Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

por Micale, Lucia, Fusco, Carmela, Augello, Bartolomeo, Napolitano, Luisa MR, Dermitzakis, Emmanouil T, Meroni, Germana, Merla, Giuseppe, Reymond, Alexandre
Publicado em 2008

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

por Micale, Lucia, Muscarella, Lucia Anna, Marzulli, Marco, Augello, Bartolomeo, Tritto, Patrizia, D'Agruma, Leonardo, Zelante, Leopoldo, Palumbo, Gioacchino, Merla, Giuseppe
Publicado em 2009

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

por Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Publicado no J Pediatr Genet (2016)

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

por Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco
Publicado no Genes (Basel) (2019)

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

por Ferrero, Giovanni Battista, Howald, Cédric, Micale, Lucia, Biamino, Elisa, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Forzano, Serena, Reymond, Alexandre, Merla, Giuseppe
Publicado em 2010

A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish

por Micale, Lucia, Loviglio, Maria Nicla, Manzoni, Marta, Fusco, Carmela, Augello, Bartolomeo, Migliavacca, Eugenia, Cotugno, Grazia, Monti, Eugenio, Borsani, Giuseppe, Reymond, Alexandre, Merla, Giuseppe
Publicado em 2012

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

por Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo, Merla, Giuseppe
Publicado em 2010

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

por 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
Publicado em 2014

Dissecting KMT2D missense mutations in Kabuki syndrome patients

por Cocciadiferro, Dario, Augello, Bartolomeo, De Nittis, Pasquelena, Zhang, Jiyuan, Mandriani, Barbara, Malerba, Natascia, Squeo, Gabriella M, Romano, Alessandro, Piccinni, Barbara, Verri, Tiziano, Micale, Lucia, Pasqualucci, Laura, Merla, Giuseppe
Publicado no Hum Mol Genet (2018)

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

por 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
Publicado no Int J Mol Sci (2020)

The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome

por 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
Publicado em 2012

Promoter methylation correlates with reduced NDRG2 expression in advanced colon tumour

por Piepoli, Ada, Cotugno, Rosa, Merla, Giuseppe, Gentile, Annamaria, Augello, Bartolomeo, Quitadamo, Michele, Merla, Antonio, Panza, Anna, Carella, Massimo, Maglietta, Rosalia, D'Addabbo, Annarita, Ancona, Nicola, Fusilli, Saverio, Perri, Francesco, Andriulli, Angelo
Publicado em 2009

Associations between Genetic Polymorphisms in IL-33, IL1R1 and Risk for Inflammatory Bowel Disease

por Latiano, Anna, Palmieri, Orazio, Pastorelli, Luca, Vecchi, Maurizio, Pizarro, Theresa T., Bossa, Fabrizio, Merla, Giuseppe, Augello, Bartolomeo, Latiano, Tiziana, Corritore, Giuseppe, Settesoldi, Alessia, Valvano, Maria Rosa, D’Incà, Renata, Stronati, Laura, Annese, Vito, Andriulli, Angelo
Publicado em 2013

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

por Lepri, Francesca Romana, Cocciadiferro, Dario, Augello, Bartolomeo, Alfieri, Paolo, Pes, Valentina, Vancini, Alessandra, Caciolo, Cristina, Squeo, Gabriella Maria, Malerba, Natascia, Adipietro, Iolanda, Novelli, Antonio, Sotgiu, Stefano, Gherardi, Renzo, Digilio, Maria Cristina, Dallapiccola, Bruno, Merla, Giuseppe
Publicado no Int J Mol Sci (2017)

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

por Micale, Lucia, Fusco, Carmela, Fontana, Andrea, Barbano, Raffaela, Augello, Bartolomeo, De Nittis, Pasquelena, Copetti, Massimiliano, Pellico, Maria Teresa, Mandriani, Barbara, Cocciadiferro, Dario, Parrella, Paola, Fazio, Vito Michele, Dimitri, Lucia Maria Cecilia, D’Angelo, Vincenzo, Novielli, Chiara, Larizza, Lidia, Daga, Antonio, Merla, Giuseppe
Publicado no BMC Cancer (2015)

Deregulated expression of cryptochrome genes in human colorectal cancer

por Mazzoccoli, Gianluigi, Colangelo, Tommaso, Panza, Anna, Rubino, Rosa, De Cata, Angelo, Tiberio, Cristiana, Valvano, Maria Rosa, Pazienza, Valerio, Merla, Giuseppe, Augello, Bartolomeo, Trombetta, Domenico, Storlazzi, Clelia Tiziana, Macchia, Gemma, Gentile, Annamaria, Tavano, Francesca, Vinciguerra, Manlio, Bisceglia, Giovanni, Rosato, Valeria, Colantuoni, Vittorio, Sabatino, Lina, Piepoli, Ada
Publicado no Mol Cancer (2016)

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

por Di Fede, Elisabetta, Massa, Valentina, Augello, Bartolomeo, Squeo, Gabriella, Scarano, Emanuela, Perri, Anna Maria, Fischetto, Rita, Causio, Francesco Andrea, Zampino, Giuseppe, Piccione, Maria, Curridori, Elena, Mazza, Tommaso, Castellana, Stefano, Larizza, Lidia, Ghelma, Filippo, Colombo, Elisa Adele, Gandini, Maria Chiara, Castori, Marco, Merla, Giuseppe, Milani, Donatella, Gervasini, Cristina
Publicado no Eur J Hum Genet (2020)

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

por L′Abbate, Alberto, Tolomeo, Doron, Cifola, Ingrid, Severgnini, Marco, Turchiano, Antonella, Augello, Bartolomeo, Squeo, Gabriella, D′Addabbo, Pietro, Traversa, Debora, Daniele, Giulia, Lonoce, Angelo, Pafundi, Mariella, Carella, Massimo, Palumbo, Orazio, Dolnik, Anna, Muehlematter, Dominique, Schoumans, Jacqueline, Van Roy, Nadine, De Bellis, Gianluca, Martinelli, Giovanni, Merla, Giuseppe, Bullinger, Lars, Haferlach, Claudia, Storlazzi, Clelia Tiziana
Publicado no Leukemia (2018)

Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

por L’Abbate, Alberto, Tolomeo, Doron, Cifola, Ingrid, Severgnini, Marco, Turchiano, Antonella, Augello, Bartolomeo, Squeo, Gabriella, D’Addabbo, Pietro, Traversa, Debora, Daniele, Giulia, Lonoce, Angelo, Pafundi, Mariella, Carella, Massimo, Palumbo, Orazio, Dolnik, Anna, Muehlematter, Dominique, Schoumans, Jacqueline, Van Roy, Nadine, De Bellis, Gianluca, Martinelli, Giovanni, Merla, Giuseppe, Bullinger, Lars, Haferlach, Claudia, Storlazzi, Clelia Tiziana
Publicado no Leukemia (2018)

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

por Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Publicado no Hum Mutat (2014)