Rise of TRIM8: A Molecule of Duality

by Utsa Bhaduri, Giuseppe Merla
Published 2020-12-01

E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

by Santina Venuto, Giuseppe Merla
Published 2019-05-01

Ubiquitination, Biotech Startups, and the Future of TRIM Family Proteins: A TRIM-Endous Opportunity

by Utsa Bhaduri, Giuseppe Merla
Published 2021-04-01

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

by Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William Wilson, Giuseppe Merla
Published 2018-12-01

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

by Charlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, Carmela Fusco, Sven Bergmann, Giuseppe Merla, Alexandre Reymond
Published 2011-01-01

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-Of-Function Variant in <i>KANSL1</i>

by Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, Arianna Panfili, Davide Ognibene, Gabriella Maria Squeo, Giuseppe Merla, Marcella Zollino
Published 2020-10-01

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

by Lucia Micale, Lucia Anna Muscarella, Marco Marzulli, Bartolomeo Augello, Patrizia Tritto, Leonardo D'Agruma, Leopoldo Zelante, Gioacchino Palumbo, Giuseppe Merla
Published 2009-01-01

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

by Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Published 2017-09-01

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish.

by Lucia Micale, Maria Nicla Loviglio, Marta Manzoni, Carmela Fusco, Bartolomeo Augello, Eugenia Migliavacca, Grazia Cotugno, Eugenio Monti, Giuseppe Borsani, Alexandre Reymond, Giuseppe Merla
Published 2012-01-01

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out huma...

by Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla
Published 2019-10-01

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

by Consiglia Pacelli, Iolanda Adipietro, Natascia Malerba, Gabriella Maria Squeo, Claudia Piccoli, Angela Amoresano, Gabriella Pinto, Pietro Pucci, Ji-Eun Lee, Kai Ge, Nazzareno Capitanio, Giuseppe Merla
Published 2020-07-01

Genomic and Genetic Disorders Biobank

by Carmela Fusco, Lucia Micale, Maria Teresa Pellico, Ester Valentina D'Addetta, Bartolomeo Augello, Barbara Mandriani, Pasquelena De Nittis, Dario Cocciadiferro, Natascia Malerba, Michele Sacco, Leopoldo Zelante, Giuseppe Merla
Published 2015-03-01

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.

by Carmela Fusco, Lucia Micale, Mikhail Egorov, Maria Monti, Ester Valentina D'Addetta, Bartolomeo Augello, Flora Cozzolino, Alessia Calcagnì, Andrea Fontana, Roman S Polishchuk, Gerard Didelot, Alexandre Reymond, Piero Pucci, Giuseppe Merla
Published 2012-01-01

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <i>LTBP3</i>

by Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera
Published 2021-09-01

Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease.

by Anna Latiano, Orazio Palmieri, Luca Pastorelli, Maurizio Vecchi, Theresa T Pizarro, Fabrizio Bossa, Giuseppe Merla, Bartolomeo Augello, Tiziana Latiano, Giuseppe Corritore, Alessia Settesoldi, Maria Rosa Valvano, Renata D'Incà, Laura Stronati, Vito Annese, Angelo Andriulli
Published 2013-01-01

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

by Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, Paolo Alfieri, Valentina Pes, Alessandra Vancini, Cristina Caciolo, Gabriella Maria Squeo, Natascia Malerba, Iolanda Adipietro, Antonio Novelli, Stefano Sotgiu, Renzo Gherardi, Maria Cristina Digilio, Bruno Dallapiccola, Giuseppe Merla
Published 2017-12-01

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

by Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Published 2016-10-01

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

by Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera
Published 2021-08-01

Influence of pentraxin 3 (PTX3) genetic variants on myocardial infarction risk and PTX3 plasma levels.

by Elisa Barbati, Claudia Specchia, Massimo Villella, Marco Luciano Rossi, Simona Barlera, Barbara Bottazzi, Luisa Crociati, Carmela d'Arienzo, Raffaele Fanelli, Cecilia Garlanda, Francesca Gori, Ruggiero Mango, Alberto Mantovani, Giuseppe Merla, Enrico B Nicolis, Silvia Pietri, Patrizia Presbitero, Yukio Sudo, Alessandro Villella, Maria Grazia Franzosi
Published 2012-01-01

DNA Methylation in the Diagnosis of Monogenic Diseases

by Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
Published 2020-03-01