Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies

Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies

BackgroundThe transcription factor ERG (erythroblast transformation-specific-related gene) has been identified as a key regulator of vascular function by suppressing inflammation in endothelial cells (ECs). Dysregulation of ERG due to genetic risk variants is linked to chronic inflammation in condit...

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Main Authors: Philipp Erhart, Nicola Dikow, Eva M. C. Schwaibold, Susanne Dihlmann, Caspar Grond-Ginsbach, Daniel Körfer, Christian P. Schaaf, Sabrina Oeser, Katrin Hinderhofer, Dittmar Böckler, Jiarna R. Zerella, Hamish S. Scott, Christopher N. Hahn, Felix Marbach
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
multiple arterial aneurysms
ERG
abdominal aortic aneurysm
loss-of-function variant
haploinsufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1550523/full
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