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Article

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

International journal of molecular sciences - 19 Aug 2021

Galaris Georgios, Montagne Kévin, Thalgott Jérémy H, Goujon Geoffroy J P E, van den Driesche Sander, Martin Sabrina, Mager Hans-Jurgen J, Mummery Christine L, Rabelink Ton J, Lebrin Franck

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia type 1 (HHT1) is an autosomal dominant inherited disease characterized by arteriovenous malformations and hemorrhage. HHT1 is caused by mutations in ENDOGLIN, which encodes an ancillary receptor for Transforming Growth Factor-β/Bone Morphogenetic Protein-9 expressed in all vascular endothelial cells. Haploinsufficiency is widely accepted as the underlying mechanism for HHT1....

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Identifiers

PMID: 34445652
DOI: 10.3390/ijms22168948
PMCID: PMC8396348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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