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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Edwards, JJ; Rouillard, AD; Fernandez, NF; Wang, Z; Lachmann, A; Shankaran, SS; Bisgrove, BW; ... Gelb, BD; + view all (2020) Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC: Basic to Translational Science , 5 (4) pp. 376-386. 10.1016/j.jacbts.2020.01.012. Green open access

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Abstract

Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited. To identify causal CHD genes that are associated with specific molecular functions, the study used prior knowledge to filter de novo variants from 2,881 probands with sporadic severe CHD. This approach enabled the authors to identify an association between left ventricular outflow tract obstruction lesions and genes associated with the WAVE2 complex and regulation of small GTPase-mediated signal transduction. Using CRISPR zebrafish knockdowns, the study confirmed that WAVE2 complex proteins brk1, nckap1, and wasf2 and the regulators of small GTPase signaling cul3a and racgap1 are critical to cardiac development.

Type: Article
Title: Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jacbts.2020.01.012
Publisher version: https://doi.org/10.1016/j.jacbts.2020.01.012
Language: English
Additional information: © 2020 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation under a Creative Commons license (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: congenital heart disease, systems biology, translational genomics
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10096332
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