271 results on '"Mencarelli, Maria Antonietta"'
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2. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
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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
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- 2023
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3. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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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
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- 2023
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4. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
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Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, and Le Guyader, Gwenaël
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- 2024
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5. 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization
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Romano, Chiara, Ferranti, Silvia, Mencarelli, Maria Antonietta, Longo, Ilaria, Renieri, Alessandra, and Grosso, Salvatore
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- 2020
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6. New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
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Daga, Sergio, Donati, Francesco, Capitani, Katia, Croci, Susanna, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Fallerini, Chiara, Niccheri, Francesca, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Frullanti, Elisa, Furini, Simone, Conticello, Silvestro Giovanni, Renieri, Alessandra, and Pinto, Anna Maria
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- 2020
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7. GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
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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
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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.
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- 2015
8. PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis
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Palmieri, Maria, Baldassarri, Margherita, Fava, Francesca, Fabbiani, Alessandra, Campennì, Giuseppe Maria, Mencarelli, Maria Antonietta, Tita, Rossella, Marsili, Stefania, Renieri, Alessandra, and Frullanti, Elisa
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- 2019
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9. Regulatory variants of FOXG1 in the context of its topological domain organisation
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Mehrjouy, Mana M, Fonseca, Ana Carolina S., Ehmke, Nadja, Paskulin, Giorgio, Novelli, Antonio, Benedicenti, Francesco, Mencarelli, Maria Antonietta, Renieri, Alessandra, Busa, Tiffany, Missirian, Chantal, Hansen, Claus, Abe, Kikue Terada, Speck-Martins, Carlos Eduardo, Vianna-Morgante, Angela M., Bak, Mads, and Tommerup, Niels
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- 2018
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10. Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
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Doddato, Gabriella, primary, Fabbiani, Alessandra, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Hadjistilianou, Theodora, additional, Landi, Martino, additional, Coradeschi, Caterina, additional, Grosso, Salvatore, additional, Tomasini, Barbara, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
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- 2023
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11. Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
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Daga, Sergio, primary, Donati, Francesco, additional, Capitani, Katia, additional, Croci, Susanna, additional, Tita, Rossella, additional, Giliberti, Annarita, additional, Valentino, Floriana, additional, Benetti, Elisa, additional, Fallerini, Chiara, additional, Niccheri, Francesca, additional, Baldassarri, Margherita, additional, Mencarelli, Maria Antonietta, additional, Frullanti, Elisa, additional, Furini, Simone, additional, Conticello, Silvestro Giovanni, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional
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- 2023
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12. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Denommé-Pichon, Anne-Sophie, primary, Matalonga, Leslie, additional, de Boer, Elke, additional, Jackson, Adam, additional, Benetti, Elisa, additional, Banka, Siddharth, additional, Bruel, Ange-Line, additional, Ciolfi, Andrea, additional, Clayton-Smith, Jill, additional, Dallapiccola, Bruno, additional, Duffourd, Yannis, additional, Ellwanger, Kornelia, additional, Fallerini, Chiara, additional, Gilissen, Christian, additional, Graessner, Holm, additional, Haack, Tobias B., additional, Havlovicova, Marketa, additional, Hoischen, Alexander, additional, Jean-Marçais, Nolwenn, additional, Kleefstra, Tjitske, additional, López-Martín, Estrella, additional, Macek, Milan, additional, Mencarelli, Maria Antonietta, additional, Moutton, Sébastien, additional, Pfundt, Rolph, additional, Pizzi, Simone, additional, Posada, Manuel, additional, Radio, Francesca Clementina, additional, Renieri, Alessandra, additional, Rooryck, Caroline, additional, Ryba, Lukas, additional, Safraou, Hana, additional, Schwarz, Martin, additional, Tartaglia, Marco, additional, Thauvin-Robinet, Christel, additional, Thevenon, Julien, additional, Mau-Them, Frédéric Tran, additional, Trimouille, Aurélien, additional, Votypka, Pavel, additional, de Vries, Bert B.A., additional, Willemsen, Marjolein H., additional, Zurek, Birte, additional, Verloes, Alain, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Vissers, Lisenka E.L.M., additional, and Faivre, Laurence, additional
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- 2023
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13. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
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Breckpot, Jeroen, Vercruyssen, Marieke, Weyts, Eddy, Vandevoort, Sean, D'Haenens, Greet, Van Buggenhout, Griet, Leempoels, Lore, Brischoux-Boucher, Elise, Van Maldergem, Lionel, Renieri, Alessandra, Mencarelli, Maria Antonietta, D'Angelo, Carla, Mericq, Veronica, Hoffer, Mariette J., Tauber, Maithé, Molinas, Catherine, Castiglioni, Claudia, Brison, Nathalie, Vermeesch, Joris R., Danckaerts, Marina, Sienaert, Pascal, Devriendt, Koenraad, and Vogels, Annick
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- 2016
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14. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
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Mari, Francesca, Marozza, Annabella, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Fallerini, Chiara, Dosa, Laura, Di Marco, Chiara, Carignani, Giulia, Baldassarri, Margherita, Cianci, Paola, Vivarelli, Rossella, Vascotto, Marina, Grosso, Salvatore, Rubegni, Pietro, Caffarelli, Carla, Pretegiani, Elena, Fimiani, Michele, Garavelli, Livia, Cristofoli, Francesca, Vermeesch, Joris R., Nuti, Ranuccio, Dotti, Maria Teresa, Balestri, Paolo, Hayek, Joussef, Selicorni, Angelo, and Renieri, Alessandra
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- 2015
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15. Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
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Bruno, Lucia Pia, primary, Doddato, Gabriella, additional, Baldassarri, Margherita, additional, Rizzo, Caterina Lo, additional, Resciniti, Sara, additional, Bruttini, Mirella, additional, Mirjam, Lista, additional, Zguro, Kristina, additional, Furini, Simone, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
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- 2022
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16. The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases
