Human Genetics of Ventricular Septal Defect
Cytoband CNV start (hg18) CNV end (hg18) Size Copy number Candidate genes References 1q21.1 22q11.2 144723763 19389671 1574 kb 406 kb Deletion Duplication ACP6, BCL9, CHD1L, FMO5, GJA5, PRKAB2 CRKL…
Neural Crest
Fig. 4.1 (a) Derivatives of the cardiac neural crest cells (CNCC). CNCCs originate in the dorsal neural tube and migrate to pharyngeal arches 3, 4, and 6 and into outflow…
Establishment of Cardiac Laterality
Fig. 7.1 Specification of cardiac asymmetry. (a) Cilia generated leftward flow at the embryonic node initiate an asymmetric signaling cascade in which nodal, lefty2, and pitx2 are expressed exclusively in…
Cardiac Transcription Factors and Regulatory Networks
Fig. 12.1 Correlated gene groups. (a) Cluster dendrogram showing 13 correlated gene groups. Clustering was derived by cutting the cluster tree at the 0.001 quantile of a random distribution. The…
Clinical Presentation and Therapy of Ventricular Septal Defect
Fig. 22.1 Diagrammatic representation of the types and locations of VSDs. The anterior surface of the heart has been removed, revealing the ventricular septum as viewed from the right side….
Human Genetics of Atrial Septal Defect
Gene symbol Protein Extracardiac phenotypes Reference Sarcomeric protein ACTC1 Alpha-cardiac actin No [15] MYH6 Alpha-cardiac myosin heavy chain No [16] MYH7 Beta-myosin heavy chain No [17] Signaling pathway …
Environmental Signals
Risk category Description A Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk…
Inflow Tract Development
Fig. 5.1 The dorsal mesocardium and development of the dorsal mesenchymal protrusion. Panels a and b show the dorsal mesocardium at the venous pole of an E9.5 mouse heart. The…
Epigenetics
Fig. 15.1 Epigenetic regulators modify histone tails of a nucleosome. Epigenetic factors can be categorized into “writers,” “erasers,” and “readers.” Writers add specific modifications to the histone tails of a…
Hemodynamics During Development and Postnatal Life
Fig. 9.1 Pressure overload model in the chick embryo. The embryo at day 4 of incubation (left panel) is exposed by amniotomy, and through the developing chest wall, a piece…
