Sfoglia per Autore
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type
2016-01-01 Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, Marco; Colombi, Marina
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport
2016-01-01 Németh, Csilla E.; Marcolongo, Paola; Gamberucci, Alessandra; Fulceri, Rosella; Benedetti, Angiolo; Zoppi, Nicoletta; Ritelli, Marco Giuseppe; Chiarelli, Nicola; Colombi, Marina; Willaert, Andy; Callewaert, Bert L.; Coucke, Paul J.; Gróf, Pál; Nagy, Szilvia K.; Mészáros, Tamás; Bánhegyi, Gábor; Margittai, Éva
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma
2016-01-01 Codenotti, Silvia; Vezzoli, Marika; Poliani, Pietro Luigi; Cominelli, Manuela; Bono, Federica; Kabbout, Hadi; Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Zanella, Isabella; Biasiotto, Giorgio; Montanelli, Alessandro; Caimi, Luigi; Monti, Eugenio; Fanzani, Alessandro
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease?
2017-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Marcolongo, P.; Gamberucci, A.; Benedetti, A.; Németh, C. E.; Bánhegyi, G.; Colombi, Marina
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts
2017-01-01 Gamberucci, Alessandra; Marcolongo, Paola; Németh, Csilla E; Zoppi, Nicoletta; Szarka, András; Chiarelli, Nicola; Hegedűs, Tamás; Ritelli, Marco Giuseppe; Carini, Giulia; Willaert, Andy; Callewaert, Bert L; Coucke, Paul J; Benedetti, Angiolo; Margittai, Éva; Fulceri, Rosella; Bánhegyi, Gábor; Colombi, Marina
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
2017-01-01 Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients
2017-01-01 Colombi, M.; Dordoni, C.; Venturini, M.; Ciaccio, C.; Morlino, S.; Chiarelli, N.; Zanca, A.; Calzavara-Pinton, P.; Zoppi, N.; Castori, M.; Ritelli, M.
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts
2018-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
2018-01-01 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome
2018-01-01 Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina
Dermal fibroblast-to-myofibroblast transition sustained by αvβ3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders
2018-01-01 Zoppi, Nicoletta; Chiarelli, Nicola; Binetti, Silvia; Ritelli, Marco; Colombi, Marina
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts
2019-01-01 Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome
2019-01-01 Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Pezzaioli, LETIZIA CHIARA; Formenti, Anna Maria; Chiarelli, Nicola; Colombi, Marina
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes
2019-01-01 Chiarelli, N.; Ritelli, M.; Zoppi, N.; Colombi, M.
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes
2019-01-01 Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M.
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology
2020-01-01 Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
2020-01-01 Ritelli, M.; Venturini, M.; Cinquina, V.; Chiarelli, N.; Colombi, M.
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency
2020-01-01 Ritelli, M.; Palagano, E.; Cinquina, V.; Beccagutti, F.; Chiarelli, N.; Strina, D.; Hall, I. F.; Villa, A.; Sobacchi, C.; Colombi, M.
Matrix metalloproteinases inhibition by doxycycline rescues extracellular matrix organization and partly reverts myofibroblast differentiation in hypermobile ehlers-danlos syndrome dermal fibroblasts: A potential therapeutic target?
2021-01-01 Chiarelli, N.; Zoppi, N.; Venturini, M.; Capitanio, D.; Gelfi, C.; Ritelli, M.; Colombi, M.
