A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
New methods reveal that complex local splicing variations are more prevalent in animals than previously appreciated, and demonstrate that local splicing variations are relevant for studies of development, gene regulation and neurodegenerative diseases.
Interneuron-specific alternative splice variants of the synaptic receptor neurexin are critical for hippocampal network activity and short-term memory.
RORβ is a key layer 4 transcription factor orchestrating a critical juncture in barrel development where terminal differentiation and activity inputs are integrated to drive cellular organization in the cortex.
A genetically diverse panel of subject-specific induced pluripotent stem cells models the in vitro susceptibility of cardiac cells to develop a cardiotoxic drug response.