Article
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.
Scientific reports - 13 Sept 2016
Lessel Davor, Muhammad Tariq, Casar Tena Teresa, Moepps Barbara, Burkhalter Martin D, Hitz Marc-Phillip, Toka Okan, Rentzsch Axel, Schubert Stephan, Schalinski Adelheid, Bauer Ulrike M M, Kubisch Christian, Ware Stephanie M, Philipp Melanie
Abstract excerpt
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart development using zebrafish. We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with laterality defects (heterotaxy)...
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