Cav1 L-Type Calcium Channels in the Auditory and Visual Systems

A Koschak, A Lee - Voltage-Gated Calcium Channels, 2022 - Springer
In sensory neurons, presynaptic voltage-gated L-type calcium channels (Cav1) mediate
calcium influx as a first important step in synaptic transmission. This review illuminates the …

Voltage-Gated Ca2+ Channels. Lessons from Knockout and Knock-in Mice

J Striessnig, A Nakao, Y Mori - Voltage-Gated Calcium Channels, 2022 - Springer
Functional diversification of voltage-gated Ca2+ channels is underlain by the existence of
multiple α1-subunit-encoding genes. To define Ca2+ channel types and to understand their …

[HTML][HTML] Auditory Neuropathy

A Kravos - Updates on Hearing Loss and its Rehabilitation, 2023 - intechopen.com
Some patients visit the doctor because of hearing problems in noise. The hearing
examination, however, does not show any specifics. Only an extended and targeted …

[HTML][HTML] Screening of 10 DFNB loci causing autosomal recessive non-syndromic hearing loss in two Iranian populations negative for GJB2 mutations

M Koohiyan, S Reiisi… - Iranian Journal of …, 2019 - ncbi.nlm.nih.gov
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global
public health concerns, is marked by a high degree of genetic heterogeneity. The role of …

Deafness DFNB110 associated with a human MAP3K1 recessive variant recapitulates hearing loss of Map3k1 kinase deficient mice

R Faridi, R Yousaf, S Inagaki, R Olszewski, S Gu… - 2023 - researchsquare.com
Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many genes
causing rare forms of deafness remain to be discovered. Microarrays and exome …

Next generation sequencing in vision and hearing impairment

M Ołdak - Clinical applications for next-generation sequencing, 2016 - Elsevier
Genetic disorders of vision and hearing exhibit genetic heterogeneity. Currently used
sequential single-gene analysis allows identification of disease-causing mutations in only a …

Role of L-Type Ca2+ Channels in Sensory Cells

A Koschak, A Pinggera, K Schicker… - Pathologies of Calcium …, 2014 - Springer
L-type Ca 2+ channels play an important role in sensory cells present in the inner ear and
the retina. Ca v 1.3 predominates in sensory cells of the inner ear (inner and outer cochlear …

Voltage-gated Ca2+ channels and excitation–secretion coupling at the synapse

B Williams, JR Thomas, A Lee - Calcium Signals: From single …, 2023 - iopscience.iop.org
In this chapter, we discuss the factors that regulate the contributions of presynaptic voltage-
gated (CaV) Ca2+ channels to neurotransmitter release. Cav channels serve as portals for …

[HTML][HTML] Auditory Neuropathy Spectrum Disorder: Genetic and Electrophysiological Testing for Predicting Rehabilitation Outcomes after Cochlear Implantation

M Lalayants - Latest Advances in Cochlear Implant Technologies …, 2023 - intechopen.com
Reviling the etiology or at least pathophysiology of auditory neuropathy spectrum disorder is
crucial for choosing rehabilitation pathway and predicting rehabilitation outcomes. Some …

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

T Bharadwaj, I Schrauwen, A Acharya… - … Genetics & Genomic …, 2022 - Wiley Online Library
Background The genetic architecture of hearing impairment in Finland is largely unknown.
Here, we investigated two Finnish families with autosomal recessive nonsyndromic …