Otoferlin is a C2-domain, transmembrane protein whose mutated form is responsible for the DFNB9 subtype of prelingual hearing impairment. Mutations in otoferlin cause an autosomal recessive, non-syndromic form of deafness that is characterized by auditory neuropathy/ auditory dissynchrony (AN/AD), meaning that the outer hair cells (OHCs) are normal, and the...
The aryl hydrocarbon receptor (AHR) is a ligand activated transcription factor that is a member of the basic helix-loop-helix PER-ARNT-SIM (bHLH/PAS) protein family of cellular sensors. The AHR is conserved across multiple animal phyla and is required for proper vertebrate development. A structurally diverse group of chemicals, including polycyclic aromatic...
Polycyclic aromatic hydrocarbons (PAHs) are widespread environmental contaminants that occur in complex mixtures. These environmental mixtures can consist of both parent PAHs and their derivatives. Several parent PAHs are known or suspected mutagens and/or carcinogens, and a handful of PAH derivatives are known to be more potent mutagens and/or carcinogens...
A fundamental difference between prokaryotic and eukaryotic cells is the presence of membrane bound organelles in eukaryotes. The dynamics of membrane trafficking within the cell are responsible for everything from intercellular communication and cell homeostasis, to mitosis, cell migration, and differentiation. These processes require exocytosis and compensatory endocytosis, often working...
There are more than 87,000 chemicals in current use with little to no toxicity information available. Assessing such a large number of chemicals using traditional methods would take an unreasonable amount of time and money, and require the use a large number of animals. The incorporation of high-throughput in vivo...
Auditory defects and disorders are prevalent at all ages and affect 8% of the population in developed nations including newborns and children. Congenital hearing loss is the most common birth defect and it is estimated that 1 in 1000 children are affected by deafness at birth or before the onset...
Hearing loss is one of the most common defect, affecting 360 million people worldwide due to several factors including congenital, present at or soon after birth or acquired with age. Congenital hearing loss affects 32 million children in the world. The economic impact of hearing loss is estimated to cost...