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Gaggiano, Carla, primary, Vitale, Antonio, additional, Tufan, Abdurrahman, additional, Ragab, Gaafar, additional, Aragona, Emma, additional, Wiesik-Szewczyk, Ewa, additional, Ait-Idir, Djouher, additional, Conti, Giovanni, additional, Iezzi, Ludovica, additional, Maggio, Maria Cristina, additional, Cattalini, Marco, additional, Torre, Francesco La, additional, Lopalco, Giuseppe, additional, Verrecchia, Elena, additional, Paulis, Amato de, additional, Sahin, Ali, additional, Insalaco, Antonella, additional, Sfikakis, Petros P., additional, Marino, Achille, additional, Frassi, Micol, additional, Ogunjimi, Benson, additional, Opris-Belinski, Daniela, additional, Parronchi, Paola, additional, Emmi, Giacomo, additional, Shahram, Farhad, additional, Ciccia, Francesco, additional, Piga, Matteo, additional, Hernández-Rodríguez, José, additional, Pereira, Rosa Maria R., additional, Alessio, Maria, additional, Naddei, Roberta, additional, Olivieri, Alma Nunzia, additional, Giudice, Emanuela Del, additional, Sfriso, Paolo, additional, Ruscitti, Piero, additional, Gobbi, Francesca Li, additional, Kucuk, Hamit, additional, Sota, Jurgen, additional, Hussein, Mohamed A., additional, Malizia, Giuseppe, additional, Jahnz-Różyk, Karina, additional, Sari-Hamidou, Rawda, additional, Romeo, Mery, additional, Ricci, Francesca, additional, Cardinale, Fabio, additional, Iannone, Florenzo, additional, Casa, Francesca Della, additional, Natale, Marco Francesco, additional, Laskari, Katerina, additional, Giani, Teresa, additional, Franceschini, Franco, additional, Sabato, Vito, additional, Yildirim, Derya, additional, Caggiano, Valeria, additional, Hegazy, Mohamed Tharwat, additional, Marzo, Rosalba Di, additional, Kucharczyk, Aleksandra, additional, Khellaf, Ghalia, additional, Tarsia, Maria, additional, Almaghlouth, Ibrahim A., additional, Laymouna, Ahmed Hatem, additional, Mastrorilli, Violetta, additional, Dotta, Laura, additional, Benacquista, Luca, additional, Grosso, Salvatore, additional, Crisafulli, Francesca, additional, Parretti, Veronica, additional, Giordano, Heitor F., additional, Mahmoud, Ayman Abdel-Monem Ahmed, additional, Nuzzolese, Rossana, additional, Musso, Marta De, additional, Chighizola, Cecilia Beatrice, additional, Gentileschi, Stefano, additional, Morrone, Mirella, additional, Cola, Ilenia Di, additional, Spedicato, Veronica, additional, Giardini, Henrique A. Mayrink, additional, Vasi, Ibrahim, additional, Renieri, Alessandra, additional, Fabbiani, Alessandra, additional, Mencarelli, Maria Antonietta, additional, Frediani, Bruno, additional, Balistreri, Alberto, additional, Tosi, Gian Marco, additional, Fabiani, Claudia, additional, Lidar, Merav, additional, Rigante, Donato, additional, and Cantarini, Luca, additional
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- 2022
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17. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
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Pavinato, Lisa, primary, Delle Vedove, Andrea, additional, Carli, Diana, additional, Ferrero, Marta, additional, Carestiato, Silvia, additional, Howe, Jennifer L, additional, Agolini, Emanuele, additional, Coviello, Domenico A, additional, van de Laar, Ingrid, additional, Au, Ping Yee Billie, additional, Di Gregorio, Eleonora, additional, Fabbiani, Alessandra, additional, Croci, Susanna, additional, Mencarelli, Maria Antonietta, additional, Bruno, Lucia P, additional, Renieri, Alessandra, additional, Veltra, Danai, additional, Sofocleous, Christalena, additional, Faivre, Laurence, additional, Mazel, Benoit, additional, Safraou, Hana, additional, Denommé-Pichon, Anne-Sophie, additional, van Slegtenhorst, Marjon A, additional, Giesbertz, Noor, additional, van Jaarsveld, Richard H, additional, Childers, Anna, additional, Rogers, R Curtis, additional, Novelli, Antonio, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph D, additional, Scherer, Stephen W, additional, Ferrero, Giovanni Battista, additional, Wirth, Brunhilde, additional, and Brusco, Alfredo, additional
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- 2022
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18. Natural history of KBG syndrome in a large European cohort
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Loberti, Lorenzo, primary, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Doddato, Gabriella, additional, Resciniti, Sara, additional, Fava, Francesca, additional, Carullo, Michele, additional, Rahikkala, Elisa, additional, Jouret, Guillaume, additional, Menke, Leonie A, additional, Lederer, Damien, additional, Vrielynck, Pascal, additional, Ryba, Lukáš, additional, Brunetti-Pierri, Nicola, additional, Lasa-Aranzasti, Amaia, additional, Cueto-González, Anna Maria, additional, Trujillano, Laura, additional, Valenzuela, Irene, additional, Tizzano, Eduardo F, additional, Spinelli, Alessandro Mauro, additional, Bruno, Irene, additional, Currò, Aurora, additional, Stanzial, Franco, additional, Benedicenti, Francesco, additional, Lopergolo, Diego, additional, Santorelli, Filippo Maria, additional, Aristidou, Constantia, additional, Tanteles, George A, additional, Maystadt, Isabelle, additional, Tkemaladze, Tinatin, additional, Reimand, Tiia, additional, Lokke, Helen, additional, Õunap, Katrin, additional, Haanpää, Maria K, additional, Holubová, Andrea, additional, Zoubková, Veronika, additional, Schwarz, Martin, additional, Žordania, Riina, additional, Muru, Kai, additional, Roht, Laura, additional, Tihveräinen, Annika, additional, Teek, Rita, additional, Thomson, Ulvi, additional, Atallah, Isis, additional, Superti-Furga, Andrea, additional, Buoni, Sabrina, additional, Canitano, Roberto, additional, Scandurra, Valeria, additional, Rossetti, Annalisa, additional, Grosso, Salvatore, additional, Battini, Roberta, additional, Baldassarri, Margherita, additional, Mencarelli, Maria Antonietta, additional, Rizzo, Caterina Lo, additional, Bruttini, Mirella, additional, Mari, Francesca, additional, Ariani, Francesca, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional
- Published
- 2022
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19. Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome
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Daga, Sergio, Baldassarri, Margherita, Lo Rizzo, Caterina, Fallerini, Chiara, Imperatore, Valentina, Longo, Ilaria, Frullanti, Elisa, Landucci, Elisa, Massella, Laura, Pecoraro, Carmine, Garosi, Guido, Ariani, Francesca, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, and Pinto, Anna Maria
- Published
- 2018
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20. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
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Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, and Ariani, Francesca
- Published
- 2016
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21. Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
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Doddato, Gabriella, primary, Fabbiani, Alessandra, additional, Scandurra, Valeria, additional, Canitano, Roberto, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
- Published
- 2022
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22. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
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Pavinato, Lisa, Vedove, Andrea Delle, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Gregorio, Eleonora Di, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, and Mazel, Benoit
- Subjects
LANGUAGE disorders ,ATTENTION-deficit hyperactivity disorder ,NEURAL development ,PLURIPOTENT stem cells ,NEURAL circuitry - Abstract
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1 ; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated s CAPRIN1
+ / − human induced pluripotent stem cells via CRISPR–Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/− neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/− neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/− neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models. [ABSTRACT FROM AUTHOR]- Published
- 2023
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23. Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients.
