Article
Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.
Hypertension (Dallas, Tex. : 1979) - 1 Oct 2015
Toka Okan, Tank Jens, Schächterle Carolin, Aydin Atakan, Maass Philipp G, Elitok Saban, Bartels-Klein Eireen, Hollfinger Irene, Lindschau Carsten, Mai Knut, Boschmann Michael, Rahn Gabriele, Movsesian Matthew A, Müller Thomas, Doescher Andrea, Gnoth Simone, Mühl Astrid, Toka Hakan R, Wefeld-Neuenfeld Yvette, Utz Wolfgang, Töpper Agnieszka, Jordan Jens, Schulz-Menger Jeanette, Klussmann Enno, Bähring Sylvia, Luft Friedrich C
Abstract excerpt
Autosomal-dominant hypertension with brachydactyly is a salt-independent Mendelian syndrome caused by activating mutations in the gene encoding phosphodiesterase 3A. These mutations increase the protein kinase A-mediated phosphorylation of phosphodiesterase 3A resulting in enhanced cAMP-hydrolytic affinity and accelerated cell proliferation. The phosphorylated vasodilator-stimulated phosphoprotein is diminished,...
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