Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2
Broadway-Stringer S. et al, (2023), Cells
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
Alankarage D. et al, (2022), Differentiation
Analysis of Placental Arteriovenous Formation Reveals New Insights Into Embryos With Congenital Heart Defects
KALISCH-SMITH J. et al, (2022), Frontiers in Genetics
The onset of circulation triggers a metabolic switch required for endothelial to hematopoietic transition.
Azzoni E. et al, (2021), Cell Rep, 37
Better communication between experts is needed to solve the environmental origins of birth defects
Sparrow DB., (2021), BioEssays, 2100241 - 2100241
Maternal iron deficiency perturbs embryonic cardiovascular development in mice.
Kalisch-Smith JI. et al, (2021), Nature communications, 12
Maternal iron deficiency perturbs embryonic cardiovascular development in mice
SPARROW D. et al, (2021), Nature Communications
Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant
JIANG H. et al, (2021), Basic Research in Cardiology
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
Martin E. et al, (2020), Human Molecular Genetics
Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants
Chapman G. et al, (2019), Human Molecular Genetics
Environmental Risk Factors for Congenital Heart Disease
Kalisch-Smith JI. et al, (2019), Cold Spring Harbor Perspectives in Biology, a037234 - a037234
Tamoxifen administration in pregnant mice can be deleterious to both mother and embryo
VED N. et al, (2019), Laboratory Animals
Gene-environment interaction impacts on heart development and embryo survival
Moreau JLM. et al, (2019), Development, 146, dev172957 - dev172957
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
Szot JO. et al, (2018), Circulation: Genomic and Precision Medicine
NAD Deficiency, Congenital Malformations and Niacin Supplementation
Shi H. et al, (2017), New England Journal of Medicine
Gestational stress induces the unfolded protein response, resulting in heart defects
Moreau JLM. et al, (2017), MECHANISMS OF DEVELOPMENT, 145, S67 - S68
Gestational Stress Induces the Unfolded Protein Response Resulting in Heart Defects
Shi H. et al, (2016), Development
Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling.
Wilkinson LJ. et al, (2015), Kidney Int, 87, 975 - 983