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Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, and Ariani, Francesca
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- 2023
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24. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
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Bruno, Lucia Pia, primary, Doddato, Gabriella, additional, Valentino, Floriana, additional, Baldassarri, Margherita, additional, Tita, Rossella, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Mari, Francesca, additional, Pinto, Anna Maria, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Lamacchia, Vittoria, additional, Carrer, Anna, additional, Caputo, Valentina, additional, Granata, Stefania, additional, Benetti, Elisa, additional, Zguro, Kristina, additional, Furini, Simone, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
- Published
- 2021
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25. Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
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Doddato, Gabriella, primary, Fabbiani, Alessandra, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Hadjistilianou, Theodora, additional, Landi, Martino, additional, Coradeschi, Caterina, additional, Grosso, Salvatore, additional, Tomasini, Barbara, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
- Published
- 2021
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26. Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics
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Cupaioli, Francesca Anna, primary, Fallerini, Chiara, additional, Mencarelli, Maria Antonietta, additional, Perticaroli, Valentina, additional, Filippini, Virginia, additional, Mari, Francesca, additional, Renieri, Alessandra, additional, and Mezzelani, Alessandra, additional
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- 2021
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27. Novel retinal finding in a patient with 4q12 deletion
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Fruschelli, Mario, primary, Lorusso, Nicola, additional, Hadjistilianou, Theodora, additional, Mencarelli, Maria Antonietta, additional, Bruttini, Mirella, additional, Renieri, Alessandra, additional, Mandalà, Marco, additional, and Di Maggio, Alessandro, additional
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- 2021
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28. Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
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Valentino, Floriana, primary, Bruno, Lucia Pia, additional, Doddato, Gabriella, additional, Giliberti, Annarita, additional, Tita, Rossella, additional, Resciniti, Sara, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Mari, Francesca, additional, Pinto, Anna Maria, additional, Fava, Francesca, additional, Baldassarri, Margherita, additional, Fabbiani, Alessandra, additional, Lamacchia, Vittoria, additional, Benetti, Elisa, additional, Zguro, Kristina, additional, Furini, Simone, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
- Published
- 2021
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29. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
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Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, DallʼOlio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., and Radice, Paolo
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- 2015
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30. Evidence of digenic inheritance in Alport syndrome
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Mencarelli, Maria Antonietta, Heidet, Laurence, Storey, Helen, van Geel, Michel, Knebelmann, Bertrand, Fallerini, Chiara, Miglietti, Nunzia, Antonucci, Maria Fatima, Cetta, Francesco, Sayer, John A, van den Wijngaard, Arthur, Yau, Shu, Mari, Francesca, Bruttini, Mirella, Ariani, Francesca, Dahan, Karin, Smeets, Bert, Antignac, Corinne, Flinter, Frances, and Renieri, Alessandra
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- 2015
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31. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome
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Mencarelli, Maria Antonietta, Kleefstra, Tjitske, Katzaki, Eleni, Papa, Filomena Tiziana, Cohen, Monika, Pfundt, Rolph, Ariani, Francesca, Meloni, Ilaria, Mari, Francesca, and Renieri, Alessandra
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- 2009
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32. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
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Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Roche, Laurian, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd, Zimprich, Fritz, Mörzinger, Martina, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S, Klitten, Laura L., Hjalgrim, Helle, Møller, Rikke S, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Nürnberg, Peter, Sander, Thomas, Trucks, Holger, Elger, Christian E., Kleefu-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Sander, Thomas, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van
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- 2014
