Search Results - "Micale, Lucia"

AQP4 Aggregation State Is a Determinant for Glioma Cell Fate by Simone, Laura, Pisani, Francesco, Mola, Maria G, De Bellis, Manuela, Merla, Giuseppe, Micale, Lucia, Frigeri, Antonio, Vescovi, Angelo L, Svelto, Maria, Nicchia, Grazia P

“…The glial water channel protein aquaporin-4 (AQP4) forms heterotetramers in the plasma membrane made of the M23-AQP4 and M1-AQP4 isoforms. The isoform ratio…”
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Copy number variants at Williams-Beuren syndrome 7q11.23 region by Merla, Giuseppe, Brunetti-Pierri, Nicola, Micale, Lucia, Fusco, Carmela

“…Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multi-system involvement…”
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The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages by Romagnoli, Alessandra, Di Rienzo, Martina, Petruccioli, Elisa, Fusco, Carmela, Palucci, Ivana, Micale, Lucia, Mazza, Tommaso, Delogu, Giovanni, Merla, Giuseppe, Goletti, Delia, Piacentini, Mauro, Fimia, Gian Maria

“…Mycobacterium tuberculosis (Mtb) is known to evade host immune responses and persist in macrophages for long periods. A mechanism that the host uses to combat…”
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COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap by Morlino, Silvia, Micale, Lucia, Ritelli, Marco, Rohrbach, Marianne, Zoppi, Nicoletta, Vandersteen, Anthony, Mackay, Sara, Agolini, Emanuele, Cocciadiferro, Dario, Sasaki, Erina, Madeo, Annalisa, Ferraris, Alessandro, Reardon, Willie, Di Rocco, Maja, Novelli, Antonio, Grammatico, Paola, Malfait, Fransiska, Mazza, Tommaso, Hakim, Alan, Giunta, Cecilia, Colombi, Marina, Castori, Marco

“…The 2017 classification of Ehlers‐Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from…”
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TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways by Venuto, Santina, Castellana, Stefano, Monti, Maria, Appolloni, Irene, Fusilli, Caterina, Fusco, Carmela, Pucci, Piero, Malatesta, Paolo, Mazza, Tommaso, Merla, Giuseppe, Micale, Lucia

“…We recently reported TRIM8, encoding an E3 ubiquitin ligase, as a gene aberrantly expressed in glioblastoma whose expression suppresses cell growth and induces…”
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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle by Fusco, Carmela, Nardella, Grazia, Morlino, Silvia, Micale, Lucia, Tragni, Vincenzo, Agolini, Emanuele, Novelli, Antonio, Massuras, Stefania, Giambra, Vincenzo, Pierri, Ciro Leonardo, Castori, Marco

“…Heterozygous deleterious variants in SKI cause Shprintzen-Goldberg Syndrome, which is mainly characterized by craniofacial features, neurodevelopmental…”
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Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene by Micale, Lucia, Fusco, Carmela, Nardella, Grazia, Palmieri, Orazio, Latiano, Tiziana, Gioffreda, Domenica, Tavano, Francesca, Panza, Anna, Merla, Antonio, Biscaglia, Giuseppe, Gentile, Marco, Cuttitta, Antonello, Castori, Marco, Perri, Francesco, Latiano, Anna

“…Achalasia is an esophageal smooth muscle motility disorder with unknown pathogenesis. Taking into account our previous results on the downexpression of…”
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A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway by Palumbo, Pietro, Petracca, Antonio, Maggi, Roberto, Biagini, Tommaso, Nardella, Grazia, Sacco, Michele Carmine, Di Schiavi, Elia, Carella, Massimo, Micale, Lucia, Castori, Marco

“…Hartsfield syndrome (HS) is an ultrarare developmental disorder mainly featuring holoprosencephaly and ectrodactyly. It is caused by heterozygous or biallelic…”
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Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation by Fusco, Carmela, Nardella, Grazia, Augello, Bartolomeo, Boccafoschi, Francesca, Palumbo, Orazio, Fusaro, Luca, Notarangelo, Angelantonio, Barbano, Raffaela, Parrella, Paola, Annicchiarico, Giuseppina, De Meco, Carmela, Micale, Lucia, Graziano, Paolo, Castori, Marco

“…Transforming growth factor β (TGF-β) superfamily signaling pathways are ubiquitous and essential for several cellular and physiological processes. The…”
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits by Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe

