Pubblicazioni

A possible role for selenoprotein glutathione peroxidase (GPx1) and thioredoxin reductases (TrxR1) in thyroid cancer. Our experience in thyroid surgery

2018 - CANCER CELL INTERNATIONAL

Metere, Alessio; Frezzotti, Francesca; Graves, Claire Elizabeth; Vergine, Massimo; DE LUCA, Alessandro; Pietraforte, Donatella; Giacomelli, Laura

SEIPIN proteins mediate lipid droplet biogenesis to promote pollen transmission and reduce seed dormancy

2018 - PLANT PHYSIOLOGY

Taurino, Marco; Costantini, Sara; De Domenico, Stefania; Stefanelli, Francesco; Ruano, Guillermo; Delgadillo, MarÃa Otilia; SÃ¡nchez-Serrano, JosÃ© Juan; SanmartÃn, Maite; Santino, Angelo; Rojo, Enrique

KAT3B-p300 and H3AcK18/H3AcK14 levels are prognostic markers for kidney ccRCC tumor aggressiveness and target of KAT inhibitor CPTH2

2018 - CLINICAL EPIGENETICS

Cocco, Elisa; Leo, Manuela; Canzonetta, Claudia; Di Vito, Serena; Mai, Antonello; Rotili, Dante; Di Napoli, Arianna; Vecchione, Andrea; De Nunzio, Cosimo; Filetici, Patrizia; Stoppacciaro, Antonella

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

2018 - IUBMB LIFE

Montioli, Riccardo; Janson, Giacomo; Paiardini, Alessandro; Bertoldi, Mariarita; Borri Voltattorni, Carla

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Unolt, Marta; Versacci, Paolo; Anaclerio, Silvia; Lambiase, Caterina; Calcagni, Giulio; Trezzi, Matteo; Carotti, Adriano; Crowley, Terrence Blaine; Zackai, Elaine H.; Goldmuntz, Elizabeth; Gaynor, James William; Digilio, Maria Cristina; Mcdonald-Mcginn, Donna M.; Marino, Bruno

Expression analysis of HLA-E and NKG2A and NKG2C receptors points at a role for natural killer function in ankylosing spondylitis

2018 - RMD OPEN

Cauli, A; Dessole, G; Piga, M; Angioni, Mm; Pinna, S; Floris, A; Congia, M; Mascia, E; Paladini, F; Tedeschi, V; Sorrentino, R; Fiorillo, Mt; Mathieu, A.

Essentiality, conservation, evolutionary pressure and codon bias in bacterial genomes

2018 - GENE

Dilucca, Maddalena; Cimini, Giulio; Giansanti, Andrea

Living with phenylketonuria in adulthood: the PKU ATTITUDE study

2018 - MOLECULAR GENETICS AND METABOLISM REPORTS

Cazzorla, Chiara; Bensi, Giulia; Biasucci, Giacomo; Leuzzi, Vincenzo; Manti, Filippo; Musumeci, Antonella; Papadia, Francesco; Stoppioni, Vera; Tummolo, Albina; Vendemiale, Marcella; Polo, Giulia; Burlina, Alberto

Network-based approaches to explore complex biological systems towards network medicine

2018 - GENES

Fiscon, Giulia; Conte, Federica; Farina, Lorenzo; Paci, Paola

Cellular models for the serpinopathies

2018 - Methods in Molecular Biology

Fra, Annamaria; D'Acunto, Emanuela; Laffranchi, Mattia; MIRANDA BANOS, MARIA ELENA

Pharmacogenetics of oral antidiabetes drugs: Evidence for diverse signals at the IRS1 locus

2018 - PHARMACOGENOMICS JOURNAL

Prudente, S; Di Paola, R; Pezzilli, S; Garofolo, M; Lamacchia, O; Filardi, T; Mannino, Gc; Mercuri, L; Alberico, F; Scarale, Mg; Sesti, G; Morano, S; Penno, G; Cignarelli, M; Copetti, M; Trischitta, V

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

2018 - AMERICAN JOURNAL OF HUMAN GENETICS

Bauer, Christiane K.; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T.; Claps Sepulveda, Daniela J.; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency

2018 - PLOS GENETICS

Pecce, Valeria; Sponziello, Marialuisa; Damante, Giuseppe; Rosignolo, Francesca; Durante, Cosimo; Lamartina, Livia; Grani, Giorgio; Russo, Diego; di Gioia, Cira Rosaria; Filetti, Sebastiano; Verrienti, Antonella

