Signaling Pathways That Underlie Heart Disease

Diseases affecting heart function exact an enormous toll on human health, but many of the genetic and molecular mechanisms underlying heart disease remain unknown. Yost and colleagues discovered novel roles for the same developmental signaling pathway in two seemingly unrelated sources of cardiac dysfunction: adult heart failure and embryonic heart malformation. Continue reading → Signaling Pathways That Underlie Heart Disease

Diaphragm Development and Congenital Hernias

The diaphragm is an essential mammalian skeletal muscle, as it is required for respiration and serves as a barrier between the thoracic and abdominal cavities. The Kardon lab used sophisticated mouse genetic studies to establish that the diaphragm arises from multiple embryonic tissues. Continue reading → Diaphragm Development and Congenital Hernias

Structure and Function of the Polycystic Kidney Disease Channel

The kidney senses and responds to physiological changes, such as pH, ionic strength, pressure, and nutrient levels. Sensing is mediated by a coupled sensor/ion channel complex called the Polycystic Kidney Disease Channel, which is composed of two subunits, the PKD1 (the primary sensor) and PKD2 (the channel). Continue reading → Structure and Function of the Polycystic Kidney Disease Channel

Vascular Inflammation in Malaria Pathogenesis

The pathogenesis of malaria is characterized by vascular inflammation exacerbated by immune cells that travel to areas where red blood cells infected with parasites stick to the endothelium lining the blood vessels. The Lamb lab has made significant discoveries demonstrating a key role for receptor tyrosine kinase family Eph receptors in malaria pathogenesis. Continue reading → Vascular Inflammation in Malaria Pathogenesis

Genes Responsible for Maintaining Embryonic Developmental Potential

A major question concerning early embryos involves how early cleavage-stage (two-cell) embryos establish unlimited developmental potential – termed totipotency. Cairns and colleagues identified the multicopy retrogene, DUX4 in humans or Dux in mice, as a transcription factor that is turned on in very early embryos and activates hundreds of genes and retroviral elements during cleavage stage. Continue reading → Genes Responsible for Maintaining Embryonic Developmental Potential