Skeletal dysplasias are a diverse group of heritable diseases affecting bone and cartilage
growth. Throughout the years, the molecular defect underlying many of the diseases has …

The small GTPases from the Ras superfamily play crucial roles in basic cellular processes
during practically the entire process of neurodevelopment, including neurogenesis …

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 …

Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

Rho family guanosine triphosphatases (GTPases) regulate cellular signaling and
cytoskeletal dynamics, playing a pivotal role in cell adhesion, migration, and cell cycle …

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that
converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3 …

RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental
processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental …

Background RAC3 encodes a Rho family small GTPase that regulates the behaviour and
organisation of actin cytoskeleton and intracellular signal transduction. Variants in RAC3 …

Rho family small guanosine triphosphatases (GTPases) are important regulators of the
cytoskeleton, and are critical in many aspects of cellular and developmental biology, as well …