Forcing ATGL expression in hepatocarcinoma cells imposes glycolytic rewiring through PPAR-Î±/p300-mediated acetylation of p53

2018 - ONCOGENE

Di Leo, Luca; Vegliante, Rolando; Ciccarone, Fabio; Salvatori, Illari; Scimeca, Manuel; Bonanno, Elena; Sagnotta, Andrea; Grazi, Gian Luca; Aquilano, Katia; Ciriolo, Maria Rosa

Structural and functional failure of fibrillin-1 in human diseases (Review)

2018 - INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Schrenk, Sandra; Cenzi, Carola; Bertalot, Thomas; Conconi, Maria Teresa; Di Liddo, Rosa

Clonal Analysis Delineates Transcriptional Programs of Osteogenic and Adipogenic Lineages of Adult Mouse Skeletal Progenitors

2018 - STEM CELL REPORTS

Rostovskaya, Maria; Donsante, Samantha; Sacchetti, Benedetto; Alexopoulou, Dimitra; Klemroth, Sylvia; Dahl, Andreas; Riminucci, Mara; Bianco, Paolo; Anastassiadis, Konstantinos

Inflammatory Responses and Barrier Function of Endothelial Cells Derived from Human Induced Pluripotent Stem Cells

2018 - STEM CELL REPORTS

Halaidych, Oleh V.; Freund, Christian; van den Hil, Francijna; Salvatori, Daniela C. F.; Riminucci, Mara; Mummery, Christine L.; Orlova, Valeria V.

Commentary: The histone demethylase Phf2 acts as a molecular checkpoint to prevent NAFLD progression during obesity

2018 - FRONTIERS IN GENETICS

Barbaro, Barbara; Romito, Ilaria; Alisi, Anna

MTHFR, TS and XRCC1 genetic variants may affect survival in patients with myelodysplastic syndromes treated with supportive care or azacitidine

2018 - PHARMACOGENOMICS JOURNAL

Visani, G.; Loscocco, F.; Ruzzo, A.; Galimberti, S.; Graziano, F.; Voso, M. T.; Giacomini, E.; Finelli, C.; Ciabatti, E.; Fabiani, E.; Barulli, S.; Volpe, A.; Magro, D.; Piccaluga, P.; Fuligni, F.; Vignetti, M.; Fazi, P.; Piciocchi, A.; Gabucci, E.; Rocchi, M.; Magnani, M.; Isidori, A.

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia

2018 - JOURNAL OF CLINICAL LIPIDOLOGY

Hegele, Ra; Amanda J., Berberich AJ; Ban, Mr; Wang, J; Digenio, A; Alexander, Vj; DâErasmo, L; Arca, M; Jones, A; Bruckert, E; Stroes, Es; Bergeron, J; Civeira, F; Witztum, Jl; Gaudet, D

Mycobacterium tuberculosis-induced miR-155 subverts autophagy by targeting ATG3 in human dendritic cells

2018 - PLOS PATHOGENS

Etna, Marilena P.; Sinigaglia, Alessandro; Grassi, Angela; Giacomini, Elena; Romagnoli, Alessandra; Pardini, Manuela; Severa, Martina; Cruciani, Melania; Rizzo, Fabiana; Anastasiadou, Eleni; Di Camillo, Barbara; Barzon, Luisa; Fimia, Gian Maria; Manganelli, Riccardo; Coccia, Eliana M.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

2018 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W.; Belasco, Jean B.; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H.; McDonald-McGinn, Donna M.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno

Dissecting the Functional Consequences of De Novo DNA Methylation Dynamics in Human Motor Neuron Differentiation and Physiology

2018 - CELL STEM CELL

Ziller, Michael J.; Ortega, Juan A.; Quinlan, Katharina A.; Santos, David P.; Gu, Hongcang; Martin, Eric J.; Galonska, Christina; Pop, Ramona; Maidl, Susanne; Di Pardo, Alba; Huang, Mei; Meltzer, Herbert Y.; Gnirke, Andreas; Heckman, C. J.; Meissner, Alexander; Kiskinis, Evangelos

How to assess drug resistance in cancer stem cells

2018 - Methods in Molecular Biology

De Angelis, Maria Laura; De Maria, Ruggero; Baiocchi, Marta