Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …

Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

SHANK genes code for scaffold proteins located at the post-synaptic density of
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …

Autism spectrum disorders (ASD) are a group of complex and heterogeneous
developmental disorders involving multiple neural system dysfunctions. In an effort to …

Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …

Background Corticotropin-independent Cushing's syndrome is caused by tumors or
hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal …

Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder
characterized by psychiatric and neurological features. Most reported cases are caused by …

Genetic studies have revealed significant overlaps of risk genes among psychiatric
disorders. However, it is not clear how different mutations of the same gene contribute to …

Mutations in the synaptic scaffolding protein gene SHANK3 are strongly implicated in autism
and Phelan–McDermid 22q13 deletion syndrome. The precise location of the mutation …

Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …