Genetics of vestibular disorders: pathophysiological insights

L Frejo, I Giegling, R Teggi, JA Lopez-Escamez… - Journal of …, 2016 - Springer
The two most common vestibular disorders are motion sickness and vestibular migraine,
affecting 30 and 1–2% of the population respectively. Both are related to migraine and show …

Whole-genome sequencing of quartet families with autism spectrum disorder

RKC Yuen, B Thiruvahindrapuram, D Merico… - Nature medicine, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …

Gene expression by mouse inner ear hair cells during development

DI Scheffer, J Shen, DP Corey… - Journal of …, 2015 - Soc Neuroscience
Hair cells of the inner ear are essential for hearing and balance. As a consequence,
pathogenic variants in genes specifically expressed in hair cells often cause hereditary …

The genetics of deafness in domestic animals

GM Strain - Frontiers in Veterinary Science, 2015 - frontiersin.org
Although deafness can be acquired throughout an animal's life from a variety of causes,
hereditary deafness, especially congenital hereditary deafness, is a significant problem in …

[图书][B] Routledge handbook of disability studies

N Watson, A Roulstone, C Thomas - 2012 - api.taylorfrancis.com
Description: Second Edition.| New York: Routledge, 2020.| Series: Routledge international
handbooks| Revised edition of Routledge handbook of disability studies, 2012.| Includes …

[HTML][HTML] GJB2 mutations and degree of hearing loss: a multicenter study

RL Snoeckx, PLM Huygen, D Feldmann… - The American Journal of …, 2005 - cell.com
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common
congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in …

Characterization of transcriptomes of cochlear inner and outer hair cells

H Liu, JL Pecka, Q Zhang, GA Soukup… - Journal of …, 2014 - Soc Neuroscience
Inner hair cells (IHCs) and outer hair cells (OHCs) are the two types of sensory receptor cells
that are critical for hearing in the mammalian cochlea. IHCs and OHCs have different …

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

CM Sloan-Heggen, M Babanejad… - Journal of medical …, 2015 - jmg.bmj.com
Background Countries with culturally accepted consanguinity provide a unique resource for
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …

A large genome-wide association study of age-related hearing impairment using electronic health records

TJ Hoffmann, BJ Keats, N Yoshikawa, C Schaefer… - PLoS …, 2016 - journals.plos.org
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be
mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we …

Cell-specific transcriptome analysis shows that adult pillar and Deiters' cells express genes encoding machinery for specializations of cochlear hair cells

H Liu, L Chen, KP Giffen, ST Stringham, Y Li… - Frontiers in Molecular …, 2018 - frontiersin.org
The mammalian auditory sensory epithelium, the organ of Corti, is composed of hair cells
and supporting cells. Hair cells contain specializations in the apical, basolateral and …