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33. Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA
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Livide, Gabriella, Epistolato, Maria Carmela, Amenduni, Mariangela, Disciglio, Vittoria, Marozza, Annabella, Mencarelli, Maria Antonietta, Toti, Paolo, Lazzi, Stefano, Hadjistilianou, Theodora, De Francesco, Sonia, D’Ambrosio, Alfonso, Renieri, Alessandra, and Ariani, Francesca
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- 2012
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34. Genetic mechanisms of critical illness in COVID-19
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Pairo-Castineira, Erola, Clohisey, Sara, Klaric, Lucija, Bretherick, Andrew D, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Parkinson, Nick, Fourman, Max Head, Russell, Clark D, Furniss, James, Richmond, Anne, Gountouna, Elvina, Wrobel, Nicola, Harrison, David, Wang, Bo, Yang, Wu, Meynert, Alison, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Moutsianas, Loukas, Yang, Zhijian, Zhai, Ranran, Zheng, Chenqing, Grimes, Graeme, Beale, Rupert, Millar, Jonathan, Shih, Barbara, Keating, Sean, Zechner, Marie, Haley, Chris, Porteous, David J, Hayward, Caroline, Yang, Jian, Knight, Julian, Summers, Charlotte, Shankar-Hari, Manu, Klenerman, Paul, Turtle, Lance, Antonia, Ho, Moore, Shona C, Hinds, Charles, Horby, Peter, Nichol, Alistair, Maslove, David, Ling, Lowell, Mcauley, Danny, Montgomery, Hugh, Walsh, Timothy, Pereira, Alexandre C, Renieri, Johnny, Millar, Alistair, Nichol, Tim, Walsh, Manu, Shankar-Hari, Chris, Ponting, Jen, Meikle, Paul, Finernan, Ellie, Mcmaster, Andy, Law, J Kenneth Baillie, Trevor, Paterson, Tony, Wackett, Ruth, Armstrong, Richard, Clark, Audrey, Coutts, Lorna, Donnelly, Tammy, Gilchrist, Katarzyna, Hafezi, Louise, Macgillivray, Alan, Maclean, Sarah, Mccafferty, Kirstie, Morrice, Jane, Weaver, Ceilia, Boz, Ailsa, Golightly, Mari, Ward, Hanning, Mal, Helen, Szoor-McElhinney, Adam, Brown, Ross, Hendry, Andrew, Stenhouse, Louise, Cullum, Dawn, Law, Sarah, Law, Rachel, Law, Maaike, Swets, Nicky, Day, Filip, Taneski, Esther, Duncan, Nicholas, Parkinson, Collier, D, Wood, S, Zak, A, Borra, C, Matharu, M, May, P, Alldis, Z, Mitchelmore, O, Bowles, R, Easthope, A, Bibi, F, Lancoma-Malcolm, I, Gurasashvili, J, Pheby, J, Shiel, J, Bolton, M, Patel, M, Taylor, M, Zongo, O, Ebano, P, Harding, P, Astin-Chamberlain, R, Choudhury, Y, Cox, A, Kallon, D, Burton, M, Hall, R, Blowes, S, Prime, Z, Biddle, J, Prysyazhna, O, Newman, T, Tierney, C, Kassam, J, Shankar-Hari, M, Ostermann, M, Campos, S, Bociek, A, Lim, R, Grau, N, O Jones, T, Whitton, C, Marotti, M, Arbane, G, Bonner, S, Hugill, K, Reid, J, Welters, I, Waugh, V, Williams, K, Shaw, D, J Fernandez Roman, M Lopez Martinez, Johnson, E, Waite, A, Johnston, B, Hamilton, D, Mulla, S, Mcphail, M, Smith, J, K Baillie, J, Barclay, L, Hope, D, Mcculloch, C, Mcquillan, L, Clark, S, Singleton, J, Priestley, K, Rea, N, Callaghan, M, Campbell, R, Andrew, G, Marshall, L, Mckechnie, S, Hutton, P, Bashyal, A, Davidson, N, Summers, C, Polgarova, P, Stroud, K, Pathan, N, Elston, K, Agrawal, S, Battle, C, Newey, L, Rees, T, Harford, R, Brinkworth, E, Williams, M, Murphy, C, White, I, Croft, M, Bandla, N, Gellamucho, M, Tomlinson, J, Turner, H, Davies, M, Quinn, A, Hussain, I, Thompson, C, Parker, H, Bradley, R, Griffiths, R, Scriven, J, Nilsson, A, Bates, M, Dasgin, J, Gill, J, Puxty, A, Cathcart, S, Salutous, D, Turner, L, Duffy, K, Puxty, K, Joseph, A, Herdman-Grant, R, Simms, R, Swain, A, Naranjo, A, Crowe, R, Sollesta, K, Loveridge, A, Baptista, D, Morino, E, Davey, M, Golden, D, Jones, J, J Moreno Cuesta, Haldeos, A, Bakthavatsalam, D, Vincent, R, Elhassan, M, Xavier, K, Ganesan, A, Purohit, D, Abdelrazik, M, Morgan, J, Akeroyd, L, Bano, S, Lawton, T, Warren, D, Bromley, M, Sellick, K, Gurr, L, Wilkinson, B, Nagarajan, V, Szedlak, P, Cupitt, J, Stoddard, E, Benham, L, Preston, S, Laha, S, Slawson, N, Bradshaw, Z, Brown, J, Caswell, M, Melling, S, Bamford, P, Faulkner, M, Cawley, K, Jeffrey, H, London, E, Sainsbury, H, Nagra, I, Nasir, F, Dunmore, C, Jones, R, Abraheem, A, Al-Moasseb, M, Girach, R, Padden, G, Egan, J, Brantwood, C, Alexander, P, Bradley-Potts, J, Allen, S, Felton, T, Manna, S, Farnell-Ward, S, Leaver, S, Queiroz, J, Maccacari, E, Dawson, D, C Castro Delgado, R Pepermans Saluzzio, Ezeobu, O, Ding, L, Sicat, C, Kanu, R, Durrant, G, Texeira, J, Harrison, A, Samakomva, T, Willis, H, Hopkins, B, Thrasyvoulou, L, Jackson, M, Zaki, A, Tibke, C, Bennett, S, Woodyatt, W, Kent, A, Goodwin, E, Brandwood, C, Clark, R, Smith, L, Rooney, K, Thomson, N, Rodden, N, Hughes, E, Mcglynn, D, Clark, C, Clark, P, Abel, L, Sundaram, R, Gemmell, L, Brett, M, Hornsby, J, Macgoey, P, Price, R, Digby, B, O'Neil, P, Mcconnell, P, Henderson, P, Henderson, S, Sim, M, Kennedy-Hay, S, Mcparland, C, Rooney, L, Baxter, N, Pogson, D, Rose, S, Daly, Z, Brimfield, L, K Phull, M, Hussain, M, Pogreban, T, Rosaroso, L, Salciute, E, Grauslyte, L, Brealey, D, Raith, E, Maccallum, N, Bercades, G, Hass, I, Smyth, D, Reyes, A, Martir, G, D