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Article

Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.

Rheumatology (Oxford, England) - 1 Apr 2007

Wipff J, Kahan A, Hachulla E, Sibilia J, Cabane J, Meyer O, Mouthon L, Guillevin L, Junien C, Boileau C, Allanore Y

Abstract excerpt

UNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been...

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Topics

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Share to Aged, 80 and over
Share to Antigens, CD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoglin

Share to Gene Frequency

Share to Hypertension, Pulmonary

Share to Polymorphism, Genetic

Share to Receptors, Cell Surface

Share to Scleroderma, Systemic

Source

Identifiers

PMID: 17166870
DOI: 10.1093/rheumatology/kel378

Genes

PAH
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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