Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-β signaling pathway
A Fernández-L, F Sanz-Rodriguez… - Clinical medicine & …, 2006 - Marshfield Clinic
Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG;
HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia.
Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous
malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1
proteins are specific endothelial receptors of the transforming growth factor (TGF)-β
superfamily that are essential for vascular integrity. Genetic studies in mice and humans …
HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia.
Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous
malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1
proteins are specific endothelial receptors of the transforming growth factor (TGF)-β
superfamily that are essential for vascular integrity. Genetic studies in mice and humans …