Dysregulated immunity has been associated with IEI since their discovery. Recently, large
concerted efforts have shown how common these complications actually are while providing …

Neutrophil-directed motility is necessary for host defense, but its dysregulation can also
cause collateral tissue damage. Actinopathies are monogenic disorders that affect the actin …

We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3
actin nucleator complex, in two unrelated patients presenting with recurrent and severe …

The Arp2/3 complex drives the formation of branched actin networks that are essential for
many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded …

Background Hereditary actin-related protein 2/3 complex subunit 1B deficiency is
characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy …

Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described
inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized …

The development of epithelial-to-mesenchymal transition (EMT) like features is emerging as
a critical factor involved in the pathogenesis of acute myeloid leukaemia (AML). However …

Transposable elements (TEs) mobility is capable of generating a large number of structural
variants (SVs), which can have considerable potential as molecular markers for genetic …

Limb muscle is responsible for physical activities and myogenic cell migration during
embryogenesis is indispensable for limb muscle formation. Maternal obesity (MO) impairs …

B cell antigen receptor (BCR) signaling induces actin cytoskeleton remodeling by
stimulating actin severing, actin polymerization, and the nucleation of branched actin …