Search Results - "Antonio Musio"

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome by Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Krantz, Ian D., Musio, Antonio

“…ABSTRACT Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation,…”
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The multifaceted roles of cohesin in cancer by Di Nardo, Maddalena, Pallotta, Maria M, Musio, Antonio

“…The cohesin complex controls faithful chromosome segregation by pairing sister chromatids after DNA replication until mitosis. In addition, it is crucial for…”
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Synthetic Lethality between Cohesin and WNT Signaling Pathways in Diverse Cancer Contexts by Pallotta, Maria Michela, Di Nardo, Maddalena, Musio, Antonio

“…Cohesin is a highly conserved ring-shaped complex involved in topologically embracing chromatids, gene expression regulation, genome compartmentalization, and…”
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes by Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J, Ramos, Feliciano J, Gómez-Puertas, Paulino, Pié, Juan

“…Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal…”
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The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer by Di Nardo, Maddalena, Astigiano, Simonetta, Baldari, Silvia, Pallotta, Maria Michela, Porta, Giovanni, Pigozzi, Simona, Antonini, Annalisa, Emionite, Laura, Frattini, Annalisa, Valli, Roberto, Toietta, Gabriele, Soddu, Silvia, Musio, Antonio

“…SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. Previous studies have established that…”
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Separase prevents genomic instability by controlling replication fork speed by Cucco, Francesco, Palumbo, Elisa, Camerini, Serena, D'Alessio, Barbara, Quarantotti, Valentina, Casella, Maria Luisa, Rizzo, Ilaria Maria, Cukrov, Dubravka, Delia, Domenico, Russo, Antonella, Crescenzi, Marco, Musio, Antonio

“…Abstract Proper chromosome segregation is crucial for preserving genomic integrity, and errors in this process cause chromosome mis-segregation, which may…”
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Cohesin mutations are synthetic lethal with stimulation of WNT signaling by Chin, Chue Vin, Antony, Jisha, Ketharnathan, Sarada, Labudina, Anastasia, Gimenez, Gregory, Parsons, Kate M, He, Jinshu, George, Amee J, Pallotta, Maria Michela, Musio, Antonio, Braithwaite, Antony, Guilford, Parry, Hannan, Ross D, Horsfield, Julia A

“…Mutations in genes encoding subunits of the cohesin complex are common in several cancers, but may also expose druggable vulnerabilities. We generated isogenic…”
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Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development by Sarogni, Patrizia, Palumbo, Orazio, Servadio, Adele, Astigiano, Simonetta, D'Alessio, Barbara, Gatti, Veronica, Cukrov, Dubravka, Baldari, Silvia, Pallotta, Maria Michela, Aretini, Paolo, Dell'Orletta, Felice, Soddu, Silvia, Carella, Massimo, Toietta, Gabriele, Barbieri, Ottavia, Fontanini, Gabriella, Musio, Antonio

“…Cancer cells are characterized by chromosomal instability (CIN) and it is thought that errors in pathways involved in faithful chromosome segregation play a…”
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Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile by Barone, Stefano, Sarogni, Patrizia, Valli, Roberto, Pallotta, Maria Michela, Silvia, Gazzi, Frattini, Annalisa, Khan, Abdul Waheed, Rapalini, Erika, Parri, Cristiana, Musio, Antonio

“…The growing trend for women to postpone childbearing has resulted in a dramatic increase in the incidence of aneuploid pregnancies. Despite the importance to…”
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A role for Separase in telomere protection by Cipressa, Francesca, Morciano, Patrizia, Bosso, Giuseppe, Mannini, Linda, Galati, Alessandra, Daniela Raffa, Grazia, Cacchione, Stefano, Musio, Antonio, Cenci, Giovanni

“…Drosophila telomeres are elongated by transposition of specialized retroelements rather than telomerase activity and are assembled independently of the…”
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AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance by Burla, Romina, Carcuro, Mariateresa, Raffa, Grazia D, Galati, Alessandra, Raimondo, Domenico, Rizzo, Angela, La Torre, Mattia, Micheli, Emanuela, Ciapponi, Laura, Cenci, Giovanni, Cundari, Enrico, Musio, Antonio, Biroccio, Annamaria, Cacchione, Stefano, Gatti, Maurizio, Saggio, Isabella

