Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

por Ritelli, Marco, Colombi, Marina
Publicado 2020

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

por Zoppi, Nicoletta, Chiarelli, Nicola, Ritelli, Marco, Colombi, Marina
Publicado 2018

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

por Chiarelli, Nicola, Ritelli, Marco, Zoppi, Nicoletta, Colombi, Marina
Publicado 2019

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided...

por Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Colombi, Marina
Publicado 2020

Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

por Ritelli, Marco, Cammarata‐Scalisi, Francisco, Cinquina, Valeria, Colombi, Marina
Publicado 2019

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

por Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Publicado 2015

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

por Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Publicado 2018

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

por Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Publicado 2019

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

por Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina
Publicado 2020

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

por Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina
Publicado 2019

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

por Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina
Publicado 2020

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

por Ritelli, Marco, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Publicado 2017

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

por Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
Publicado 2019

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

por Chiarelli, Nicola, Zoppi, Nicoletta, Venturini, Marina, Capitanio, Daniele, Gelfi, Cecilia, Ritelli, Marco, Colombi, Marina
Publicado 2021

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...

por Ritelli, Marco, Chiarelli, Nicola, Cinquina, Valeria, Zoppi, Nicoletta, Bertini, Valeria, Venturini, Marina, Colombi, Marina
Publicado 2022

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

por Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Pezzaioli, Letizia, Formenti, Anna Maria, Chiarelli, Nicola, Colombi, Marina
Publicado 2019

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

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

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

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

Arterial tortuosity syndrome in two Italian paediatric patients

por Ritelli, Marco, Drera, Bruno, Vicchio, Mariano, Puppini, Giovanni, Biban, Paolo, Pilati, Mara, Prioli, Maria Antonia, Barlati, Sergio, Colombi, Marina
Publicado 2009

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

por Ritelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta, Dordoni, Chiara, Quinzani, Stefano, Traversa, Michele, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Publicado 2014