Endoglin ER-retained mutants exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele
Abstract:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant
disorder affecting 1 in 5,000-8,000 individuals. Hereditary hemorrhagic
telangiectasia type 1 (HHT1) is the most common HHT and manifests as
diverse vascular malformations ranging from mild symptoms such as
epistaxis and mucosal and cutaneous telangiectases to severe
arteriovenous malformations (AVMs) in the lungs, brain or liver. HHT1 is
caused by heterozygous mutations in the ENG gene, which encodes
endoglin, the TGFb homodimeric coreceptor… Show more
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