Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Human mutation - 1 Oct 2018
Ferese Rosangela, Bonetti Monica, Consoli Federica, Guida Valentina, Sarkozy Anna, Lepri Francesca Romana, Versacci Paolo, Gambardella Stefano, Calcagni Giulio, Margiotti Katia, Piceci Sparascio Francesca, Hozhabri Hossein, Mazza Tommaso, Digilio Maria Cristina, Dallapiccola Bruno, Tartaglia Marco, Marino Bruno, Hertog Jeroen den, De Luca Alessandro
Abstract excerpt
Atrioventricular septal defect (AVSD) may occur as part of a complex disorder (e.g., Down syndrome, heterotaxy), or as isolate cardiac defect. Multiple lines of evidence support a role of calcineurin/NFAT signaling in AVSD, and mutations in CRELD1, a protein functioning as a regulator of calcineurin/NFAT signaling have been reported in a small fraction of affected subjects. In this study, 22 patients with...
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