Results 51 to 60 of about 7,226 (202)
Claudin expression during early postnatal development of the murine cochlea [PDF]
, 2018 Citation: Kudo, T., Wangemann, P., & Marcus, D. C. (2018). Claudin expression during early postnatal development of the murine cochlea. BMC Physiology, 18(1), 1.
Kudo, Takayuki +2 more
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BMC Research Notes, 2018 Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho +6 more
doaj +1 more source
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice
Scientific Reports, 2022 SLC26A4 is a known iodide transporter, and is localized at the apical membrane of thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and that Slc26a7 is a novel causative gene for congenital hypothyroidism. However, its
Naoya Yamaguchi +14 more
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Prenatal electroporation-mediated gene transfer restores Slc26a4 knock-out mouse hearing and vestibular function [PDF]
Scientific Reports, 2019 AbstractThe otocyst, an anlage of the inner ear, presents an attractive target to study treatment strategies for genetic hearing loss and inner ear development. We have previously reported that electroporation-mediated transuterine gene transfer of Connexin30, utilizing a monophasic pulse into Connexin30−/− mouse otocysts at embryonic day 11.5, is able
Hiroki Takeda +5 more
openaire +2 more sources
Versatility of NaCl transport mechanisms in the cortical collecting duct [PDF]
, 2017 Versatility of NaCl transport mechanisms in the cortical collecting duct. Am J Physiol Renal Physiol 313: F1254 –F1263, 2017. First published September 6, 2017; doi:10.1152/ajprenal.00369.2017.—The cortical collecting duct (CCD) forms part of the ...
Crambert, Gilles, Edwards, Aurelie
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Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse
BMC Medical Genomics, 2023 Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized.
Jin-Young Koh +8 more
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Bihdād, 2020 Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene.
Omid Rezaei +2 more
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Diagnostics, 2021 Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local
Valeriia Yu. Danilchenko +7 more
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Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
, 2013 Objectives. The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing lots, information about the gene mutations can be beneficial in molecular detection and ...
Abdian, Narges. +7 more
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Mutation analysis of the SLC26A4 gene in three Chinese families.
Bioscience trends, 2020 In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A) with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese probands with SLC26A4 singe-allelic mutation and normal hearing (in Families B and C, respectively), the three probands and their parents were clinically and genetically ...
Cheng, Wen +6 more
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