E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

por Venuto, Santina, Merla, Giuseppe
Publicado en Cells (2019)

Rise of TRIM8: A Molecule of Duality

por Bhaduri, Utsa, Merla, Giuseppe
Publicado en Mol Ther Nucleic Acids (2020)

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

por Bhaduri, Utsa, Merla, Giuseppe
Publicado en Cells (2021)

The Emerging Role of Gβ Subunits in Human Genetic Diseases

por Malerba, Natascia, De Nittis, Pasquelena, Merla, Giuseppe
Publicado en Cells (2019)

DNA damage response defect in Williams-Beuren syndrome

por Guenat, David, Merla, Giuseppe, Deconinck, Eric, Borg, Christophe, Rohrlich, Pierre-Simon
Publicado en Int J Mol Med (2017)

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

por Malerba, Natascia, Towner, Shelley, Keating, Katherine, Squeo, Gabriella Maria, Wilson, William, Merla, Giuseppe
Publicado en Front Genet (2018)

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

por Henrichsen, Charlotte N., Csárdi, Gábor, Zabot, Marie-Thérèse, Fusco, Carmela, Bergmann, Sven, Merla, Giuseppe, Reymond, Alexandre
Publicado 2011

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 2008

MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis

por Danza, Katia, Summa, Simona De, Pinto, Rosamaria, Pilato, Brunella, Palumbo, Orazio, Merla, Giuseppe, Simone, Gianni, Tommasi, Stefania
Publicado en Oncotarget (2014)

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

por Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella
Publicado en Genes (Basel) (2020)

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

por Merla, Giuseppe, Howald, Cédric, Henrichsen, Charlotte N., Lyle, Robert, Wyss, Carine, Zabot, Marie-Thérèse, Antonarakis, Stylianos E., Reymond, Alexandre
Publicado 2006

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 2009

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

por Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Publicado 2014

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

por Prontera, Paolo, Rogaia, Daniela, Mencarelli, Amedea, Ottaviani, Valentina, Sallicandro, Ester, Guercini, Giorgio, Esposito, Susanna, Bersano, Anna, Merla, Giuseppe, Stangoni, Gabriela
Publicado en Int J Mol Sci (2017)

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 en J Pediatr Genet (2016)

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 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 2012

Identification of tumor-associated cassette exons in human cancer through EST-based computational prediction and experimental validation

por Valletti Alessio, Anselmo Anna, Mangiulli Marina, Boria Ilenia, Mignone Flavio, Merla Giuseppe, D'Angelo Vincenzo, Tullo Apollonia, Sbisà Elisabetta, D'Erchia Anna, Pesole Graziano
Publicado 2010-09-01

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

por Prontera, Paolo, Rogaia, Daniela, Sallicandro, Ester, Mencarelli, Amedea, Imperatore, Valentina, Squeo, Gabriella Maria, Merla, Giuseppe, Elisei, Sandro, Moretti-Ferreira, Danilo, Esposito, Susanna, Stangoni, Gabriela
Publicado en Eur J Hum Genet (2019)

GRB10 Gene and Type 2 Diabetes in Whites

por Di Paola, Rosa, Wojcik, Joanna, Succurro, Elena, Marucci, Antonella, Chandalia, Manisha, Padovano, Libera, Powers, Christine, Merla, Giuseppe, Abate, Nicola, Sesti, Giorgio, Doria, Alessandro, Trischitta, Vincenzo
Publicado 2009