SFARI | Search Results for “cra”

BAF53b (Actl6b) in autism and neurodevelopmental disorders

Crabtree and Gleeson will focus on rare high-impact genetic mutations for factors in the BAF complex to test how links between neuronal activity and the epigenome may be interrupted in ASD.

Whole-genome sequencing of the Simons Simplex Collection: New data release

Whole-genome sequencing data for a total of 8,975 genomes from the Simons Simplex Collection are now available. This includes 2,174 genomes that have been available since August 2016 (and whose data have now been reprocessed using a new computational pipeline) in addition to 6,801 new genomes.

MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.

CHD8 mutation leads to autistic-like behaviors and impaired striatal circuits.

Haploinsufficiency of the autism-associated SHANK3 gene leads to deficits in synaptic function, social interaction, and social communication.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior.

miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.