Clement, I, Webster, K, Hays, C, Gulati, A, Hodgson, L, Margarson, M, Gomez, R, Baird, Y, Thirlwall, Y, Folkes, L, Butler, A, Meadows, E, Moore, S, Raynard, D, Fox, H, Riddles, L, King, K, Kimber, S, Hobden, G, Mccarthy, A, Cannons, V, Balagosa, I, Chadbourn, I, Gardner, A, Horner, D, Mclaughlanv, D, Charles, B, Proudfoot, N, Marsden, T, Mcmorrow, L, Blackledge, B, Pendlebury, J, Harvey, A, Apetri, E, Basikolo, C, Catlow, L, Doonan, R, Knowles, K, Lee, S, Lomas, D, Lyons, C, Perez, J, Poulaka, M, Slaughter, M, Slevin, K, Thomas, 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L., Johnson, E., Waite, A., Johnston, B., Hamilton, D., Mulla, S., Mcphail, M., Smith, J., Barclay, L., Hope, D., Mcculloch, C., Mcquillan, L., Clark, S., Singleton, J., Priestley, K., Rea, N., Callaghan, M., Campbell, R., Andrew, G., Marshall, L., Mckechnie, S., Hutton, P., Bashyal, A., Davidson, N., Polgarova, P., Stroud, K., Pathan, N., Elston, K., Agrawal, S., Battle, C., Newey, L., Rees, T., Harford, R., Brinkworth, E., Williams, M., Murphy, C., White, I., Croft, M., Bandla, N., Gellamucho, M., Tomlinson, J., Turner, H., Davies, M., Quinn, A., Hussain, I., Thompson, C., Parker, H., Bradley, R., Griffiths, R., Scriven, J., Nilsson, A., Bates, M., Dasgin, J., Gill, J., Puxty, A., Cathcart, S., Salutous, D., Turner, L., Duffy, K., Puxty, K., Joseph, A., Herdman-Grant, R., Simms, R., Swain, A., Naranjo, A., Crowe, R., Sollesta, K., Loveridge, A., Baptista, D., Morino, E., Davey, M., Golden, D., Jones, J., Moreno Cuesta, J., Haldeos, A., Bakthavatsalam, D., Vincent, R., Elhassan, M., Xavier, K., Ganesan, A., Purohit, D., Abdelrazik, M., Morgan, J., Akeroyd, L., Bano, S., Lawton, T., Warren, D., Bromley, M., Sellick, K., Gurr, L., Wilkinson, B., Nagarajan, V., Szedlak, P., Cupitt, J., Stoddard, E., Benham, L., Preston, S., Laha, S., Slawson, N., Bradshaw, Z., Brown, J., Caswell, M., Melling, S., Bamford, P., Faulkner, M., Cawley, K., Jeffrey, H., London, E., Sainsbury, H., Nagra, I., Nasir, F., Dunmore, C., Jones, R., Abraheem, A., Al-Moasseb, M., Girach, R., Padden, G., Egan, J., Brantwood, C., Alexander, P., Bradley-Potts, J., Allen, S., Felton, T., Manna, S., Farnell-Ward, S., Leaver, S., Queiroz, J., Maccacari, E., Dawson, D., Delgado, C. C., Saluzzio, R. P., Ezeobu, O., Ding, L., Sicat, C., Kanu, R., Durrant, G., Texeira, J., Harrison, A., Samakomva, T., Willis, H., Hopkins, B., Thrasyvoulou, L., Jackson, M., Zaki, A., Tibke, C., Bennett, S., Woodyatt, W., Kent, A., Goodwin, E., Brandwood, C., Smith, L., Rooney, K., Thomson, N., Rodden, N., Hughes, E., Mcglynn, D., Clark, C., Clark, P., Abel, L., Sundaram, R., Gemmell, L., Brett, M., Hornsby, J., Macgoey, P., Price, R., Digby, B., O'Neil, P., Mcconnell, P., Henderson, P., Henderson, S., Sim, M., Kennedy-Hay, S., Mcparland, C., Rooney, L., Baxter, N., Pogson, D., Rose, S., Daly, Z., Brimfield, L., Phull, M. K., Hussain, M., Pogreban, T., Rosaroso, L., Salciute, E., Grauslyte, L., Brealey, D., Raith, E., Maccallum, N., Bercades, G., Hass, I., Smyth, D., Reyes, A., Martir, G., Clement, I. 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S., Bogaert, D., Chand, M., Cooke, G. S., Docherty, A. B., Dunning, J., da Silva Filipe, A., Fletcher, T., Green, C. A., Harrison, E. M., Hiscox, J. A., Ho, A. Y. W., Horby, P. W., Ijaz, S., Khoo, S., Lim, W. S., Mentzer, A. J., Merson, L., Meynert, A. M., Noursadeghi, M., Palmarini, M., Paxton, W. A., Pollakis, G., Price, N., Rambaut, A., Robertson, D. L., Sancho-Shimizu, V., Scott, J. T., de Silva, T., Sigfrid, L., Solomon, T., Sriskandan, S., Stuart, D., Tedder, R. S., Thomson, E. C., Thompson, A. A. R., Thwaites, R. S., Turtle, L. C. W., Zambon, M., Hardwick, H., Donohue, C., Lyons, R., Norman, L., Pius, R., Drake, T. M., Fairfield, C. J., Knight, S. R., Mclean, K. A., Murphy, D., Shaw, C. A., Dalton, J., Girvan, M., Saviciute, E., Roberts, S., Harrison, J., Marsh, L., Connor, M., Halpin, S., Gamble, C., Leeming, G., Wham, M., Greenhalf, W., Shaw, V., Mcdonald, S., Ganna, A., Sulem, P., van Heel, D. A., Cordioli, M., Sveinbjornsson, G., Niemi, M. E. K., Shelton, J. F., Shastri, A. J., Ye, C., Weldon, C. H., Filshtein-Sonmez, T., Coker, D., Symons, A., Esparza-Gordillo, J., Aslibekyan, S., Auton, A., Krieger, J. E., Marques, E., Jannes, C. E., Mari, F., Daga, S., Baldassarri, M., Benetti, E., Furini, S., Fallerini, C., Fava, F., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Pinto, A. M., Frullanti, E., Mencarelli, M. A., Rizzo, C. L., Montagnani, F., Di Sarno, L., Tommasi, A., Palmieri, M., Emiliozzi, A., Fabbiani, M., Rossetti, B., Zanelli, G., Bargagli, E., Bergantini, L., D'Alessandro, M., Cameli, P., Bennet, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Vaghi, M., D'Arminio Monforte, A., Merlini, E., Mondelli, M. U., Mantovani, S., Ludovisi, S., Girardis, M., Venturelli, S., Sita, M., Cossarizza, A., Antinori, A., Vergori, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, M. E., Magro, P., Zanella, I., Della Monica, M., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Valente, S., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Baratti, S., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Crotti, L., Picchiotti, N., Gori, M., Gabbi, C., Sanarico, M., Ceri, S., Pinoli, P., Raimondi, F., Biscarini, F., Stella, A., Shen, X., Ponting, C. P., Fawkes, A., Tenesa, A., Caulfield, M., Scott, R., Rowan, K., Murphy, L., Openshaw, P. J. M., Semple, M. G., Vitart, V., and Wilson, J. F.
