Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; p. 9
• Main Authors: Foehr, Reece, Anderson, Keith, Dombrowski, Owen, Foehr, Anna, Foehr, Erik D.
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 05.01.2024; BioMed Central; BMC
• Subjects: Age; Analysis; Aneurysms; Aortic dissection; COL3A1; Collagen; Collagen (type III); Collagen III; Connective tissue diseases; Cross-linking; CTXIII; Development and progression; Ehlers-Danlos syndrome; Elastin; Enzymes; Extracellular matrix; Fibroblasts; Fibrosis; Gene expression; Genes; Genetic aspects; Genetic testing; Health aspects; Life span; LOXL2; Lysyl Oxidase; Medical research; Messenger RNA; Mutation; Oxidases; Proteases; Proteins; Proteomics; Rare diseases; Skin; Structure-function relationships; vEDS; United States; COL3A1; Lysyl Oxidase; Fibrosis; vEDS; Collagen III; Aortic Dissection; CTXIII; LOXL2

Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene (COL3A1). The disease is characterized by tissue friability and age-related susceptibility to arterial aneurysm, dissection and rupture as well as uterine and bowl tears....