Article

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts

2024-11-05

Abstract excerpt

Dominant mutations in COL3A1 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-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology...

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Literature Corpus work: 28a5b04e-e2a2-5efb-aad2-4c9c18fb610c
DOI: 10.20944/preprints202411.0294.v1

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