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0301 basic medicine ,Male ,CCR2 ,Chromosomes, Human, Pair 21 ,Genome-wide association study ,Receptor, Interferon alpha-beta ,Disease ,Bioinformatics ,Genome-wide association studies ,23andMe Investigators ,Interferon alpha-beta ,0302 clinical medicine ,Receptors ,2',5'-Oligoadenylate Synthetase ,Pair 12 ,genetics ,Lung ,BRACOVID Investigators ,Multidisciplinary ,GenOMICC Investigators ,Tyrosine kinase 2 ,030220 oncology & carcinogenesis ,Multigene Family ,Medical genetics ,Female ,Dipeptidyl-Peptidases and Tripeptidyl-Peptidase ,5'-Oligoadenylate Synthetase ,Human ,Receptor ,medicine.medical_specialty ,Critical Care ,Receptors, CCR2 ,General Science & Technology ,Critical Illness ,Chromosomes ,03 medical and health sciences ,Intensive care ,Mendelian randomization ,Immunogenetics ,medicine ,Humans ,Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ,Gen-COVID Investigators ,Inflammation ,TYK2 Kinase ,Chromosomes, Human, Pair 12 ,Pair 19 ,SARS-CoV-2 ,business.industry ,Drug Repositioning ,COVID-19 ,United Kingdom ,COVID-19 Human Genetics Initiative ,030104 developmental biology ,Viral infection ,Chromosomes, Human, Pair 19 ,Genome-Wide Association Study ,Pharmacogenomics ,ISARICC Investigators ,Pair 21 ,2' ,business - Abstract
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079,P=1.65×10−8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1,OAS2andOAS3); on chromosome 19p13.2 (rs74956615,P=2.3×10−8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069,P=3.98× 10−12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757,P=4.99×10−8) in the interferon receptor geneIFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression ofIFNAR2, or high expression ofTYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte–macrophage chemotactic receptorCCR2is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice.
- Published
- 2020
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35. Private inherited microdeletion/microduplications: Implications in clinical practice
- Author
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Mencarelli, Maria Antonietta, Katzaki, Eleni, Papa, Filomena Tiziana, Sampieri, Katia, Caselli, Rossella, Uliana, Vera, Pollazzon, Marzia, Canitano, Roberto, Mostardini, Rosa, Grosso, Salvatore, Longo, Ilaria, Ariani, Francesca, Meloni, Ilaria, Hayek, Josef, Balestri, Paolo, Mari, Francesca, and Renieri, Alessandra
- Published
- 2008
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36. Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene
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Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., and Larizza, Lidia
- Subjects
Chromosome mapping -- Usage ,Gene mutations -- Analysis ,Italians -- Genetic aspects ,Neutropenia -- Genetic aspects ,Neutropenia -- Diagnosis ,Neutropenia -- Care and treatment ,Biological sciences - Abstract
A study uses targeted next-generation sequencing and autozygosity mapping on an inbred Italian family to identify the disease genes in members affected with the rare autosomal-recessive genodermatosis Clericuzio-type poikiloderma with neutropenia (PN). Findings reveal that two deleterious mutations in the C16orf57 gene are associated with PN in the affected individuals.
