T
Tommaso Mazza
Researcher at Casa Sollievo della Sofferenza
Publications - 239
Citations - 3390
Tommaso Mazza is an academic researcher from Casa Sollievo della Sofferenza. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 27, co-authored 182 publications receiving 2390 citations. Previous affiliations of Tommaso Mazza include University of Trento & The Microsoft Research - University of Trento Centre for Computational and Systems Biology.
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Journal ArticleDOI
Mirna expression profiles identify drivers in colorectal and pancreatic cancers.
Ada Piepoli,Francesca Tavano,Massimiliano Copetti,Tommaso Mazza,Orazio Palumbo,Anna Panza,Francesco Fabio di Mola,Valerio Pazienza,Gianluigi Mazzoccoli,Giuseppe Biscaglia,Annamaria Gentile,Nicola Mastrodonato,Massimo Carella,Fabio Pellegrini,Pierluigi Di Sebastiano,Angelo Andriulli +15 more
TL;DR: MiRNA expression profiles may identify cancer-specific signatures and potentially useful biomarkers for the diagnosis of tissue specific cancers and miRNA-network analysis help identify altered miRNA regulatory networks that could play a role in tumor pathogenesis.
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing,Matan Hofree,Sehyun Kim,Eric Scott,Brett Copeland,Marta Romani,Jennifer L. Silhavy,Rasim Ozgur Rosti,Jana Schroth,Tommaso Mazza,Elide Miccinilli,Maha S. Zaki,Kathryn J. Swoboda,Joanne Milisa-Drautz,William B. Dobyns,Mohamed A Mikati,Faruk Incecik,Matloob Azam,Renato Borgatti,Romina Romaniello,Rose-Mary Boustany,Carol L. Clericuzio,Stefano D'Arrigo,Petter Strømme,Petter Strømme,Eugen Boltshauser,Franco Stanzial,M. Mirabelli-Badenier,Isabella Moroni,Enrico Bertini,Francesco Emma,Maja Steinlin,Friedhelm Hildebrandt,Colin A. Johnson,Michael Freilinger,Keith K. Vaux,Stacey Gabriel,Pedro Aza-Blanc,Susanne Heynen-Genel,Trey Ideker,Brian David Dynlacht,Ji Eun Lee,Enza Maria Valente,Joon Kim,Joseph G. Gleeson +44 more
TL;DR: A high-content genome-wide small interfering RNA screen to identify genes regulating ciliogenesis as candidates for Joubert syndrome found six families with predominantly compound heterozygous mutations in KIAA0586, an orthologue of chick Talpid3, required for ciliogenic and Sonic hedgehog signaling.
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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Sabrina Prudente,Prapaporn Jungtrakoon,Prapaporn Jungtrakoon,Antonella Marucci,Ornella Ludovico,Patinut Buranasupkajorn,Patinut Buranasupkajorn,Tommaso Mazza,Timothy Hastings,Teresa Milano,Eleonora Morini,Luana Mercuri,Diego Bailetti,Christine Mendonca,Federica Alberico,Giorgio Basile,Marta Romani,Elide Miccinilli,Antonio Pizzuti,Massimo Carella,Fabrizio Barbetti,Stefano Pascarella,Piero Marchetti,Vincenzo Trischitta,Rosa Di Paola,Alessandro Doria,Alessandro Doria +26 more
TL;DR: Two loss-of-function mutations in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 are reported to confirm the critical role of APPL1 in glucose homeostasis.
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Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis
Caterina Fusilli,Simone Migliore,Tommaso Mazza,Federica Consoli,Alessandro De Luca,Gaetano Barbagallo,Andrea Ciammola,Emilia Gatto,Martin Cesarini,José Luis Etcheverry,Virginia Parisi,Musallam Al-Oraimi,Salma Al-Harrasi,Qasem Al-Salmi,Massimo Marano,Jean Paul G. Vonsattel,Umberto Sabatini,Georg Bernhard Landwehrmeyer,Ferdinando Squitieri +18 more
TL;DR: Patients with HE juvenile Huntington's disease differ clinically from patients with LE juvenile Huntington’s disease or adult-onset Huntington's health, suggesting reclassification of this particularly aggressive form of Huntington's Disease might be required.
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Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools
Stefano Castellana,Tommaso Mazza +1 more
TL;DR: An updated review of web-based computational tools and their primary functionalities, focusing on those that are naturally prone to analyze massive variant sets, to infer some interesting similarities among their results.