GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome s...

by Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Published 2015

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

by Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Castori, Marco, Colombi, Marina
Published 2016

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

by Jeannin, Guido, Chiarelli, Nicola, Gaggiotti, Mario, Ritelli, Marco, Maiorca, Paolo, Quinzani, Stefano, Verzeletti, Federica, Possenti, Stefano, Colombi, Marina, Cancarini, Giovanni
Published 2014

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

by Ritelli, Marco, Chiarelli, Nicola, Dordoni, Chiara, Quinzani, Stefano, Venturini, Marina, Maroldi, Roberto, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Published 2014

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

by Ritelli, Marco, Dordoni, Chiara, Venturini, Marina, Chiarelli, Nicola, Quinzani, Stefano, Traversa, Michele, Zoppi, Nicoletta, Vascellaro, Annalisa, Wischmeijer, Anita, Manfredini, Emanuela, Garavelli, Livia, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Published 2013

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a l...

by Ritelli, Marco, Chiarelli, Nicola, Dordoni, Chiara, Reffo, Elena, Venturini, Marina, Quinzani, Stefano, Monica, Matteo Della, Scarano, Gioacchino, Santoro, Giuseppe, Russo, Maria Giovanna, Calzavara-Pinton, Piergiacomo, Milanesi, Ornella, Colombi, Marina
Published 2014

MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line

by Faggi, Fiorella, Codenotti, Silvia, Poliani, Pietro Luigi, Cominelli, Manuela, Chiarelli, Nicola, Colombi, Marina, Vezzoli, Marika, Monti, Eugenio, Bono, Federica, Tulipano, Giovanni, Fiorentini, Chiara, Zanola, Alessandra, Lo, Harriet P., Parton, Robert G., Keller, Charles, Fanzani, Alessandro
Published 2015