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Article

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

Pediatric research - 1 Jan 2000

Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White R I, Dunn J, Letarte M

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder that is heterogeneous in terms of age of onset and clinical manifestations. Endoglin is the gene mutated in HHT1, which is associated with a higher prevalence of pulmonary arteriovenous malformations than HHT2, where ALK-1 is the mutated gene. Endoglin is constitutively expressed on endothelial cells and inducible on...

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Share to Antigens, CD
Share to Endoglin
Share to Endothelium, Vascular

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Receptors, Cell Surface

Share to Telangiectasia, Hereditary Hemorrhagic

Share to Vascular Cell Adhesion Molecule-1

Source

Identifiers

PMID: 10625079
DOI: 10.1203/00006450-200001000-00008

Genes

ALK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.PMID 10625079Read ↗

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

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

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

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

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1.Semantic 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 ↗

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

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

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

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