Sally L Dunwoodie
Affiliation: Victor Chang Cardiac Research Institute
Dunwoodie S. The role of hypoxia in development of the Mammalian embryo. Dev Cell. 2009;17:755-73 pubmed publisher
..This review describes how low oxygen and HIF affect gene expression, cell behavior, and ultimately morphogenesis of the embryo and placenta. ..
Shi H, O Reilly V, Moreau J, Bewes T, Yam M, Chapman B, et al
. Gestational stress induces the unfolded protein response, resulting in heart defects. Development. 2016;143:2561-72 pubmed publisher
..Ultimately, our discovery could lead to preventative strategies to reduce the incidence of human CHD. ..
Moreau J, Kesteven S, Martin E, Lau K, Yam M, O Reilly V, et al
. Gene-environment interaction impacts on heart development and embryo survival. Development. 2019;146: pubmed publisher
..Our study provides insight into the causes of embryo loss and variable penetrance of monogenic CHD, and raises the possibility that cases of foetal death and CHD in humans could be caused by similar gene-environment interactions. ..
Alankarage D, Ip E, Szot J, Munro J, Blue G, Harrison K, et al
. Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genet Med. 2018;: pubmed publisher
..However, association of emerging genes with CHD etiology, and development of novel technologies for variant assessment and interpretation, will increase diagnostic yield during future reassessment of our GS data. ..
Szot J, Cuny H, Blue G, Humphreys D, Ip E, Harrison K, et al
. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circ Genom Precis Med. 2018;11:e001978 pubmed publisher
..This 2-tiered approach provides a means of (1) identifying clinically actionable variants and (2) identifying additional disease-causal genes, both of which are essential for improving the molecular diagnosis of CHD. ..
O Reilly V, Lopes Floro K, Shi H, Chapman B, Preis J, James A, et al
. Gene-environment interaction demonstrates the vulnerability of the embryonic heart. Dev Biol. 2014;391:99-110 pubmed publisher
..Importantly, these findings extend our understanding of the roles of Hif1Î± in cardiovascular development. ..
James A, Szot J, Iyer K, Major J, Pursglove S, Chapman G, et al
. Notch4 reveals a novel mechanism regulating Notch signal transduction. Biochim Biophys Acta. 2014;1843:1272-84 pubmed publisher
..These findings indicate a role of NOTCH4 in fine-tuning the forming vascular plexus. ..
Moreau J, Artap S, Shi H, Chapman G, Leone G, Sparrow D, et al
. Cited2 is required in trophoblasts for correct placental capillary patterning. Dev Biol. 2014;392:62-79 pubmed publisher