Pubblicazioni

Pectic enzymes as potential enhancers of ascorbic acid production through the D-galacturonate pathway in Solanaceae

2018 - PLANT SCIENCE

Rigano, Maria Manuela; Lionetti, Vincenzo; Raiola, Assunta; Bellincampi, Daniela; Barone, Amalia

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

DâAndrea, Elvira; Lagerberg, Tyra; de Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo

Interferon lambda4 polymorphism is not associated with human papillomavirus infection outcome

2018 - VIRUS GENES

Cannella, Fabiana; Scagnolari, Carolina; Statzu, Maura; Sciandra, Ilaria; Recine, Nadia; DâEttorre, Gabriella; Antonelli, Guido; Pierangeli, Alessandra

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

2018 - CLINICAL GENETICS

Dentici, Maria Lisa; Barresi, Sabina; Niceta, Marcello; Pantaleoni, Francesca; Pizzi, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Digilio, Maria Cristina

Metabolomics: Challenges and opportunities in systems biology studies

2018 - Methods in Molecular Biology

Casadei, Luca; Valerio, Mariacristina; Manetti, Cesare

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

2018 - HUMAN MUTATION

Sponziello, Marialuisa; Benvenuti, Silvia; Gentile, Alessandra; Pecce, Valeria; Rosignolo, Francesca; VirzÃ¬, Anna Rita; Milan, Melissa; Comoglio, Paolo M.; Londin, Eric; Fortina, Paolo; Barnabei, Agnese; Appetecchia, Marialuisa; Marandino, Ferdinando; Russo, Diego; Filetti, Sebastiano; Durante, Cosimo; Verrienti, Antonella

Iron Age Italic population genetics: the Piceni from Novilara (8thÃ¢ÂÂ7th century BC)

2018 - ANNALS OF HUMAN BIOLOGY

Serventi, Patrizia; Panicucci, Chiara; Bodega, Roberta; De Fanti, Sara; Sarno, Stefania; Fondevila Alvarez, Manuel; Brisighelli, Francesca; Trombetta, Beniamino; Anagnostou, Paolo; Ferri, Gianmarco; Vazzana, Antonino; Delpino, Chiara; Gruppioni, Giorgio; Luiselli, Donata; Cilli, Elisabetta

Corrigendum to âPyridoxine-5â²-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.Â·Arg116gln) mutationâ [Mol. Genet. Metab. 122/1â2 (2017) 135â142]

2018 - MOLECULAR GENETICS AND METABOLISM

di Salvo, Martino L.; Mastrangelo, Mario; NoguÃ©s, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo

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.