The human asparaginase enzyme (ASPG) inhibits growth in leukemic cells

por Belviso, Stefania, Iuliano, Rodolfo, Amato, Rosario, Perrotti, Nicola, Menniti, Miranda
Publicado 2017

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

por Rocca, Valentina, Blandino, Giovanni, D’Antona, Lucia, Iuliano, Rodolfo, Di Agostino, Silvia
Publicado 2022

The Role of MicroRNAs in Cancer Susceptibility

por Iuliano, Rodolfo, Vismara, Marco Flavio Michele, Dattilo, Vincenzo, Trapasso, Francesco, Baudi, Francesco, Perrotti, Nicola
Publicado 2013

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disa...

por Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2020

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

por Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo
Publicado 2021

Kinase Inhibitors in Genetic Diseases

por D’Antona, Lucia, Amato, Rosario, Brescia, Carolina, Rocca, Valentina, Colao, Emma, Iuliano, Rodolfo, Blazer-Yost, Bonnie L., Perrotti, Nicola
Publicado 2023

Commentary: Case report: Mesothelioma and BAP1 tumor predisposition syndrome: implications for public health

por Sassorossi, Carolina, Chiappetta, Marco, Congedo, Maria Teresa, Flamini, Sara, Campanella, Annalisa, Evangelista, Jessica, Iuliano, Rodolfo, Boccuto, Luigi, Lococo, Filippo
Publicado 2023

RANBP1 (RAN Binding Protein 1): The Missing Genetic Piece in Cancer Pathophysiology and Other Complex Diseases

por Audia, Salvatore, Brescia, Carolina, Dattilo, Vincenzo, D’Antona, Lucia, Calvano, Pierluigi, Iuliano, Rodolfo, Trapasso, Francesco, Perrotti, Nicola, Amato, Rosario
Publicado 2023

New SLC12A3 disease causative mutation of Gitelman’s syndrome

por Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma
Publicado 2016

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report

por Scalzo, Giovanna Carnovale, Carnevali, Adriano, Piccoli, Gabriele, Ceravolo, Domenico, Bruzzichessi, Donatella, Iuliano, Rodolfo, Tallerico, Rossana, Gatti, Valentina, Giannaccare, Giuseppe, Scorcia, Vincenzo
Publicado 2021

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

por Bruni, Valentina, Spoleti, Cristina Barbara, La Barbera, Andrea, Dattilo, Vincenzo, Colao, Emma, Votino, Carmela, Bellacchio, Emanuele, Perrotti, Nicola, Giglio, Sabrina, Iuliano, Rodolfo
Publicado 2021

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults

por Zagari, Maria Carmela, Chiarello, Paola, Iuliano, Stefano, D’Antona, Lucia, Rocca, Valentina, Colao, Emma, Perrotti, Nicola, Greco, Francesca, Iuliano, Rodolfo, Aversa, Antonio
Publicado 2022

RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17(+) pathological differentiation

por Brescia, Carolina, Dattilo, Vincenzo, D’Antona, Lucia, Chiarella, Emanuela, Tallerico, Rossana, Audia, Salvatore, Rocca, Valentina, Iuliano, Rodolfo, Trapasso, Francesco, Perrotti, Nicola, Amato, Rosario
Publicado 2023

SGK1 affects RAN/RANBP1/RANGAP1 via SP1 to play a critical role in pre-miRNA nuclear export: a new route of epigenomic regulation

por Dattilo, Vincenzo, D’Antona, Lucia, Talarico, Cristina, Capula, Mjriam, Catalogna, Giada, Iuliano, Rodolfo, Schenone, Silvia, Roperto, Sante, Bianco, Cataldo, Perrotti, Nicola, Amato, Rosario
Publicado 2017

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

por Vismara, Marco Favio Michele, Colao, Emma, Fabiani, Fernanda, Bombardiere, Francesco, Tamburrini, Oscar, Alessio, Caterina, Manti, Francesco, Pelaia, Gerolamo, Romeo, Pasquale, Iuliano, Rodolfo, Perrotti, Nicola
Publicado 2015

A novel ABCC6 variant causative of pseudoxanthoma elasticum

por Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2019

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy

por Paduano, Francesco, Colao, Emma, Fabiani, Fernanda, Rocca, Valentina, Dinatolo, Francesca, Dattola, Adele, D’Antona, Lucia, Amato, Rosario, Trapasso, Francesco, Baudi, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2022

A novel splice variant of the protein tyrosine phosphatase PTPRJ that encodes for a soluble protein involved in angiogenesis

por Bilotta, Anna, Dattilo, Vincenzo, D'Agostino, Sabrina, Belviso, Stefania, Scalise, Stefania, Bilotta, Mariaconcetta, Gaudio, Eugenio, Paduano, Francesco, Perrotti, Nicola, Florio, Tullio, Fusco, Alfredo, Iuliano, Rodolfo, Trapasso, Francesco
Publicado 2016

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5

por Paduano, Francesco, Colao, Emma, Grillone, Teresa, Vismara, Marco Flavio Michele, Amato, Rosario, Nisticò, Steven, Mignogna, Chiara, Dastoli, Stefano, Fabiani, Fernanda, Zucco, Rossella, Trapasso, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2021

Th17-Gene Expression Profile in Patients with Chronic Venous Disease and Venous Ulcers: Genetic Modulations and Preliminary Clinical Evidence

por Amato, Rosario, Dattilo, Vincenzo, Brescia, Carolina, D’Antona, Lucia, Iuliano, Rodolfo, Trapasso, Francesco, Perrotti, Nicola, Costa, Davide, Ielapi, Nicola, Aiello, Francesco, Provenzano, Michele, Bracale, Umberto Marcello, Andreucci, Michele, Serra, Raffaele
Publicado 2022