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The CYB5R3 T117S missense variant is associated with attenuated riociguat efficacy in sickle cell disease
Katherine C Wood1,2, Seyed Mehdi Nouraie3, Mark T Gladwin4
1Department of Medicine, Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA.
Abstract:
Sickle cell disease attenuates nitric oxide signaling for soluble guanylyl cyclase (sGC) stimulated hemovascular function. Cytochrome b5 reductase 3 (CYB5R3) regulates sGC activity and expression. We demonstrate the CYB5R3 T117S variant associates with reduced sGC stimulator riociguat efficacy.
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