Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model
CJ Hu, YC Lu, TH Yang, YH Chan, CY Tsai… - International Journal of …, 2021 - mdpi.com
Recessive variants of the SLC26A4 gene are globally a common cause of hearing
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
CJ Hu, YC Lu, CY Tsai, YH Chan, PH Lin, YS Lee… - Scientific reports, 2021 - nature.com
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice
YC Lu, CC Wu, TH Yang, YH Lin, IS Yu, SW Lin… - PloS one, 2013 - journals.plos.org
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …
Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology
YC Lu, CC Wu, WS Shen, TH Yang, TH Yeh, PJ Chen… - PloS one, 2011 - journals.plos.org
Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans
H Mutai, K Wasano, Y Momozawa, Y Kamatani… - PLoS …, 2020 - journals.plos.org
Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the
causative genes. Further, some genes involved in hereditary hearing loss have yet to be …
causative genes. Further, some genes involved in hereditary hearing loss have yet to be …
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
FB Cengiz, R Yilmazer, L Olgun, L Sennaroglu… - International journal of …, 2017 - Elsevier
Objectives The genetics of sensorineural hearing loss is characterized by a high degree of
heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been …
heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been …
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
VY Danilchenko, MV Zytsar, EA Maslova… - International Journal of …, 2022 - mdpi.com
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
Identification of SLC26A4 c. 919-2A> G compound heterozygosity in hearing-impaired patients to improve genetic counseling
Q Li, Q Zhu, Y Yuan, S Huang, D Han, D Huang… - Journal of Translational …, 2012 - Springer
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …
Mutation analysis of the SLC26A4 gene in three Chinese families
C Wen, S Wang, X Zhao, X Wang, X Wang… - Bioscience …, 2019 - jstage.jst.go.jp
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 …
with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese …