Search Results - Giuseppe Merla

Giuseppe Merla

Giuseppe Merla is an Italian scientist who is a Full Professor of Molecular Biology at University of Naples Federico II, Naples, Italy and medical geneticist at Casa Sollievo della Sofferenza in San Giovanni Rotondo, Italy. He is the Managing Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank, a member of EuroBioBank (European Network of DNA, Cell and Tissue banks) at the Casa Sollievo della Sofferenza Hospital. Merla and his team led the discovery of a new rare genetic syndrome intellectual development disorder with cardiac arrhythmia and the gene responsible for it. Merla is also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza. Provided by Wikipedia
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  1. 1

    Rise of TRIM8: A Molecule of Duality by Utsa Bhaduri, Giuseppe Merla

    Published in Molecular Therapy: Nucleic Acids (2020-12-01)
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  2. 2

    Ubiquitination, Biotech Startups, and the Future of TRIM Family Proteins: A TRIM-Endous Opportunity by Utsa Bhaduri, Giuseppe Merla

    Published in Cells (2021-04-01)
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  3. 3

    E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis by Santina Venuto, Giuseppe Merla

    Published in Cells (2019-05-01)
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  4. 4

    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 in PLoS Computational Biology (2011-01-01)
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  5. 5

    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 in PLoS ONE (2012-01-01)
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  6. 6

    The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages by Alessandra Romagnoli, Martina Di Rienzo, Elisa Petruccioli, Carmela Fusco, Ivana Palucci, Lucia Micale, Tommaso Mazza, Giovanni Delogu, Giuseppe Merla, Delia Goletti, Mauro Piacentini, Gian Maria Fimia

    Published in Cell Death and Disease (2023-08-01)
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  7. 7

    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 in Cells (2020-07-01)
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  8. 8

    Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway by Maria Savino, Claudio Carmine Guida, Maria Nardella, Emanuele Murgo, Bartolomeo Augello, Giuseppe Merla, Salvatore De Cosmo, Antonio Fernando Savino, Roberto Tarquini, Francesco Cei, Filippo Aucella, Gianluigi Mazzoccoli

    Published in Biomedicines (2022-12-01)
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  9. 9

    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 in PLoS ONE (2012-01-01)
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  10. 10

    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 in PLoS ONE (2013-01-01)
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  11. 11

    The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis by Utsa Bhaduri, Eleonora Di Venere, Gabriella Maria Squeo, Giorgia Gemma, Francesco Tamiro, Rosario Avolio, Emanuela Senatore, Lucia Salvemini, Rosa Di Paola, Danilo Licastro, Ilaria Iacobucci, Valentina Tretola, Paolo Salerno, Antonio Feliciello, Maria Monti, Vincenzo Giambra, Giuseppe Merla

    Published in Cell Death and Disease (2025-10-01)
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  12. 12

    P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes by Ashley Golbus, Delong Liu, Mark Levin, Neelam Raja, Elisa Biamino, Maria Bedeschi, Maria Digilio, Gabriella Squeo, Roberta Villa, Joy Lynne Freeman, Sharon Osgood, Giuseppe Merla, Barbara Pober, Carolyn Mervis, Amy Roberts, Colleen Morris, Lucy Osborne, Beth Kozel

    Published in Genetics in Medicine Open (2024-01-01)
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  13. 13

    Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis by Giuseppina di Paola, Francesco Albano, Pietro Zoppoli, Daniele Bravoco, Teresa D’Amore, Elena Amendola, Valeria Lucci, Luca Roberto, Mariarita Brancaccio, Paolo Salerno, Giovanni Calice, Simona Laurino, Sabino Russi, Cristofaro De Stefano, Monica Maiello, Giuseppe Merla, Geppino Falco, Pellegrino Mazzone

    Published in Cell Communication and Signaling (2025-07-01)
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  14. 14

    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 in Orphanet Journal of Rare Diseases (2016-10-01)
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  15. 15

    Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data by Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Federica Isidori, Silvia Russo, Simone Furini, Giuseppe Merla, Fabio Coppedè, Marco Tartaglia, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Alessandro Bruselles, Tommaso Pippucci, Andrea Ciolfi, Michele Pinelli, Mario Capasso

    Published in Human Genomics (2024-11-01)
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  16. 16

    Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function by Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li-Kroeger, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, Catherine E Otten, Pierre Blanc, Jill A Rosenfeld, Debdeep Dutta, Shinya Yamamoto, Michael F Wangler, Ian A Glass, Jingheng Chen, Elizabeth Blue, Paolo Prontera, Jeremie Rosain, Sandrine Marlin, Seema R Lalani, Hugo J Bellen, Undiagnosed Diseases Network

    Published in eLife (2025-08-01)
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  17. 17

    Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome by Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel

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  18. 18

    Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features by Gabriele Martelloni, Alessio Turchi, Chiara Fallerini, Chiara Fallerini, Andrea Degl’Innocenti, Margherita Baldassarri, Margherita Baldassarri, Simona Olmi, Simone Furini, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, GEN-COVID Multicenter study, Francesca Mari, Sergio Daga, Ilaria Meloni, Mirella Bruttini, Susanna Croci, Mirjam Lista, Debora Maffeo, Elena Pasquinelli, Giulia Brunelli, Kristina Zguro, Viola Bianca Serio, Enrica Antolini, Simona Letizia Basso, Samantha Minetto, Giulia Rollo, Martina Rozza, Angela Rina, Rossella Tita, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Arianna Emiliozzi, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Maria Lorubbio, Alessandro Pancrazzi, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Raffaele Bruno, Marco Vecchia, Marcello Maffezzoni, Enrico Martinelli, Massimo Girardis, Stefano Busani, Sophie Venturelli, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Carlo Pallotto, Saverio Giuseppe Parisi, Monica Basso, Sandro Panese, Stefano Baratti, Pier Giorgio Scotton, Francesca Andretta, Mario Giobbia, Renzo Scaggiante, Francesca Gatti, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Alex Di Florio, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Cristina Mussini, Luisa Tavecchia, Lia Crotti, Gianfranco Parati, Roberto Menè, Maurizio Sanarico, Marco Gori, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Tiziana Bachetti, Maria Teresa La Rovere, Maurizio Bussotti, Serena Ludovisi, Katia Capitani, Simona Dei, Sabrina Ravaglia, Annarita Giliberti, Giulia Gori, Rosangela Artuso, Elena Andreucci, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Giulia Micheli, Marco Falcone, Donato Urso, Giusy Tiseo, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Alessio Bellucci, Marta Colaneri, Patrizia Casprini, Cristoforo Pomara, Massimiliano Esposito, Roberto Leoncini, Michele Cirianni, Lucrezia Galasso, Marco Antonio Bellini, Chiara Gabbi, Nicola Picchiotti

    Published in Frontiers in Genetics (2024-05-01)
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