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

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

Abstract Background 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 uter...

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Bibliographic Details
Main Authors: Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D. Foehr
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
vEDS
COL3A1
Collagen III
CTXIII
Lysyl Oxidase
LOXL2
Online Access:https://doi.org/10.1186/s13023-023-03007-7

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