Article
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Human molecular genetics - 15 Feb 2015
Mallet Christine, Lamribet Khadija, Giraud Sophie, Dupuis-Girod Sophie, Feige Jean-Jacques, Bailly Sabine, Tillet Emmanuelle
Abstract excerpt
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inheritable vascular dysplasia caused by mutations in genes encoding either endoglin or activin receptor-like kinase-1 (ALK1). Functional significance of endoglin missense mutations remains largely unknown leading to a difficult discrimination between polymorphisms and pathogenic mutations. In order to study the functional significance of...
Topics
- Animals
- Antigens, CD
- Cell Line
- Cell Membrane
- Endoglin
- Gene Expression
- Growth Differentiation Factor 2
- Growth Differentiation Factors
- Humans
- Mice