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts
2021-01-01 Chiarelli, Nicola; Zoppi, Nicoletta; Ritelli, Marco; Venturini, Marina; Capitanio, Daniele; Gelfi, Cecilia; Colombi, Marina
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type | 1-gen-2016 | Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco Giuseppe; Venturini, Marina; Castori, Marco; Colombi, Marina | |
| Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport | 1-gen-2016 | Németh, Csilla E.; Marcolongo, Paola; Gamberucci, Alessandra; Fulceri, Rosella; Benedetti, Angiolo; Zoppi, Nicoletta; Ritelli, Marco Giuseppe; Chiarelli, Nicola; Colombi, Marina; Willaert, Andy; Callewaert, Bert L.; Coucke, Paul J.; Gróf, Pál; Nagy, Szilvia K.; Mészáros, Tamás; Bánhegyi, Gábor; Margittai, Éva | |
| Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma | 1-gen-2016 | Codenotti, Silvia; Vezzoli, Marika; Poliani, Pietro Luigi; Cominelli, Manuela; Bono, Federica; Kabbout, Hadi; Faggi, Fiorella; Chiarelli, Nicola; Colombi, Marina; Zanella, Isabella; Biasiotto, Giorgio; Montanelli, Alessandro; Caimi, Luigi; Monti, Eugenio; Fanzani, Alessandro | |
| Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? | 1-gen-2017 | Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Marcolongo, P.; Gamberucci, A.; Benedetti, A.; Németh, C. E.; Bánhegyi, G.; Colombi, Marina | |
| GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts | 1-gen-2017 | Gamberucci, Alessandra; Marcolongo, Paola; Németh, Csilla E; Zoppi, Nicoletta; Szarka, András; Chiarelli, Nicola; Hegedűs, Tamás; Ritelli, Marco Giuseppe; Carini, Giulia; Willaert, Andy; Callewaert, Bert L; Coucke, Paul J; Benedetti, Angiolo; Margittai, Éva; Fulceri, Rosella; Bánhegyi, Gábor; Colombi, Marina | |
| Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA | 1-gen-2017 | Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco | |
| Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients | 1-gen-2017 | Colombi, M.; Dordoni, C.; Venturini, M.; Ciaccio, C.; Morlino, S.; Chiarelli, N.; Zanca, A.; Calzavara-Pinton, P.; Zoppi, N.; Castori, M.; Ritelli, M. | |
| Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts | 1-gen-2018 | Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco Giuseppe; Colombi, Marina | |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations | 1-gen-2018 | Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco | |
| Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome | 1-gen-2018 | Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina | |
| Dermal fibroblast-to-myofibroblast transition sustained by αvβ3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders | 1-gen-2018 | Zoppi, Nicoletta; Chiarelli, Nicola; Binetti, Silvia; Ritelli, Marco; Colombi, Marina | |
| Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts | 1-gen-2019 | Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina | |
| Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome | 1-gen-2019 | Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Pezzaioli, LETIZIA CHIARA; Formenti, Anna Maria; Chiarelli, Nicola; Colombi, Marina | |
| Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes | 1-gen-2019 | Chiarelli, N.; Ritelli, M.; Zoppi, N.; Colombi, M. | |
| Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes | 1-gen-2019 | Ritelli, M.; Cinquina, V.; Giacopuzzi, E.; Venturini, M.; Chiarelli, N.; Colombi, M. | |
| Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology | 1-gen-2020 | Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina | |
| Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives | 1-gen-2020 | Ritelli, M.; Venturini, M.; Cinquina, V.; Chiarelli, N.; Colombi, M. | |
| Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency | 1-gen-2020 | Ritelli, M.; Palagano, E.; Cinquina, V.; Beccagutti, F.; Chiarelli, N.; Strina, D.; Hall, I. F.; Villa, A.; Sobacchi, C.; Colombi, M. | |
| Matrix metalloproteinases inhibition by doxycycline rescues extracellular matrix organization and partly reverts myofibroblast differentiation in hypermobile ehlers-danlos syndrome dermal fibroblasts: A potential therapeutic target? | 1-gen-2021 | Chiarelli, N.; Zoppi, N.; Venturini, M.; Capitanio, D.; Gelfi, C.; Ritelli, M.; Colombi, M. | |
| Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts | 1-gen-2021 | Chiarelli, Nicola; Zoppi, Nicoletta; Ritelli, Marco; Venturini, Marina; Capitanio, Daniele; Gelfi, Cecilia; Colombi, Marina |
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