Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

The vascular network is established and maintained through the processes of
vasculogenesis and angiogenesis, which are tightly regulated during embryonic and …

Cortical GABAergic interneurons are critical components of neural networks. They provide
local and long-range inhibition and help coordinate network activities involved in various …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Cysteine modifications emerge as important players in cellular signaling and homeostasis.
Here, we present a chemical proteomics strategy for quantitative analysis of reversibly …

Purpose Epileptic encephalopathies (EE), are a group of age-related disorders
characterized by intractable seizures and electroencephalogram (EEG) abnormalities that …

Gamma-aminobutyric acid type A (GABA A) receptors are the primary inhibitory
neurotransmitter-gated ion channels in the mammalian central nervous system …

The mechanisms by which the human cerebral cortex folds into its final form remain poorly
understood. With most of the current models and evidence addressing secondary folds, we …

The human dedicator of cytokinesis (DOCK) family consists of 11 structurally conserved
proteins that serve as atypical RHO guanine nucleotide exchange factors (RHO GEFs) …

Rho family GTPases, including RhoA, Rac1, and Cdc42 as the most studied members, are
master regulators of actin cytoskeletal organization. Rho GTPases control various aspects of …