Wide ranges of congenital and acquired human diseases are associated with pathological conditions in heart formation. To understand the complex genetics of congenital heart defects we study cardiac development in the zebrafish model. We use forward and reverse genetics to identify novel genes that are required for normal heart development and use molecular and cellular techniques to characterize gene function in vivo. Subsequently, we use this information to screen for genetic variations in patients with congenital heart defects to better understand the genetics of the disease.
About the research
Noël ES, Verhoeven M, Lagendijk AK, Tessadori F, Smith K, Choorapoikayil S, den Hertog J and Bakkers J. A Nodal-independent and tissue-intrinsic mechanism controls heart-looping chirality. Nat. Commun. 4:2754
Mugoni, V., Postel, R., Catanzaro, V., De Luca, E., Turco, E., Digilio, G., Silengo, Murphy, M.P., Medana, C., L., Stainier, D.Y.R., Bakkers, J. and Santoro, M.M. (2013) Ubiad1 Is an Antioxidant Enzyme that Regulates eNOS Activity by CoQ10 Synthesis. Cell 152; 504-518
Smith, K., Noël, E., Thurlings, I., Rehmann, H., Chocron, S. and Bakkers, J. (2011) Bmp and Nodal Independently Regulate lefty1 Expression to Maintain Unilateral Nodal Activity During Left-Right Axis Specification in Zebrafish. PloS Gen. 7(9):e1002289
Smith, K.A., Joziasse, I.C., Chocron, S., van Dinther,M., Guryev, V., Verhoeven, M.C., Rehmann, H., van der Smagt, J.J., Doevendans, P.A., Cuppen, E., Mulder, B.J., ten Dijke, P., Bakkers, J. (2009) Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 119: 3062-3069.
Smith, K.A., Chocron, S., von der Hardt, S., de Pater, E., Soufan, A., Bussmann, J., Schulte-Merker, S., Hammerschmidt, M., Bakkers, J. (2008) Rotation and asymmetric development of the zebrafish heart requires directed migration of cardiac progenitor cells. Dev. Cell, 14: 287–297.
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