Congenital hearing loss

AMH Korver, RJH Smith, G Van Camp… - Nature reviews Disease …, 2017 - nature.com
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …

Enigmatic ear stones: what we know about the functional role and evolution of fish otoliths

T Schulz‐Mirbach, F Ladich, M Plath… - Biological Reviews, 2019 - Wiley Online Library
Otoliths in bony fishes play an important role in the senses of balance and hearing. Otolith
mass and shape are, among others, likely to be decisive factors influencing otolith motion …

New treatment options for hearing loss

U Müller, PG Barr-Gillespie - Nature reviews Drug discovery, 2015 - nature.com
Hearing loss is the most common form of sensory impairment in humans and affects more
than 40 million people in the United States alone. No drug-based therapy has been …

Otolith biochemistry—a review

ORB Thomas, SE Swearer - Reviews in Fisheries Science & …, 2019 - Taylor & Francis
Otoliths are bioinorganic minerals within the inner ear of all bony fishes. They grow
incrementally, laying down alternating protein-rich and mineral-rich bands daily …

Mechanisms of otoconia and otolith development

YW Lundberg, Y Xu, KD Thiessen… - Developmental …, 2015 - Wiley Online Library
Background: Otoconia are bio‐crystals that couple mechanic forces to the sensory hair cells
in the utricle and saccule, a process essential for us to sense linear acceleration and gravity …

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

G Bademci, J Foster, N Mahdieh, M Bonyadi… - Genetics in …, 2016 - nature.com
Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high
degree of genetic heterogeneity, with reported mutations in 58 different genes. This study …

Where hearing starts: the development of the mammalian cochlea

ML Basch, RM Brown, HI Jen, AK Groves - Journal of Anatomy, 2016 - Wiley Online Library
The mammalian cochlea is a remarkable sensory organ, capable of perceiving sound over a
range of 1012 in pressure, and discriminating both infrasonic and ultrasonic frequencies in …

Antisense oligonucleotide-based splice correction for USH2A-associated retinal degeneration caused by a frequent deep-intronic mutation

RWN Slijkerman, C Vaché, M Dona… - … Therapy-Nucleic Acids, 2016 - cell.com
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The
hearing loss can be partly compensated by providing patients with hearing aids or cochlear …

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

C Zazo Seco, M Wesdorp, I Feenstra, R Pfundt… - European Journal of …, 2017 - nature.com
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …

[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …