Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss

K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

The role of the stria vascularis in neglected otologic disease

JD Johns, SM Adadey, M Hoa - Hearing research, 2023 - Elsevier
The stria vascularis (SV) has been shown to play a critical role in the pathogenesis of many
diseases associated with sensorineural hearing loss (SNHL), including age-related hearing …

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

H Nakanishi, Y Kawashima, K Kurima… - Proceedings of the …, 2017 - National Acad Sciences
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in
immune cells, including monocytes and macrophages. Activation of the NLRP3 …

Single cell and single nucleus RNA-Seq reveal cellular heterogeneity and homeostatic regulatory networks in adult mouse stria vascularis

S Korrapati, I Taukulis, R Olszewski, M Pyle… - Frontiers in molecular …, 2019 - frontiersin.org
The stria vascularis (SV) generates the endocochlear potential (EP) in the inner ear and is
necessary for proper hair cell mechanotransduction and hearing. While channels belonging …

The stria vascularis in mice and humans is an early site of age-related cochlear degeneration, macrophage dysfunction, and inflammation

H Lang, KV Noble, JL Barth, JA Rumschlag… - Journal of …, 2023 - Soc Neuroscience
Age-related hearing loss, or presbyacusis, is a common degenerative disorder affecting
communication and quality of life for millions of older adults. Multiple pathophysiologic …

Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea

S Gu, R Olszewski, I Taukulis, Z Wei, D Martin… - Scientific reports, 2020 - nature.com
The stria vascularis (SV) in the cochlea generates and maintains the endocochlear potential,
thereby playing a pivotal role in normal hearing. Knowing transcriptional profiles and gene …

Genetic hearing loss associated with autoinflammation

H Nakanishi, P Prakash, T Ito, HJ Kim… - Frontiers in …, 2020 - frontiersin.org
Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or
auditory pathways in the central nervous system. Sensorineural hearing loss can be …

Tissue-resident macrophages in the stria vascularis

T Ito, N Kurata, Y Fukunaga - Frontiers in Neurology, 2022 - frontiersin.org
Tissue-resident macrophages play an important role in clearance, development, and
regulation of metabolism. They also function as sentinel immune cells, initiating …

Importance of SLC26 transmembrane anion exchangers in sperm post-testicular maturation and fertilization potential

A Touré - Frontiers in Cell and Developmental Biology, 2019 - frontiersin.org
In mammals, sperm cells produced within the testis are structurally differentiated but remain
immotile and are unable to fertilize the oocyte unless they undergo a series of maturation …

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

H Locher, JCMJ de Groot, L van Iperen… - Developmental …, 2015 - Wiley Online Library
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in
humans, afflicting one in every thousand newborns. The majority is of heritable origin and …