DFNB1 non-syndromic hearing impairment: Diversity of mutations and associated phenotypes

FJ Del Castillo, I Del Castillo - Frontiers in molecular neuroscience, 2017 - frontiersin.org
The inner ear is a very complex sensory organ whose development and function depend on
finely balanced interactions among diverse cell types. The many different kinds of inner ear …

Connexin mutations and hereditary diseases

Y Qiu, J Zheng, S Chen, Y Sun - International Journal of Molecular …, 2022 - mdpi.com
Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …

Macrophages in the human cochlea: saviors or predators—a study using super-resolution immunohistochemistry

W Liu, M Molnar, C Garnham, H Benav… - Frontiers in …, 2018 - frontiersin.org
The human inner ear, which is segregated by a blood/labyrinth barrier, contains resident
macrophages [CD163, ionized calcium-binding adaptor molecule 1 (IBA1)-, and CD68 …

The human endolymphatic sac and inner ear immunity: macrophage interaction and molecular expression

C Kämpfe Nordström… - Frontiers in …, 2019 - frontiersin.org
Background: The endolymphatic sac (ES) is endowed with a multitude of white blood cells
that may trap and process antigens that reach the inner ear from nearby infection-prone …

A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function

HA Sanchez, L Kraujaliene, VK Verselis - Journal of General Physiology, 2024 - rupress.org
Connexins (Cxs) function as gap junction (GJ) channels and hemichannels that mediate
intercellular and transmembrane signaling, respectively. Here, we investigated the proximal …

Inner ear connexin channels: roles in development and maintenance of cochlear function

F Mammano - Cold Spring Harbor perspectives …, 2019 - perspectivesinmedicine.cshlp.org
Connexin 26 and connexin 30 are the prevailing isoforms in the epithelial and connective
tissue gap junction systems of the developing and mature cochlea. The most frequently …

A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens

W Liu, Å Johansson, H Rask-Andersen… - BMC medicine, 2021 - Springer
Background Sensorineural hearing loss is one of the most common sensory deficiencies.
However, the molecular contribution to age-related hearing loss is not fully elucidated …

Age-related inflammation and oxidative stress in the cochlea are exacerbated by long-term, short-duration noise stimulation

V Fuentes-Santamaría, JC Alvarado… - Frontiers in Aging …, 2022 - frontiersin.org
We have previously reported that young adult rats exposed to daily, short-duration noise for
extended time periods, develop accelerated presbycusis starting at 6 months of age …

The human “cochlear battery”–claudin-11 barrier and ion transport proteins in the lateral wall of the cochlea

W Liu, A Schrott-Fischer, R Glueckert… - Frontiers in Molecular …, 2017 - frontiersin.org
Background: The cochlea produces an electric field potential essential for hair cell
transduction and hearing. This biological “battery” is situated in the lateral wall of the …

In utero gene therapy and its application in genetic hearing loss

C Kong, G Yin, X Wang, Y Sun - Advanced Biology, 2024 - Wiley Online Library
For monogenic genetic diseases, in utero gene therapy (IUGT) shows the potential for early
prevention against irreversible and lethal pathological changes. Moreover, animal models …