Mutations in CHD7 cause CHARGE syndrome, affecting multiple organs including the inner
ear in humans. We investigate how CHD7 mutations affect inner ear development using …

The afferent innervation of the cochlea is comprised of spiral ganglion neurons (SGNs),
which are characterized into four subtypes (Type 1A, B, and C and Type 2). However, little is …

The inner ear is the hub where hair cells (HCs) transduce sound, gravity, and head
acceleration stimuli to the brain. Hearing and balance rely on mechanosensation, the fastest …

Topological associating domains (TADs) are self-interacting genomic units crucial for
shaping gene regulation patterns. Despite their importance, the extent of their evolutionary …

Background m6A-RNA modification mediated by the N6-methyladenosine RNA methylation-
related molecule methyltransferase-like 3 has been implicated in the progression of …

Mutations in the transcription factors encoded by PHOX2B or LBX1 correlate with congenital
central hypoventilation disorders. These conditions are typically characterized by …

Amyloid plaques, a major pathological hallmark of Alzheimer's disease (AD), are caused by
an imbalance between the amyloidogenic and non‐amyloidogenic pathways of amyloid …

This case is the first reported patient with a MEIS2 gene mutation who primarily exhibits
pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring …

Background Noise-induced hearing loss (NIHL) is one the major causes of acquired hearing
loss in developed countries. Noise can change the pattern of gene expression, inducing …

Abstract Congenital Central Hypoventilation Syndrome (CCHS) is a rare, but life-
threatening, respiratory disorder that is classically diagnosed in children. This disease is …