandemics. The training path had the objective to make the participants work differently, acting both as researchers and as teachers in training. The research reported in this article examined if and how an online teacher training course could act as a third space between school and academic cultures to achieve a negotiation of pedagogical practices.

Published
2020
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35. SELP Asp603Asn and severe thrombosis in COVID-19 males

Author

Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M., Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, and Mari, Francesca

Published
2021
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38. Human CRY1 variants associate with attention deficit/hyperactivity disorder

Author

Onat, O. Emre, Kars, M. Ece, Gul, Seref, Bilguvar, Kaya, Wu, Yiming, Ozhan, Ayse, Aydin, Cihan, Basak, A. Nazli, Trusso, M. Allegra, Goracci, Arianna, Fallerini, Chiara, Renieri, Alessandra, Casanova, Jean-Laurent, Itan, Yuval, Atbasoglu, Cem E., Saka, Meram C., Kavakli, Halil, and Ozcelik, Tayfun

Subjects
France. National Research Agency -- Analysis, Thermo Fisher Scientific Inc., Sleep -- Genetic aspects -- Analysis, Insomnia -- Genetic aspects, Medical schools -- Analysis, Scientific equipment industry -- Genetic aspects -- Analysis, Health care industry, Bilkent University
Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse phenotyping approach, we report heterozygous coding variations in the core circadian clock gene cryptochrome 1 in 15 unrelated multigenerational families with combined ADHD and insomnia. The variants led to functional alterations in the circadian molecular rhythms, providing a mechanistic link to the behavioral symptoms. One variant, CRY1[DELTA]11 c.1657+3A>C, is present in approximately 1% of Europeans, therefore standing out as a diagnostic and therapeutic marker. We showed by exome sequencing in an independent cohort of patients with combined ADHD and insomnia that 8 of 62 patients and 0 of 369 controls carried CRY1[DELTA]11. Also, we identified a variant, CRY1[DELTA]6 c.825+1G>A, that shows reduced affinity for BMAL1/CLOCK and causes an arrhythmic phenotype. Genotype-phenotype correlation analysis revealed that this variant segregated with ADHD and delayed sleep phase disorder (DSPD) in the affected family. Finally, we found in a phenome-wide association study involving 9438 unrelated adult Europeans that CRY1[DELTA]11 was associated with major depressive disorder, insomnia, and anxiety. These results defined a distinctive group of circadian psychiatric phenotypes that we propose to designate as 'circiatric' disorders., Introduction Sleep is genetically regulated by the circadian rhythm. Disruption of this rhythm leads to aberrant sleep patterns (1-4). Sleep is also frequently disturbed in individuals with psychiatric disorders. For [...]

Published
2020
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39. High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

Author

Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Frullanti, Elisa, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Ciabattini, Annalisa, Furini, Simone, Lo Rizzo, Caterina, Pinto, Anna Maria, Conticello, Silvestro Giovanni, Renieri, Alessandra, and Meloni, Ilaria

Published
2020
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41. Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

Author

Pecorelli, Alessandra, Belmonte, Giuseppe, Meloni, Ilaria, Cervellati, Franco, Gardi, Concetta, Sticozzi, Claudia, De Felice, Claudio, Signorini, Cinzia, Cortelazzo, Alessio, Leoncini, Silvia, Ciccoli, Lucia, Renieri, Alessandra, Forman, Henry Jay, Hayek, Joussef, and Valacchi, Giuseppe

Subjects
Medical Biochemistry and Metabolomics, Biomedical and Clinical Sciences, Brain Disorders, Neurodegenerative, Clinical Research, Rett Syndrome, Pediatric, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Cells, Cultured, Child, Child, Preschool, Epileptic Syndromes, Female, Fibroblasts, Gene Expression, Humans, Lipids, Male, NF-E2-Related Factor 2, Nitric Oxide Synthase Type II, Oxidative Stress, Protein Serine-Threonine Kinases, Scavenger Receptors, Class B, Spasms, Infantile, Up-Regulation, Scavenger receptor class B type 1, Nuclear factor erythroid 2-related factor 2, 4-Hydroxy-2-nonenal, Nitrotyrosine, Inducible nitric oxide synthase, Oxidative stress, Free radicals, Scavenger receptor class B, type 1, Medicinal and Biomolecular Chemistry, Biochemistry and Cell Biology, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical biochemistry and metabolomics
Abstract

CDKL5 mutation is associated with an atypical Rett syndrome (RTT) variant. Recently, cholesterol homeostasis perturbation and oxidative-mediated loss of the high-density lipoprotein receptor SRB1 in typical RTT have been suggested. Here, we demonstrate an altered lipid serum profile also in CDKL5 patients with decreased levels of SRB1 and impaired activation of the defensive system Nrf2. In addition, CDKL5 fibroblasts showed an increase in 4-hydroxy-2-nonenal- and nitrotyrosine-SRB1 adducts that lead to its ubiquitination and probable degradation. This study highlights a possible common denominator between two different RTT variants (MECP2 and CDKL5) and a possible common future therapeutic target.

