Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition

BY Choi, HM Kim, T Ito, KY Lee, X Li… - The Journal of …, 2011 - Am Soc Clin Investig
Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

Genetic investigations in childhood deafness

M Parker, M Bitner-Glindzicz - Archives of disease in childhood, 2015 - adc.bmj.com
Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Diagnostic yield of high‐resolution computed tomography for pediatric sensorineural hearing loss

PJ Antonelli, AE Varela, AA Mancuso - The Laryngoscope, 1999 - Wiley Online Library
Abstract Objectives/Hypothesis: In recent years, relatively subtle inner ear anomalies have
become apparent using high‐resolution computed tomography (CT). The purpose of this …

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

K Mey, AA Muhamad, L Tranebjærg… - The …, 2019 - Wiley Online Library
Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …

Cochlear implantation from the perspective of genetic background

S Usami, S Nishio, H Moteki, M Miyagawa… - The Anatomical …, 2020 - Wiley Online Library
While cochlear implantation (CI) technology has greatly improved over the past 40 years,
one aspect of CI that continues to pose difficulties is the variability of outcomes due to …

Pendred syndrome and iodide transport in the thyroid

P Kopp, L Pesce, JC Solis-S - Trends in Endocrinology & Metabolism, 2008 - cell.com
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing impairment, presence of goiter, and a partial defect in iodide organification, which …

[PDF][PDF] Mouse models to study inner ear development and hereditary hearing loss.

LM Friedman, AA Dror, KB Avraham - International Journal of …, 2007 - academia.edu
Hereditary sensorineural hearing loss, derived from inner ear defects, is the most common
hereditary disability with a prevalence of 1 in 1000 children, although it can be present in up …

Air–bone gap and resonant frequency in large vestibular aqueduct syndrome

T Nakashima, H Ueda, A Furuhashi, E Sato… - Otology & …, 2000 - journals.lww.com
Background Conductive hearing loss is occasionally recognized in large vestibular
aqueduct (LVA) syndrome; however, the incidence rate and the cause are not known …

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

M Li, S Nishio, C Naruse, M Riddell, S Sapski… - Nature …, 2020 - nature.com
Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

The role of the STAS domain in the function and biogenesis of a sulfate transporter as probed by random mutagenesis

N Shibagaki, AR Grossman - Journal of Biological Chemistry, 2006 - ASBMB
Sulfate transporters in plants represent a family of proteins containing transmembrane
domains that constitute the catalytic part of the protein and a short linking region that joins …