Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability
Mihailovich, Marija, Germain, Pierre-Luc, Shyti, Reinald, Pozzi, Davide, Noberini, Roberta, Liu, Yansheng, Aprile, Davide, Tenderini, Erika, Troglio, Flavia, Trattaro, Sebastiano, Fabris, Sonia, Ciptasari, Ummi, Rigoli, Marco Tullio, Caporale, Nicolò, D'Agostino, Giuseppe, Mirabella, Filippo, Vitriolo, Alessandro, Capocefalo, Daniele, Skaros, Adrianos, Franchini, Agnese Virginia, Ricciardi, Sara, Biunno, Ida, Neri, Antonino, Nadif Kasri, Nael, Bonaldi, Tiziana, Aebersold, Rudolf, Matteoli, Michela, Testa, Giuseppe
Published in The Journal of clinical investigation (15.07.2024)
Published in The Journal of clinical investigation (15.07.2024)
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Journal Article
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication
Zanella, Matteo, Vitriolo, Alessandro, Andirko, Alejandro, Martins, Pedro Tiago, Sturm, Stefanie, O'Rourke, Thomas, Laugsch, Magdalena, Malerba, Natascia, Skaros, Adrianos, Trattaro, Sebastiano, Germain, Pierre-Luc, Mihailovic, Marija, Merla, Giuseppe, Rada-Iglesias, Alvaro, Boeckx, Cedric, Testa, Giuseppe
Published in Science advances (01.12.2019)
Published in Science advances (01.12.2019)
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Journal Article
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
López-Tobón, Alejandro, Shyti, Reinald, Villa, Carlo Emanuele, Cheroni, Cristina, Fuentes-Bravo, Patricio, Trattaro, Sebastiano, Caporale, Nicolò, Troglio, Flavia, Tenderini, Erika, Mihailovich, Marija, Skaros, Adrianos, Gibson, William T, Cuomo, Alessandro, Bonaldi, Tiziana, Mercurio, Ciro, Varasi, Mario, Osborne, Lucy, Testa, Giuseppe
Published in Science advances (01.12.2023)
Published in Science advances (01.12.2023)
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Journal Article
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
Lopez-Tobon, Alejandro, Shyti, Reinald, Villa, Carlo Emanuele, Cheroni, Cristina, Fuentes-Bravo, Patricio, Trattaro, Sebastiano, Caporale, Nicolo, Troglio, Flavia, Tenderini, Erika, Mihailovich, Marija, Skaros, Adrianos, Gibson, William T, Cuomo, Alessandro, Bonaldi, Tiziana, Mercurio, Ciro, Varasi, Mario, Osborne, Lucy R, Testa, Giuseppe
Published in bioRxiv (10.10.2022)
Published in bioRxiv (10.10.2022)
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Paper
7q11.23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitability
Mihailovich, Marija, Pierre-Luc Germain, Shyti, Reinald, Pozzi, Davide, Noberini, Roberta, Liu, Yansheng, Aprile, Davide, Tenderini, Erika, Troglio, Flavia, Trattaro, Sebastiano, Fabris, Sonia, Ciptasari, Ummi, Marco Tullio Rigoli, Caporale, Nicolo, Agostino, Giuseppe D, Vitriolo, Alessandro, Capocefalo, Daniele, Skaros, Adrianos, Franchini, Agnese, Ricciardi, Sara, Biunno, Ida, Neri, Antonino, Kasri, Nael Nadif, Bonaldi, Tiziana, Aebersold, Ruedi, Matteoli, Michela, Testa, Giuseppe
Published in bioRxiv (10.10.2022)
Published in bioRxiv (10.10.2022)
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7q11.23 Syndromes Reveal BAZ1B as a Master Regulator of the Modern Human Face and Validate the Self-Domestication Hypothesis
Zanella, Matteo, Vitriolo, Alessandro, Andirko, Alejandro, Martins, Pedro T, Sturm, Stefanie, O'rourke, Thomas, Laugsch, Magdalena, Malerba, Natascia, Skaros, Adrianos, Trattaro, Sebastiano, Pierre-Luc Germain, Merla, Giuseppe, Rada-Iglesias, Alvaro, Boeckx, Cedric, Testa, Giuseppe
Published in bioRxiv (06.03.2019)
Published in bioRxiv (06.03.2019)
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