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Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension
Author(s) -
Cathelijne E. van der Bruggen,
Chris Happé,
Peter Dorfmüller,
Pia Trip,
Onno A. Spruijt,
Nina Rol,
Femke P. M. Hoevenaars,
Arjan C. Houweling,
Barbara Girerd,
J. Tim Marcus,
Olaf Mercier,
Marc Humbert,
M. Louis Handoko,
Jolanda van der Velden,
Anton Vonk Noordegraaf,
Harm Jan Bogaard,
MarieJosé Goumans,
Frances S. de Man
Publication year - 2016
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.115.020696
Subject(s) - medicine , bone morphogenetic protein , bone morphogenetic protein receptor , bmpr2 , pulmonary hypertension , cardiology , receptor , mutation , endocrinology , genetics , gene , biology
The effect of a mutation in the bone morphogenetic protein receptor 2 (BMPR2) gene on right ventricular (RV) pressure overload in patients with pulmonary arterial hypertension is unknown. Therefore, we investigated RV function in patients who have pulmonary arterial hypertension with and without the BMPR2 mutation by combining in vivo measurements with molecular and histological analysis of human RV and left ventricular tissue.

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