Tau phosphorylation is regulated by a balance between tau kinase and phosphatase
activities. Disruption of this equilibrium was suggested to be at the origin of abnormal tau …

Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …

Transcription factors (TFs) regulate gene programs, thereby controlling diverse cellular
processes and cell states. To comprehensively understand TFs and the programs they …

The CRISPR/Cas9 system is a robust genome editing technology that works in human cells,
animals and plants based on the RNA-programmed DNA cleaving activity of the Cas9 …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

Abstract Types 1 and 2 diabetes affect some 380 million people worldwide. Both ultimately
result from a deficiency of functional pancreatic insulin-producing beta cells. Beta cells …

Scope Trisomy for human chromosome 21 results in D own syndrome (DS), which is among
the most complex genetic perturbations leading to intellectual disability. Accumulating data …

FoxO (forkhead box O; forkhead members of the O class) are transcription factors that
function under the control of insulin/insulin-like signalling. FoxO factors have been …

Trisomy 21 results in Down's syndrome, but little is known about how a 1.5-fold increase in
gene dosage produces the pleiotropic phenotypes of Down's syndrome. Here we report that …