Search Results - "Rosamilia, Francesca"

A systematic review and meta-analysis of GFAP gene variants in Alexander disease by Grossi, Alice, Rosamilia, Francesca, Carestiato, Silvia, Salsano, Ettore, Ceccherini, Isabella, Bachetti, Tiziana

“…Alexander disease (ALXDRD) is a rare neurodegenerative disorder of astrocytes resulting from pathogenic variants in the GFAP gene. The genotype-phenotype…”
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The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling by Bachetti, Tiziana, Rosamilia, Francesca, Bartolucci, Martina, Santamaria, Giuseppe, Mosconi, Manuela, Sartori, Serenella, De Filippo, Maria Rosaria, Di Duca, Marco, Obino, Valentina, Avanzini, Stefano, Mavilio, Domenico, Candiani, Simona, Petretto, Andrea, Pini Prato, Alessio, Ceccherini, Isabella, Lantieri, Francesca

“…Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis…”
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Flu and Pneumococcal Vaccine Coverage in Scleroderma Patients Still Need to Be Prompted: A Systematic Review by Rosamilia, Francesca, Noberasco, Giovanni, Olobardi, Dario, Orsi, Andrea, Icardi, Giancarlo, Lantieri, Francesca, Murdaca, Giuseppe

“…Systemic sclerosis (scleroderma, SSc) is an autoimmune connective tissue disease characterized by excessive production of collagen and multiorgan involvement…”
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Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease by Bachetti, Tiziana, Zanni, Eleonora Di, Adamo, Annalisa, Rosamilia, Francesca, Sechi, M Margherita, Solla, Paolo, Bozzo, Matteo, Ceccherini, Isabella, Sechi, GianPietro

“…Alexander's disease (AxD) is a rare, usually relentlessly progressive disorder of astroglial cells in the central nervous system related to mutations in the…”
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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core by Amico, Giulia, Hemphill, Wayne O., Severino, Mariasavina, Moratti, Claudio, Pascarella, Rosario, Bertamino, Marta, Napoli, Flavia, Volpi, Stefano, Rosamilia, Francesca, Signa, Sara, Perrino, Fred, Zedde, Marialuisa, Ceccherini, Isabella

“…The TREX1 exonuclease degrades DNA to prevent aberrant nucleic-acid sensing through the cGAS-STING pathway, and dominant Aicardi–Goutières Syndrome type 1…”
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Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening by Candiani, Simona, Carestiato, Silvia, Mack, Andreas F, Bani, Daniele, Bozzo, Matteo, Obino, Valentina, Ori, Michela, Rosamilia, Francesca, De Sarlo, Miriam, Pestarino, Mario, Ceccherini, Isabella, Bachetti, Tiziana

“…Alexander disease (AxD) is a rare astrogliopathy caused by heterozygous mutations, either inherited or arising de novo, on the glial fibrillary acid protein…”
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