Publications by authors named "Shane Anderton"
Article Synopsis
- Congenital heart disease (CHD) is the most common birth defect, affecting about 1% of live births, with a significantly higher incidence in fetuses, highlighting a strong genetic link.
- A study involving 87,355 fetal mice identified 218 CHD models and discovered 91 recessive mutations across 61 genes, including many related to cilia and cell signaling, indicating that these pathways are crucial for understanding CHD development.
- The findings suggest a complex interactome of proteins involved in CHD, providing new insights into its genetic underpinnings and creating valuable resources for further research into human heart diseases.
Background: Congenital heart disease (CHD) has a multifactorial pathogenesis, but a genetic contribution is indicated by heritability studies. To investigate the spectrum of CHD with a genetic pathogenesis, we conducted a forward genetic screen in inbred mice using fetal echocardiography to recover mutants with CHD. Mice are ideally suited for these studies given that they have the same four-chamber cardiac anatomy that is the substrate for CHD.
View Article and Find Full Text PDFBackground: Mice are well suited for modeling human congenital heart disease (CHD), given their 4-chamber cardiac anatomy. However, mice with CHD invariably die prenatally/neonatally, causing CHD phenotypes to be missed. Therefore, we investigated the efficacy of noninvasive microcomputed tomography (micro-CT) to screen for CHD in stillborn/fetal mice.
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