Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene
Y Tian, H Xu, D Liu, J Zhang, Z Yang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of
inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4 …
inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4 …
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
Abstract Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …
[HTML][HTML] The extracellular loop of pendrin and prestin modulates their voltage-sensing property
MF Kuwabara, K Wasano, S Takahashi… - Journal of Biological …, 2018 - ASBMB
Pendrin and prestin belong to the solute carrier 26 (SLC26) family of anion transporters.
Prestin is unique among the SLC26 family members in that it displays voltage-driven motor …
Prestin is unique among the SLC26 family members in that it displays voltage-driven motor …
[HTML][HTML] A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population
S Li, Q Peng, S Liao, W Li, Q Ma, X Lu - PloS one, 2017 - journals.plos.org
Background Congenital deafness is one of the most distressing disorders affecting humanity
and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese …
and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese …
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts
S Wang, YM Zhu, CY Xu, W Ding, H Jia… - … Genetics & Genomic …, 2024 - Wiley Online Library
Objective We aimed to evaluate the genotype–phenotype relationship in two Chinese family
members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples …
members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples …
[HTML][HTML] Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
Variant prioritization of exome sequencing (ES) data for molecular diagnosis of
sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant …
sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant …
Genotyping and audiological characteristics of infants with a single-allele SLC26A4 mutation
X Zhao, L Huang, X Wang, X Wang, L Zhao… - International Journal of …, 2019 - Elsevier
Objectives To identify second-allele variant in infants with a known single-allele mutation of
the SLC26A4 gene and to determine the frequency of their occurrence; and to investigate …
the SLC26A4 gene and to determine the frequency of their occurrence; and to investigate …
河南省100 例非综合征型聋患者聋基因突变分析
杨爱利， 耿曼英， 张慧， 郭小艳， 汤建芬… - 临床耳鼻咽喉头颈外科 …, 2015 - cqvip.com
目的: 通过对河南地区非综合征型聋患者耳聋相关基因突变的分析, 初步了解河南地区耳聋患者
基因的突变频率和突变热点. 方法: 询问病史及临床检查后, 收集河南地区100 …
基因的突变频率和突变热点. 方法: 询问病史及临床检查后, 收集河南地区100 …
In silico analysis of membrane transport/permeability mechanisms
C Bassot - 2017 - research.unipd.it
Lipid membranes are a fundamental component of living cells, mediating the physical
separation of intracellular components from the external environment, as well as the different …
separation of intracellular components from the external environment, as well as the different …