... patients with MD for (1) anatomical investigation of hair cell and nerve fibre markers using immunohistochemistry, and (2) functional studies using electrophysiological recordings of voltage-activated currents. Our data show considerable reduction in and disorganisation of vestibular hair cells...

... for Ak2 deficiencies. One of the clinical features of RD is hearing loss, but its pathophysiology and causes have not been determined. In adult mammals, sensory hair cells of the inner ear do not regenerate; however, their regeneration has been observed in several non-mammalian vertebrates, including...

... how recent technological developments allow Drosophila to be used as a model to understand the function of human deafness genes. Cochlea Deafness Drosophila Hair cells Hearing Usher syndrome Hearing loss is one of the most common neurological disorders in humans, affecting 2...

... not significantly differ from contralateral non-injured ear tissue (for quantification of hair cells, see Fig. 4 B). At the ultra-structural level, the detailed morphology also appeared normal. Type I and type II hair cells were clearly identifiable ( Fig. 6 B-C) with proper calyx ( Fig. 6 D) or bouton ( Fig. 6 E...

... is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1 -deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair...

...Tamara M. Stawicki; Kelly N. Owens; Tor Linbo; Katherine E. Reinhart; Edwin W. Rubel; David W. Raible Control of the extracellular environment of inner ear hair cells by ionic transporters is crucial for hair cell function. In addition to inner ear hair cells, aquatic vertebrates have hair cells...