Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …

Ca2+-binding protein 2 (CaBP2) inhibits the inactivation of heterologously expressed
voltage-gated Ca2+ channels of type 1.3 (CaV1. 3) and is defective in human autosomal …

The mammalian inner ear consists of the cochlea and the vestibular labyrinth (utricle,
saccule, and semicircular canals), which participate in both hearing and balance. Proper …

Clinical management of auditory synaptopathies like other genetic hearing disorders is
currently limited to the use of hearing aids or cochlear implants. However, future gene …

Abstract Changes in the intracellular free calcium concentration ([Ca 2+] i) in neurons
regulate many and varied aspects of neuronal function over time scales from microseconds …

Afferent synapses of cochlear inner hair cells (IHCs) employ a unique molecular machinery.
Otoferlin is a key player in this machinery, and its genetic defects cause human auditory …

Cav1. 3 L-type Ca2+-channel function is regulated by a C-terminal automodulatory domain
(CTM). It affects channel binding of calmodulin and thereby tunes channel activity by …

Objectives: We sought to elucidate the gene expression profiles of the causative genes as
well as the localization of the encoded proteins involved in hereditary hearing loss. Methods …

Deafness is a highly heterogeneous disorder which stems, for 50%, from genetic origins.
Sensory transduction relies mainly on sensory hair cells of the cochlea, in the inner ear …

More than 360 million humans are affected with some degree of hearing loss, either early or
later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped …