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Expression Analysis of Four Endoglin Missense Mutations Suggests That Haploinsufficiency Is the Predominant Mechanism for Hereditary Hemorrhagic Telangiectasia Type 1

1 Nov 1999

Abstract excerpt

ENDOGLIN codes for a homodimeric membrane glycoprotein that interacts with receptors for members of the TGF-beta superfamily and is the gene mutated in the autosomal dominant vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1). We recently demonstrated that functional endoglin was expressed at half levels on human umbilical vein endothelial cells (HUVECs) and peripheral blood activated monocytes...

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PMID: 10545596
DOI: 10.1093/hmg/8.12.2171

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Expression Analysis of Four Endoglin Missense Mutations Suggests That Haploinsufficiency Is the Predominant Mechanism for Hereditary Hemorrhagic Telangiectasia Type 1PMID 10545596Read ↗

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.Semantic proximity Read ↗

Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.Semantic proximity Read ↗

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.Semantic proximity Read ↗

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanismsSemantic proximity Read ↗

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.Semantic proximity Read ↗

Endoglin ER-retained mutants exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type alleleSemantic proximity Read ↗

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.Semantic proximity Read ↗

Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.Semantic proximity Read ↗

Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic TelangiectasiaSemantic proximity Read ↗

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.Semantic proximity Read ↗

Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.Semantic proximity Read ↗

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2Semantic proximity Read ↗

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