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Article

Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.

The Journal of clinical investigation - 3 Feb 2020

Bowen Caitlin J, Calderón Giadrosic Juan Francisco, Burger Zachary, Rykiel Graham, Davis Elaine C, Helmers Mark R, Benke Kelly, Gallo MacFarlane Elena, Dietz Harry C

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α 1 chain of collagen III. Loss of structural integrity of the extracellular matrix is believed to drive the signs and symptoms of this condition, including spontaneous arterial dissection and/or rupture, the major cause of mortality. We created 2...

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Source

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Identifiers

PMID: 31639107
DOI: 10.1172/JCI130730
PMCID: PMC6994142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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