Article
Enhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2.
PloS one - 1 Jan 2013
Choi Eun-Jung, Kim Yong Hwan, Choe Se-woon, Tak Yu Gyoung, Garrido-Martin Eva M, Chang Myron, Lee Young Jae, Oh S Paul
Abstract excerpt
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic vascular disease in which arteriovenous malformations (AVMs) manifest in skin and multiple visceral organs. HHT is caused by heterozygous mutations in endoglin (ENG), activin receptor-like kinase 1 (ALK1), or SMAD4. ALK1 regulates angiogenesis, but the precise function of ALK1 in endothelial cells (ECs) remains elusive. Since most blood vessels of HHT...
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