Published
2015

42. GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Author

Livide, Gabriella, Patriarchi, Tommaso, Amenduni, Mariangela, Amabile, Sonia, Yasui, Dag, Calcagno, Eleonora, Lo Rizzo, Caterina, De Falco, Giulia, Ulivieri, Cristina, Ariani, Francesca, Mari, Francesca, Mencarelli, Maria Antonietta, Hell, Johannes Wilhelm, Renieri, Alessandra, and Meloni, Ilaria

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Rare Diseases, Mental Health, Stem Cell Research - Induced Pluripotent Stem Cell, Neurodegenerative, Stem Cell Research, Stem Cell Research - Embryonic - Human, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Pediatric, Rett Syndrome, 2.1 Biological and endogenous factors, Aetiology, Congenital, Cells, Cultured, Female, Humans, Induced Pluripotent Stem Cells, Male, Methyl-CpG-Binding Protein 2, Mutation, Neurogenesis, Neurons, Protein Serine-Threonine Kinases, Receptors, Glutamate, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Rett syndrome is a monogenic disease due to de novo mutations in either MECP2 or CDKL5 genes. In spite of their involvement in the same disease, a functional interaction between the two genes has not been proven. MeCP2 is a transcriptional regulator; CDKL5 encodes for a kinase protein that might be involved in the regulation of gene expression. Therefore, we hypothesized that mutations affecting the two genes may lead to similar phenotypes by dysregulating the expression of common genes. To test this hypothesis we used induced pluripotent stem (iPS) cells derived from fibroblasts of one Rett patient with a MECP2 mutation (p.Arg306Cys) and two patients with mutations in CDKL5 (p.Gln347Ter and p.Thr288Ile). Expression profiling was performed in CDKL5-mutated cells and genes of interest were confirmed by real-time RT-PCR in both CDKL5- and MECP2-mutated cells. The only major change in gene expression common to MECP2- and CDKL5-mutated cells was for GRID1, encoding for glutamate D1 receptor (GluD1), a member of the δ-family of ionotropic glutamate receptors. GluD1 does not form AMPA or NMDA glutamate receptors. It acts like an adhesion molecule by linking the postsynaptic and presynaptic compartments, preferentially inducing the inhibitory presynaptic differentiation of cortical neurons. Our results demonstrate that GRID1 expression is downregulated in both MECP2- and CDKL5-mutated iPS cells and upregulated in neuronal precursors and mature neurons. These data provide novel insights into disease pathophysiology and identify possible new targets for therapeutic treatment of Rett syndrome.

Published
2015

43. Capping of the N‐terminus of PSD‐95 by calmodulin triggers its postsynaptic release

Author

Zhang, Yonghong, Matt, Lucas, Patriarchi, Tommaso, Malik, Zulfiqar A, Chowdhury, Dhrubajyoti, Park, Deborah K, Renieri, Alessandra, Ames, James B, and Hell, Johannes W

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurosciences, Animals, Calmodulin, Cells, Cultured, Disks Large Homolog 4 Protein, Fluorescence, Hippocampus, Histological Techniques, Immunoblotting, Immunoprecipitation, Intracellular Signaling Peptides and Proteins, Magnetic Resonance Spectroscopy, Membrane Proteins, Models, Neurological, Neurons, Post-Synaptic Density, Protein Conformation, Rats, calmodulin, CDKL5, dendritic spines, hippocampus, PSD-95, PSD‐95, Information and Computing Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Postsynaptic density protein-95 (PSD-95) is a central element of the postsynaptic architecture of glutamatergic synapses. PSD-95 mediates postsynaptic localization of AMPA receptors and NMDA receptors and plays an important role in synaptic plasticity. PSD-95 is released from postsynaptic membranes in response to Ca(2+) influx via NMDA receptors. Here, we show that Ca(2+)/calmodulin (CaM) binds at the N-terminus of PSD-95. Our NMR structure reveals that both lobes of CaM collapse onto a helical structure of PSD-95 formed at its N-terminus (residues 1-16). This N-terminal capping of PSD-95 by CaM blocks palmitoylation of C3 and C5, which is required for postsynaptic PSD-95 targeting and the binding of CDKL5, a kinase important for synapse stability. CaM forms extensive hydrophobic contacts with Y12 of PSD-95. The PSD-95 mutant Y12E strongly impairs binding to CaM and Ca(2+)-induced release of PSD-95 from the postsynaptic membrane in dendritic spines. Our data indicate that CaM binding to PSD-95 serves to block palmitoylation of PSD-95, which in turn promotes Ca(2+)-induced dissociation of PSD-95 from the postsynaptic membrane.

