Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts
<b>Background</b>: Dominant mutations in <i>COL3A1</i> are known to cause vascular Ehlers–Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-t...
Auteurs principaux: | Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marianna Maddaluno, Chiara De Leonibus, Carmine Settembre, Marina Venturini, Marina Colombi, Marco Ritelli |
---|---|
Format: | Article |
Langue: | English |
Publié: |
MDPI AG
2024-11-01
|
Collection: | Biomedicines |
Sujets: | |
Accès en ligne: | https://www.mdpi.com/2227-9059/12/12/2749 |
Documents similaires
-
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
par: Marco Ritelli, et autres
Publié: (2022-12-01) -
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
par: Marco Ritelli, et autres
Publié: (2020-07-01) -
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
par: Marco Ritelli, et autres
Publié: (2017-09-01) -
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?
par: Nicola Chiarelli, et autres
Publié: (2021-11-01) -
Ehlers-Danlos syndrome in a crossbreed cat
par: Silvana Marques Caramalac, et autres
Publié: (2022-04-01)