The hair bundle—the sensory organelle of inner-ear hair cells of vertebrates—exemplifies
the ability of a cell to assemble complex, elegant structures. Proper construction of the …

The small GTPases of the Rho-family (Rho-family GTPases) have various physiological
functions, including cytoskeletal regulation, cell polarity establishment, cell proliferation and …

ARHGEF6 belongs to the family of guanine nucleotide exchange factors (GEFs) for Rho
GTPases, and it specifically activates Rho GTPases CDC42 and RAC1. Arhgef6 is the X …

Motivation Biomedical research findings are typically disseminated through publications. To
simplify access to domain-specific knowledge while supporting the research community …

Exome sequencing coupled with homozygosity mapping was used to identify a transition
mutation (c. 794T> C; p. Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with …

Svere combined immunodeficiencies (SCID) constitute a heterogeneous group of life-
threatening genetic disorders that typically present in the first year of life. They are defined …

Auditory hair cells (HCs) are the mechanosensory receptors of the cochlea, and HC loss or
malfunction can result from genetic defects. Dock4, a member of the Dock180-related …

Rho GTPases are essential regulators of the actin cytoskeleton. They are involved in various
physiological and biochemical processes such as the regulation of cytoskeleton dynamics …

In the mammalian cochlea, the planar cell polarity (PCP) pathway aligns hair cell orientation
along the plane of the sensory epithelium. Concurrently, multiple cell intrinsic planar polarity …

Myeloid/lymphoid or mixed-lineage leukemia; translocated to chromosome 11 or ALL1 fused
from chromosome 1q (MLLT11/AF1q) is a highly conserved 90 amino acid protein that …