TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.

doi:10.1136/annrheumdis-2012-201755

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Article

TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.

Annals of the rheumatic diseases - 1 Nov 2012

Koumakis Eugénie, Wipff Julien, Dieudé Philippe, Ruiz Barbara, Bouaziz Matthieu, Revillod Lucile, Guedj Mickaël, Distler Jörg H W, Matucci-Cerinic Marco, Humbert Marc, Riemekasten Gabriella, Airo Paolo, Melchers Inga, Hachulla Eric, Cusi Daniele, Wichmann H-Erich, Hunzelmann Nicolas, Tiev Kiet, Caramaschi Paola, Diot Elisabeth, Kowal-Bielecka Otylia, Cuomo Giovanna, Walker Ulrich, Czirják László, Damjanov Nemanja, Lupoli Sara, Conti Costanza, Müller-Nurasyid Martina, Müller-Ladner Ulf, Riccieri Valeria, Cracowski Jean-Luc, Cozzi Franco, Bournia Vasiliki Kalliopi, Vlachoyiannopoulos P, Chiocchia Gilles, Boileau Catherine, Allanore Yannick

Abstract excerpt

INTRODUCTION: Systemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH. OBJECTIVE: To explore the genetic bases of SSc-PAH, we combined direct sequencing and genotyping of candidate genes encoding TGFβ receptor family members....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Familial Primary Pulmonary Hypertension

Share to Genetic Predisposition to Disease

Share to Hypertension, Pulmonary

Share to Polymorphism, Single Nucleotide

Share to Receptors, Transforming Growth Factor beta

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Identifiers

PMID: 22896741
DOI: 10.1136/annrheumdis-2012-201755

Genes

PAH
ENG
BMPR2

Provenance

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