The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Functional neurological disorder (FND) is a common cause of persistent and disabling
neurological symptoms. These symptoms are varied and include abnormal control of …

The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …

Ras homology (RHO) GTPases are signalling proteins that have crucial roles in triggering
multiple immune functions. Through their interactions with a broad range of effectors and …

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian
disorders, particularly for individuals in whom a known clinical entity could not be assigned …

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin
cytoskeleton and intracellular signal transduction, are associated with a rare …

Over the past two decades, new insights have positioned phosphoinositide 3-kinase-γ
(PI3Kγ) as a context-dependent modulator of immunity and inflammation. Recent advances …

The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of
neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the …

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans,
postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS) …

The structure of proline prevents it from adopting an optimal position for rapid protein
synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly …