Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

doi:10.1038/ncomms1633

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Article

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

Nature communications - 10 Jan 2012

Benzinou Michael, Clermont Frederic F, Letteboer Tom G W, Kim Jai-Hyun, Espejel Silvia, Harradine Kelly A, Arbelaez Juan, Luu Minh Thu, Roy Ritu, Quigley David, Higgins Mamie Nakayama, Zaid Musa, Aouizerat Bradley E, van Amstel Johannes Kristian Ploos, Giraud Sophie, Dupuis-Girod Sophie, Lesca Gaetan, Plauchu Henri, Hughes Christopher C W, Westermann Cornelius J J, Akhurst Rosemary J

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) [corrected] is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein pathway genes, ENG and ACVRL1. HHT [corrected] shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of Eng(+/-) and Tgfb1(-/-) mice...

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Source

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Identifiers

PMID: 22233626
DOI: 10.1038/ncomms1633
PMCID: PMC3509798

Genes

PTPN14
ACVRL1
EFNB2
ENG

Provenance

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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