Article
Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.
Circulation. Genomic and precision medicine - 1 Aug 2026
Desroches-Castan Agnès, Beurier-Soulat Léa, Tusseau Maud, Coulet Florence, Azemard Valentin, Logeart-Avramoglou Delphine, Maillard Hélène, Laffargue Fanny, Nachury-Janel Caroline, Giraud Sophie, Lesca Gaëtan, Grynblat Julien, Guilhem Alexandre, Tillet Emmanuelle, Dupuis-Girod Sophie, Montani David, Bailly Sabine
Abstract excerpt
BACKGROUND: GDF2 (encoding BMP9) variants have been described in pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT), as well as a few BMP10 variants in PAH. The purpose of the present study was to develop a functional assay capable of discriminating benign from pathogenic variants and to characterize the underlying molecular mechanisms responsible for their loss of function....
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