Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

by Nicoletta Zoppi, Nicola Chiarelli, Marco Ritelli, Marina Colombi
Published 2018-03-01

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

by Nicola Chiarelli, Marco Ritelli, Nicoletta Zoppi, Marina Colombi
Published 2019-08-01

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

by Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli, Marina Colombi
Published 2020-07-01

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

by Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Published 2019-01-01

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

by Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Published 2018-01-01

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

by Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi
Published 2019-08-01

Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome...

by Nicola Chiarelli, Nicoletta Zoppi, Marina Venturini, Daniele Capitanio, Cecilia Gelfi, Marco Ritelli, Marina Colombi
Published 2021-11-01

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Invol...

by Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
Published 2022-12-01

Expanding the Clinical and Mutational Spectrum of Recessive <i>AEBP1</i>-Related Classical-Like Ehlers-Danlos Syndrome

by Marco Ritelli, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Maria Formenti, Nicola Chiarelli, Marina Colombi
Published 2019-02-01

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

by Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Marina Venturini, Marco Castori, Marina Colombi
Published 2016-01-01

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heteroz...

by Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Published 2015-03-01

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 Fiorella Faggi, Silvia Codenotti, Pietro Luigi Poliani, Manuela Cominelli, Nicola Chiarelli, Marina Colombi, Marika Vezzoli, Eugenio Monti, Federica Bono, Giovanni Tulipano, Chiara Fiorentini, Alessandra Zanola, Harriet P Lo, Robert G Parton, Charles Keller, Alessandro Fanzani
Published 2015-01-01

GLUT10—Lacking in Arterial Tortuosity Syndrome—Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

by Alessandra Gamberucci, Paola Marcolongo, Csilla E. Németh, Nicoletta Zoppi, András Szarka, Nicola Chiarelli, Tamás Hegedűs, Marco Ritelli, Giulia Carini, Andy Willaert, Bert L. Callewaert, Paul J. Coucke, Angiolo Benedetti, Éva Margittai, Rosella Fulceri, Gábor Bánhegyi, Marina Colombi
Published 2017-08-01