“…Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients…”
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The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome by Fusco, Carmela, Micale, Lucia, Egorov, Mikhail, Monti, Maria, D'Addetta, Ester Valentina, Augello, Bartolomeo, Cozzolino, Flora, Calcagnì, Alessia, Fontana, Andrea, Polishchuk, Roman S, Didelot, Gerard, Reymond, Alexandre, Pucci, Piero, Merla, Giuseppe

“…In this study we report that, in response to proteasome inhibition, the E3-Ubiquitin ligase TRIM50 localizes to and promotes the recruitment and aggregation of…”
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Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant by Calamaio, Serena, Serzanti, Marialaura, Morlino, Silvia, Massardi, Marialuisa, Ritelli, Marco, Piovani, Giovanna, Colombi, Marina, Cortellini, Venusia, Castori, Marco, Dell'Era, Patrizia, Micale, Lucia

“…TAK1 is a serine threonine kinase that mediates signal transduction induced by TGFβ and bone morphogenetic proteins, and controls a variety of cell functions…”
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TRIM8 modulates p53 activity to dictate cell cycle arrest by Caratozzolo, Mariano Francesco, Micale, Lucia, Turturo, Maria Giuseppina, Cornacchia, Silvia, Fusco, Carmela, Marzano, Flaviana, Augello, Bartolomeo, D'Erchia, Anna Maria, Guerrini, Luisa, Pesole, Graziano, Sbisà, Elisabetta, Merla, Giuseppe, Tullo, Apollonia

“…p53 is a central hub in controlling cell proliferation. To maintain genome integrity in response to cellular stress, p53 directly regulates the transcription…”
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Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegation by Tritto, Patrizia, Palumbo, Valeria, Micale, Lucia, Marzulli, Marco, Bozzetti, Maria Pia, Specchia, Valeria, Palumbo, Gioacchino, Pimpinelli, Sergio, Berloco, Maria

“…Pol32 is an accessory subunit of the replicative DNA Polymerase δ and of the translesion Polymerase ζ. Pol32 is involved in DNA replication, recombination and…”
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Identification of p53-target genes in Danio rerio by Mandriani, Barbara, Castellana, Stefano, Rinaldi, Carmela, Manzoni, Marta, Venuto, Santina, Rodriguez-Aznar, Eva, Galceran, Juan, Nieto, M. Angela, Borsani, Giuseppe, Monti, Eugenio, Mazza, Tommaso, Merla, Giuseppe, Micale, Lucia

“…To orchestrate the genomic response to cellular stress signals, p53 recognizes and binds to DNA containing specific and well-characterized p53-responsive…”
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A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish by Micale, Lucia, Loviglio, Maria Nicla, Manzoni, Marta, Fusco, Carmela, Augello, Bartolomeo, Migliavacca, Eugenia, Cotugno, Grazia, Monti, Eugenio, Borsani, Giuseppe, Reymond, Alexandre, Merla, Giuseppe

“…Transposable elements, as major components of most eukaryotic organisms' genomes, define their structural organization and plasticity. They supply host genomes…”
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Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family by Ortore, Rocco Pio, Leone, Maria Pia, Palumbo, Orazio, Petracca, Antonio, Trecca, Eleonora M. C., D’Ecclesia, Aurelio, Vigliaroli, Ciro Lucio, Micale, Lucia, Longo, Francesco, Melchionda, Salvatore, Castori, Marco

“…Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases…”
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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis by MICALE, Lucia, GIUSEPPINA TURTURO, Maria, MERLA, Giuseppe, FUSCO, Carmela, AUGELLO, Bartolomeo, PEREZ JURADO, Luis A, IZZI, Claudia, DIGILIO, Maria Cristina, MILANI, Donatella, LAPI, Elisabetta, ZELANTE, Leopoldo

“…Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as…”
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Genomic and Genetic Disorders Biobank by Fusco, Carmela, Micale, Lucia, Pellico, Maria Teresa, D'Addetta, Ester Valentina, Augello, Bartolomeo, Mandriani, Barbara, De Nittis, Pasquelena, Cocciadiferro, Dario, Malerba, Natascia, Sacco, Michele, Zelante, Leopoldo, Merla, Giuseppe

“…The Genomic and Genetic Disorders Biobank (GGDB, formerly Genomic Disorders Biobank) was established in 2006 as an internal bioresource to the Medical Genetics…”
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Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene by Fusco, Carmela, Micale, Lucia, Castori, Marco

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