Published
2014

44. Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Author

Deltas, Constantinos, primary, Papagregoriou, Gregory, additional, Louka, Stavroula F., additional, Malatras, Apostolos, additional, Flinter, Frances, additional, Gale, Daniel P., additional, Gear, Susie, additional, Gross, Oliver, additional, Hoefele, Julia, additional, Lennon, Rachel, additional, Miner, Jeffrey H., additional, Renieri, Alessandra, additional, Savige, Judy, additional, and Turner, A. Neil, additional

Published
2023
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45. Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Author

Leoncini, Silvia, primary, Boasiako, Lidia, additional, Lopergolo, Diego, additional, Altamura, Maria, additional, Fazzi, Caterina, additional, Canitano, Roberto, additional, Grosso, Salvatore, additional, Meloni, Ilaria, additional, Baldassarri, Margherita, additional, Croci, Susanna, additional, Renieri, Alessandra, additional, Mastrangelo, Mario, additional, and De Felice, Claudio, additional

Published
2023
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46. Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

Author

Serio, Viola Bianca, primary, Palmieri, Maria, additional, Innamorato, Simona, additional, Loberti, Lorenzo, additional, Fallerini, Chiara, additional, Ariani, Francesca, additional, Antolini, Enrica, additional, Covarelli, Jasmine, additional, Vaghi, Massimo, additional, Frullanti, Elisa, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional

Published
2023
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47. Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review

Author

Ronzoni, Luisa, primary, Mureddu, Matteo, additional, Malvestiti, Francesco, additional, Moretti, Vittoria, additional, Bianco, Cristiana, additional, Periti, Giulia, additional, Baldassarri, Margherita, additional, Ariani, Francesca, additional, Carrer, Anna, additional, Pelusi, Serena, additional, Renieri, Alessandra, additional, Prati, Daniele, additional, and Valenti, Luca, additional

Published
2023
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48. Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Author

Sideropoulos, Vassilis, primary, Van Herwegen, Jo, additional, Meuleman, Ben, additional, Alessandri, Michael, additional, Alnemary, Faisal M, additional, Rad, Jamal Amani, additional, Lavenex, Pamela A Banta, additional, Bolshakov, Nikita, additional, Bölte, Sven, additional, Buffle, Paulina, additional, Cai, Ru Y, additional, Campos, Ruth, additional, Chirita-Emandi, Adela, additional, Costa, Andreia P, additional, Costanzo, Floriana, additional, Des Portes, Vincent, additional, Dukes, Daniel, additional, Faivre, Laurence, additional, Famelart, Nawelle, additional, Fisher, Marisa H, additional, Gamaiunova, Liudmilla, additional, Giannadou, Aikaterini, additional, Gupta, Rashmi, additional, Hardan, Antonio Y, additional, Houdayer-Robert, Françoise, additional, Hrncirova, Lenka, additional, Iaochite, Roberto Tadeu, additional, Jariabkova, Katarina, additional, Klein-Tasman, Bonita P, additional, Lavenex, Pierre, additional, Malik, Supriya, additional, Mari, Francesca, additional, Martinez-Castilla, Pastora, additional, Menghini, Deny, additional, Nuske, Heather J, additional, Palikara, Olympia, additional, Papon, Anouk, additional, Pegg, Robin S, additional, Pouretemad, Hamidreza, additional, Poustka, Luise, additional, Prosetzky, Ingolf, additional, Renieri, Alessandra, additional, Rhodes, Sinead M, additional, Riby, Deborah M, additional, Rossi, Massimiliano, additional, Sadeghi, Saeid, additional, Su, Xueyen, additional, Tai, Claire, additional, Tran, Michel, additional, Tynan, Fionnuala, additional, Uljarević, Mirko, additional, Van Hecke, Amy V, additional, Veiga, Guida, additional, Verloes, Alain, additional, Vicari, Stefano, additional, Werneck-Rohrer, Sonja G, additional, Zander, Eric, additional, and Samson, Andrea C, additional

Published
2023
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49. The Medical Community’s Role in Communication Strategies during Health Crises—Perspective from European Union of Medical Specialists (UEMS)

Author

Nadareishvili, Ilia, primary, Bazas, Theodore, additional, Petrosillo, Nicola, additional, Berce, Vojko, additional, Firth, John, additional, Mansilha, Armando, additional, Leventer, Mihaela, additional, Renieri, Alessandra, additional, Zampolini, Mauro, additional, and Papalois, Vassilios, additional

Published
2023
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50. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, and Boycott, Kym M

Abstract

Abstract Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

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