Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia.

@article{Moon2015EssentialRF,
  title={Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia.},
  author={Eun-Hye Moon and Yoo Sung Kim and JiYoung Seo and Sabin Lee and Young Jae Lee and Suk Paul Oh},
  journal={Cardiovascular research},
  year={2015},
  volume={105 3},
  pages={353-60}
}
AIMS TMEM100 was previously identified as a downstream target of activin receptor-like kinase 1 (ALK1; ACVRL1) signalling. Mutations on ALK1 cause hereditary haemorrhagic telangiectasia (HHT), a vascular disorder characterized by mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). The aims of this study are to investigate the in vivo role of TMEM100 at various developmental and adult stages and to determine the extent to which TMEM100 contributed to the development of… CONTINUE READING