- Published
- 2010
37. SPTBN5 , Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
- Author
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Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, and Khan, Shahid Niaz
- Subjects
DEVELOPMENTAL delay ,AUTISM spectrum disorders ,GENETIC variation ,NEUROLOGICAL disorders ,SEIZURES (Medicine) ,INTELLECTUAL disabilities - Abstract
Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2 , and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5 -associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5. [ABSTRACT FROM AUTHOR]
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- 2022
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38. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
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Baldassarri, Margherita, primary, Picchiotti, Nicola, additional, Fava, Francesca, additional, Fallerini, Chiara, additional, Benetti, Elisa, additional, Daga, Sergio, additional, Valentino, Floriana, additional, Doddato, Gabriella, additional, Furini, Simone, additional, Giliberti, Annarita, additional, Tita, Rossella, additional, Amitrano, Sara, additional, Bruttini, Mirella, additional, Croci, Susanna, additional, Meloni, Ilaria, additional, Pinto, Anna Maria, additional, Iuso, Nicola, additional, Gabbi, Chiara, additional, Sciarra, Francesca, additional, Venneri, Mary Anna, additional, Gori, Marco, additional, Sanarico, Maurizio, additional, Crawley, Francis P., additional, Pagotto, Uberto, additional, Fanelli, Flaminia, additional, Mezzullo, Marco, additional, Dominguez-Garrido, Elena, additional, Planas-Serra, Laura, additional, Schlüter, Agatha, additional, Colobran, Roger, additional, Soler-Palacin, Pere, additional, Lapunzina, Pablo, additional, Tenorio, Jair, additional, Pujol, Aurora, additional, Castagna, Maria Grazia, additional, Marcelli, Marco, additional, Isidori, Andrea M., additional, Renieri, Alessandra, additional, Frullanti, Elisa, additional, Mari, Francesca, additional, Montagnani, Francesca, additional, Sarno, Laura Di, additional, Tommasi, Andrea, additional, Palmieri, Maria, additional, Fabbiani, Massimiliano, additional, Rossetti, Barbara, additional, Zanelli, Giacomo, additional, Sestini, Fausta, additional, Bergantini, Laura, additional, D'Alessandro, Miriana, additional, Cameli, Paolo, additional, Bennett, David, additional, Anedda, Federico, additional, Marcantonio, Simona, additional, Scolletta, Sabino, additional, Franchi, Federico, additional, Mazzei, Maria Antonietta, additional, Guerrini, Susanna, additional, Conticini, Edoardo, additional, Cantarini, Luca, additional, Frediani, Bruno, additional, Tacconi, Danilo, additional, Feri, Marco, additional, Donati, Alice, additional, Guidelli, Luca, additional, Spargi, Genni, additional, Corridi, Marta, additional, Nencioni, Cesira, additional, Croci, Leonardo, additional, Caldarelli, Gian Piero, additional, Spagnesi, Maurizio, additional, Piacentini, Paolo, additional, Desanctis, Elena, additional, Cappelli, Silvia, additional, Canaccini, Anna, additional, Verzuri, Agnese, additional, Anemoli, Valentina, additional, Ognibene, Agostino, additional, Vaghi, Massimo, additional, Monforte, Antonella D'Arminio, additional, Merlini, Esther, additional, Miraglia, Federica Gaia, additional, Mondelli, Mario Umberto, additional, Mantovani, Stefania, additional, Girardis, Massimo, additional, Venturelli, Sophie, additional, Sita, Marco, additional, Cossarizza, Andrea, additional, Antinori, Andrea, additional, Vergori, Alessandra, additional, Emiliozzi, Arianna, additional, Rusconi, Stefano, additional, Siano, Matteo, additional, Gabrieli, Arianna, additional, Riva, Agostino, additional, Francisci, Daniela, additional, Schiaroli, Elisabetta, additional, Paciosi, Francesco, additional, Scotton, Pier Giorgio, additional, Andretta, Francesca, additional, Panese, Sandro, additional, Baratti, Stefano, additional, Scaggiante, Renzo, additional, Gatti, Francesca, additional, Parisi, Saverio Giuseppe, additional, Castelli, Francesco, additional, Quiros-Roldan, Eugenia, additional, Antoni, Melania Degli, additional, Zanella, Isabella, additional, Monica, Matteo Della, additional, Piscopo, Carmelo, additional, Capasso, Mario, additional, Russo, Roberta, additional, Andolfo, Immacolata, additional, Iolascon, Achille, additional, Fiorentino, Giuseppe, additional, Carella, Massimo, additional, Castori, Marco, additional, Merla, Giuseppe, additional, Aucella, Filippo, additional, Raggi, Pamela, additional, Marciano, Carmen, additional, Perna, Rita, additional, Bassetti, Matteo, additional, Biagio, Antonio Di, additional, Sanguinetti, Maurizio, additional, Masucci, Luca, additional, Valente, Serafina, additional, Mencarelli, Maria Antonietta, additional, Rizzo, Caterina Lo, additional, Bargagli, Elena, additional, Mandalà, Marco, additional, Giorli, Alessia, additional, Salerni, Lorenzo, additional, Zucchi, Patrizia, additional, Parravicini, Pierpaolo, additional, Menatti, Elisabetta, additional, Trotta, Tullio, additional, Giannattasio, Ferdinando, additional, Coiro, Gabriella, additional, Lena, Fabio, additional, Coviello, Domenico A., additional, Mussini, Cristina, additional, Bosio, Giancarlo, additional, Martinelli, Enrico, additional, Mancarella, Sandro, additional, Tavecchia, Luisa, additional, Crotti, Lia, additional, and Parati, Gianfranco, additional
- Published
- 2021
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39. IQSEC2disorder: A new disease entity or a Rett spectrum continuum?
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Lopergolo, Diego, primary, Privitera, Flavia, additional, Castello, Giuseppe, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Pinto, Anna Maria, additional, Ariani, Francesca, additional, Currò, Aurora, additional, Lamacchia, Vittoria, additional, Canitano, Roberto, additional, Vaghi, Elisabetta, additional, Ferrarini, Alessandra, additional, Baltodano, Gerardo Mejia, additional, Lederer, Damien, additional, Van Maldergem, Lionel, additional, Serrano, Mercedes, additional, Pineda, Mercè, additional, Fons‐Estupina, Maria Del Carmen, additional, Van Esch, Hilde, additional, Breckpot, Jeroen, additional, Kumps, Candy, additional, Callewaert, Bert, additional, Mueller, Sabrina, additional, Ramelli, Gian Paolo, additional, Armstrong, Judith, additional, Renieri, Alessandra, additional, and Mari, Francesca, additional
- Published
- 2021
- Full Text
- View/download PDF
40. FOXG1variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
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Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, Le Guyader, Gwenaël, Thauvin‐Robinet, Christel, Philippe, Christophe, and Faivre, Laurence
- Abstract
Since 2008, FOXG1haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next‐generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype–phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1variant and improve the interpretation of new variants identified with genomic sequencing.
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- 2024
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- View/download PDF
41. FOXG1 is responsible for the congenital variant of Rett syndrome
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Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Buoni, Sabrina, Pollazzon, Marzia, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, and Renieri, Alessandra
- Subjects
Gene mutations -- Analysis ,Rett syndrome -- Genetic aspects ,Genetic transcription -- Analysis ,Telencephalon -- Research ,Biological sciences - Abstract
Report is presented on the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain specific transcriptional repressor that is essential for early development of the telencephalon.
