Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Kun WangSen ZhaoBowen LiuQianqian ZhangYaqi LiJiaqi LiuYan ShenXinghuan DingJiachen LinYong WuZihui YanJia ChenXiaoxin LiXiaofei SongYuchen NiuJian LiuWeisheng ChenYue MingRenqian DuCong ChenBo LongYisen ZhangXiangjun TongShuyang ZhangJennifer E PoseyBo ZhangZhihong WuJoshua D WythePengfei LiuJames R LupskiXinjian YangNan WuPublished in: Journal of medical genetics (2018)
Our study highlights the specific role of BMP/TGF-β and VEGF/VEGFR signalling in the aetiology of BAVM and the efficiency of intensive parallel sequencing in the challenging context of genetically heterogeneous paradigm.
Keyphrases
- vascular endothelial growth factor
- transforming growth factor
- mesenchymal stem cells
- endothelial cells
- bone regeneration
- intellectual disability
- late onset
- white matter
- single cell
- epithelial mesenchymal transition
- signaling pathway
- autism spectrum disorder
- early onset
- cerebral ischemia
- amyotrophic lateral sclerosis