Article

Gene-specific endothelial programs drive AVM pathogenesis in SMAD4 and ALK1 loss-of-function

2025-01-03

Abstract excerpt

<h4>Background</h4> Hereditary hemorrhagic telangiectasia is a genetic disorder caused by loss-of-function mutations in components of the bone morphogenetic protein signaling pathway, leading to arteriovenous malformations. Most prior work has treated BMP-component mutations as mechanistically interchangeable, yet whether distinct genes converge on a shared mechanism remains unclear. We aimed to understand the mo...

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Literature Corpus work: 42ecdae0-4da3-5c1a-8757-aab657396fa4
DOI: 10.1101/2025.01.03.631070

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