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Article

Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.

JCI insight - 21 Jan 2025

Bowen Caitlin J, Sorber Rebecca, Calderón Giadrosic Juan Francisco, Doyle Jefferson J, Rykiel Graham, Burger Zachary, Zhang Xiaoyan, Espinoza Camejo Wendy A, Anderson Nicole, Sabnis Simone, Bellini Chiara, MacFarlane Elena Gallo, Dietz Harry C

Abstract excerpt

Aortic dissection or rupture is a major cause of mortality in vascular Ehlers-Danlos syndrome (vEDS), a connective tissue disorder caused by heterozygous mutations in the collagen type III alpha 1 chain (COL3A1) gene. C57BL6/J (BL6) mice carrying the Col3a1G938D/+ mutation recapitulate the vEDS vascular phenotype and die suddenly of aortic rupture/dissection. However, 129S6/SvEvTac (referred to here as 129) mice...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39836470
DOI: 10.1172/jci.insight.187315
PMCID: PMC11949044

Genes

COL3A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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