A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
Genetic and molecular analyses show that FOXC1 and FOXC2 play a role in controlling lymphatic valve maintenance as key mediators of mechanotransduction to control cytoskeletal organization and RhoA/ROCK signaling.
Quantitative genetic analyses reveal remarkably broad genetic variation underlies the requirement for two critical regulatory inputs into a core embryonic gene regulatory network within one animal species.
A molecular mechanism that involves highly conserved transcription factors enables cholinergic motor neurons of the nematode Caenorhabditis elegans to become and remain functional.