“…Telomeres are nucleoprotein complexes that protect the ends of linear chromosomes from incomplete replication, degradation and detection as DNA breaks…”
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Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome by Gil-Salvador, Marta, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Arnedo, María, Darnaude, María Teresa, Díaz de Bustamante, Aránzazu, Villares, Rebeca, Palma Milla, Carmen, Puisac, Beatriz, Musio, Antonio, Ramos, Feliciano J., Pié, Juan

“…Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism…”
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A novel, reusable, realistic neurosurgical training simulator for cerebrovascular bypass surgery: Iatrotek ® bypass simulator validation study and literature review by D'Andrea, Marcello, Musio, Antonio, Colasanti, Roberto, Mongardi, Lorenzo, Fuschillo, Dalila, Lofrese, Giorgio, Tosatto, Luigino

“…Microanastomosis is a challenging technique requiring continuous training to be mastered. Several models have been proposed, but few effectively reflect a real…”
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The multiple facets of the SMC1A gene by Musio, Antonio

“…•The SMC1A gene encodes a component of the cohesin complex which controls chromosome segregation in both mitosis and meiosis.•SMC1A participates in DNA damage…”
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Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells by Penolazzi, Letizia, Lambertini, Elisabetta, Scussel Bergamin, Leticia, Gandini, Carlotta, Musio, Antonio, De Bonis, Pasquale, Cavallo, Michele, Piva, Roberta

“…Intervertebral disc (IVD), a moderately moving joint located between the vertebrae, has a limited capacity for self-repair, and treating injured intervertebral…”
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The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases by Schrier, Samantha A., Bodurtha, Joann N., Burton, Barbara, Chudley, Albert E., Chiong, Mary Anne D., D'avanzo, Maria Gabriella, Lynch, Sally Ann, Musio, Antonio, Nyazov, Dmitriy M., Sanchez-Lara, Pedro A., Shalev, Stavit A., Deardorff, Matthew A.

“…Coffin–Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail…”
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Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018 by Kline, Antonie D., Krantz, Ian D., Bando, Masashige, Shirahige, Katsuhiko, Chea, Stephenson, Sakata, Toyonori, Rao, Suhas, Dorsett, Dale, Singh, Vijay Pratap, Gerton, Jennifer L., Horsfield, Julia A., Calof, Anne L., Katz, Olivia, Grados, Marco, Raible, Sarah, Barañano, Kristin, Lyon, Gholson, Musio, Antonio, Carrico, Cheri S., Clemens, Douglas K., Caudill, Patti, Massa, Valentina, McGill, Bryan E., Dommestrup, Aila, O'Connor, Julia, Haaland, Richard E.

“…Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation…”
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A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity by Morciano, Patrizia, Carrisi, Chiara, Capobianco, Loredana, Mannini, Linda, Burgio, Giosalba, Cestra, Gianluca, De Benedetto, Giuseppe E., Corona, Davide F.V., Musio, Antonio, Cenci, Giovanni

“…Histone acetylation plays essential roles in cell cycle progression, DNA repair, gene expression and silencing. Although the knowledge regarding the roles of…”
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Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix by Benevolo, Maria, Musio, Antonio, Vocaturo, Amina, Donà, Maria Gabriella, Rollo, Francesca, Terrenato, Irene, Carosi, Mariantonia, Pescarmona, Edoardo, Vocaturo, Giuseppe, Mottolese, Marcella

“…Claspin is a nuclear protein involved in DNA replication and damage response and is a key mediator for the S-phase checkpoint. Claspin expression is…”
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Claspin inhibition leads to fragile site expression by Focarelli, Maria Luisa, Soza, Samuela, Mannini, Linda, Paulis, Marianna, Montecucco, Alessandra, Musio, Antonio

“…Fragile sites are hot spots for sister chromatid exchanges, translocations, deletions, complex rearrangements, and gene amplification. It has been hypothesized…”
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