Pseudokinases are members of the protein kinase superfamily but signal primarily through
noncatalytic mechanisms. Many pseudokinases contribute to the pathologies of human …

The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is ubiquitously
expressed in both the central nervous system and in the periphery. CHRNA7 is genetically …

Although next-generation sequencing has revolutionized the ability to associate variants
with human diseases, diagnostic rates and development of new therapies are still limited by …

CRISPR-Cas9 genome editing has promising therapeutic potential for genetic diseases and
cancers, but safety could be a concern. Here we use whole genomic analysis by 10x linked …

Cytotoxic stress activates stress-activated kinases, initiates adaptive mechanisms, including
the unfolded protein response (UPR) and autophagy, and induces programmed cell death …

Pseudophosphatases and pseudokinases are increasingly viewed as integral elements of
signaling pathways, and there is mounting evidence that they have frequently retained the …

Recent schizophrenia (SCZ) studies have reported an increased burden of de novo copy
number variants (CNVs) and identified specific high-risk CNVs, although with variable …

Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were
described for the first time in four individuals with intellectual disability (ID), microcephaly …

Anomalies in neuronal cell architecture, in particular dendritic complexity and synaptic
density changes, are widely observed in the brains of subjects with schizophrenia or mood …

Acute aortic dissections are a preventable cause of sudden death if individuals at risk are
identified and surgically repaired in a non-emergency setting. Although mutations in single …