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Smith, KA, Joziasse, IC, Chocron, S, van Dinther, M, Guryev, V, Verhoeven, MC, Rehmann, H, van der Smagt, JJ, Doevendans, PA, Cuppen, E, Mulder, BJ, Ten Dijke, P and Bakkers, J (2009) Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 119:3062-9
Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identified that are responsible for AVS-associated congenital heart defects.
Activin Receptors, Type I/genetics; Activin Receptors, Type I/metabolism; Alleles; Amino Acid Substitution; Animals; COS Cells; Cattle; Cercopithecus aethiops; Female; Genes, Dominant; Heart/embryology; Heart/physiopathology; Heart Septal Defects/genetics; Heart Septal Defects/metabolism; Heart Septal Defects/physiopathology; Humans; Male; Mutation, Missense; Myocardium/metabolism; Netherlands; Polymorphism, Single Nucleotide; Zebrafish/embryology; Zebrafish/genetics