- Published
- 2008
42. Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
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Squillaro, Tiziana, Cambi, Franca, Ciacci, Giuseppe, Rossi, Simone, Ulivelli, Monica, Malandrini, Alessandro, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, and Ariani, Francesca
- Published
- 2007
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- View/download PDF
43. Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations
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Sampieri, Katia, Hadjistilianou, Theodora, Mari, Francesca, Speciale, Caterina, Mencarelli, Maria Antonietta, Cetta, Francesco, Manoukian, Siranoush, Peissel, Bernard, Giachino, Daniela, Pasini, Barbara, Acquaviva, Antonio, Caporossi, Aldo, Frezzotti, Renato, Renieri, Alessandra, and Bruttini, Mirella
- Published
- 2006
- Full Text
- View/download PDF
44. Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers
- Author
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Palmieri, Maria, primary, Baldassarri, Margherita, additional, Iuso, Nicola, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Cetta, Francesco, additional, Fallerini, Chiara, additional, Tita, Rossella, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Frullanti, Elisa, additional
- Published
- 2020
- Full Text
- View/download PDF
45. Periventricular Heterotopia With White Matter Abnormalities Associated With 6p25 Deletion
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Cellini, Elena, Disciglio, Vittoria, Novara, Francesca, Barkovich, James A., Mencarelli, Maria Antonietta, Hayek, Joussef, Renieri, Alessandra, Zuffardi, Orsetta, and Guerrini, Renzo
- Published
- 2012
- Full Text
- View/download PDF
46. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Author
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Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Leeuw, Nicole, de Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Gomez, Sergi Villatoro, Walha, Faida, Wu, Bai-lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, de Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, Moustafa, Julia S. El-Sayed, Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Helas, Géraldine Joly, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Magnusson, Pall, Marshall, Christian, Mathieu-Dramard, Michèle, McCarthy, Mark I., Meitinger, Thomas, Mencarelli, Maria Antonietta, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Ndiaye, Ndeye Coumba, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Ramelli, Gian Paolo, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, van Binsbergen, Ellen, Van der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., and Froguel, Philippe
- Published
- 2011
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47. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability
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Mencarelli, Maria Antonietta, Tassini, Maria, Pollazzon, Marzia, Vivi, Antonio, Calderisi, Marco, Falco, Michele, Fichera, Marco, Monti, Lucia, Buoni, Sabrina, Mari, Francesca, Engelke, Udo, Wevers, Ron A., Hayek, Joussef, and Renieri, Alessandra
- Published
- 2011
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48. Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
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Frezzotti, Paolo, Pescucci, Chiara, Papa, Filomena Tiziana, Iester, Michele, Mittica, Vincenzo, Motolese, Ilaria, Peruzzi, Sabrina, Artuso, Rosangela, Longo, Ilaria, Mencarelli, Maria Antonietta, Mittica, Pietro, Motolese, Eduardo, and Renieri, Alessandra
- Published
- 2011
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49. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
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Matalonga, Leslie, primary, Laurie, Steven, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Mereu, Elisabetta, additional, Bullich, Gemma, additional, Thompson, Rachel, additional, Horvath, Rita, additional, Pérez-Jurado, Luis, additional, Riess, Olaf, additional, Gut, Ivo, additional, van Ommen, Gert-Jan, additional, Lochmüller, Hanns, additional, Beltran, Sergi, additional, Renieri, Alessandra, additional, Dursun, Ali, additional, Matilla-Duenas, Antoni, additional, Cormand, Bru, additional, Rivolta, Carlo, additional, Ayuso, Carmen, additional, Espinós, Carmen, additional, Scerri, Christian, additional, Yalnizoglu, Dilek, additional, Soler, Doriette, additional, Morava, Eva, additional, Barbetti, Fabrizio, additional, Forzano, Francesca, additional, Mari, Francesca, additional, Muntoni, Francesco, additional, Tort, Frederic, additional, Houlden, Henry James, additional, Tejada, Maria-Isabel, additional, Senderek, Jan, additional, Benitez, Javier, additional, De La Calle, Javier Corral, additional, Serra, Jordi, additional, Millán, José Ma, additional, Segovia, Jose, additional, Gimeno Blanes, Juan Ramon, additional, Armstrong, Judith, additional, Ozgul, Koksal, additional, Vilarinho, Laura, additional, Montoliu, Lluis, additional, Posada, Manuel, additional, Mencarelli, Maria Antonietta, additional, Mora, Marina, additional, Bianchi, Paola, additional, Seeman, Pavel, additional, Elliott, Perry M., additional, Ferlini, Alessandra, additional, Brice, Alexis, additional, Wirth, Brunhilde, additional, Hanna, Mike, additional, Tabrizi, Sarah, additional, Klockgether, Thomas, additional, Timmerman, Vincent, additional, Straub, Volker, additional, Kurul, Semra Hiz, additional, Oktay, Yavuz, additional, Gungor, Serdal, additional, Yaramis, Ahmet, additional, Yis, Uluc, additional, Macaya, Alfons, additional, Ribes, Antonia, additional, Pujol, Aurora, additional, Lázaro, Conxi, additional, Grinberg, Daniel, additional, Tizzano, Eduardo, additional, Cardellach, Francesc, additional, Palau, Francesc, additional, Milà, Montse, additional, Gallano, Pia, additional, Artuch, Rafael, additional, MartiSeves, Ramon, additional, Villanueva, Gonzalo, additional, Vidal, Silvia, additional, Garrabou, Gloria, additional, Balcells, Susanna, additional, Urreizti, Roser, additional, López, Estrella, additional, Cuscó, Ivon, additional, Valenzuela, Irene, additional, and Sabater, Maria, additional
- Published
- 2020
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50. RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report
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Gelli, Elisa, primary, Fallerini, Chiara, additional, Valentino, Floriana, additional, Giliberti, Annarita, additional, Castiglione, Francesca, additional, Laschi, Lucrezia, additional, Palmieri, Maria, additional, Fabbiani, Alessandra, additional, Tita, Rossella, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional
- Published
- 2020
- Full Text
- View/download PDF
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