Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness
نویسندگان
چکیده
منابع مشابه
Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.
In the cochlea, the mammalian auditory organ, fibrocytes of the mesenchymal nonsensory regions play important roles in cochlear physiology, including the maintenance of ionic and hydric components in the endolymph. Occurrence of human deafness in fibrocyte alterations underlines their critical roles in auditory function. We recently described a novel gene, Otos, which encodes otospiralin, a sma...
متن کاملDevelopmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.
Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger located in the cochlea, thyroid, and kidney. The goal of the present study was to determine whether developmental delays, possibly mediated by systemic or local hypothyroidism, contribute to the failure to develop hearing in mic...
متن کامل"cochlear implantation in patients with inner ear malformations"
performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. this study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. six patients with inner ear malformations underwent implantation in our academic tertiary referral center from...
متن کاملGenetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic
OBJECTIVES Genetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major etiologies of genetic hearing loss among Koreans. The purpose of this study is to investigate the genetic cause of deafness in Korean cochlear impl...
متن کاملCochlear Implantaion in Cases of Inner Ear Pathology
The inner ear pathology remains one of the most common problem in CI surgery [1,2]. Most of the complication after CI surgery main occurs specially in case of inner malformation and ossified cochlea [3,4]. The main purpose to determine the features of inner ear structure based on data of preoperatively imaging studies (high-resolution computer tomography and magnetic resonance imaging) and adeq...
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ژورنال
عنوان ژورنال: Mammalian Genome
سال: 2014
ISSN: 0938-8990,1432-1777
DOI: 10.1007/s00335-014-9515-1