Article
Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia.
Blood - 1 Mar 2006
Gu Yi, Jin Peng, Zhang Long, Zhao Xingang, Gao Xia, Ning Yuanheng, Meng Anming, Chen Ye-Guang
Abstract excerpt
Genetic studies in mouse and zebrafish have established the importance of activin receptor-like kinase 1 (ALK1) in formation and remodeling of blood vessels. Single-allele mutations in the ALK1 gene have been linked to the human type 2 hereditary hemorrhagic telangiectasia (HHT2). However, how these ALK1 mutations contribute to this disorder remains unclear. To explore the mechanism underlying effect of the...
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