Results 21 to 30 of about 8,863 (195)

Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants [PDF]

Children, 2022
Enlarged vestibular aqueduct is the most common inner ear malformation in pediatric patients with sensorineural hearing loss. Here, we report a new presentation of enlarged vestibular aqueduct in a Korean family. The family consists of two parents and five daughters, and the first and second daughters were diagnosed with bilateral enlarged vestibular ...
Jun Chul Byun, Kyu-Yup Lee, Su-Kyeong Hwang   +2 more
openaire   +3 more sources

Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model

Neural Plasticity, 2021
Purpose. Slc26a4-/- mice exhibit severer defects in the development of the cochlea and develop deafness, while the underlying mechanisms responsible for these effects remain unclear.
Wenyue Xue, Yuxin Tian, Yuanping Xiong, Feng Liu, Yanmei Feng, Zhengnong Chen, Dongzhen Yu, Shankai Yin   +7 more
doaj   +1 more source

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

JCRPE, 2022
INTRODUCTION: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the
Chang-Run Zhang, Yuan-Ping Shi, Cao-Xu Zhang, Feng Sun, Wen-Jiao Zhu, Rui-Jia Zhang, Ya Fang, Qian-Yue Zhang, Chen-Yan Yan, Ying-Xia Ying, Shuang-Xia Zhao, Huai-Dong Song   +11 more
doaj   +1 more source

The Anion Exchanger Pendrin (SLC26A4) and Renal Acid-base Homeostasis [PDF]

Cellular Physiology and Biochemistry, 2011
The anion exchanger pendrin (Pds, SLC26A4) transports various anions including bicarbonate, chloride and iodide. In the kidney, pendrin is exclusively expressed on the luminal pole of bicarbonate-secretory type B intercalated cells. Genetic ablation of pendrin in mice abolishes luminal chloride-bicarbonate exchanger activity from type B intercalated ...
Wagner CA, Mohebbi N, CAPASSO, Giovambattista, Geibel JP   +3 more
openaire   +4 more sources

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene

Scientific Reports, 2021
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans.
Chin-Ju Hu, Ying-Chang Lu, Cheng-Yu Tsai, Yen-Hui Chan, Pei-Hsuan Lin, Yi-Shan Lee, I.-Shing Yu, Shu-Wha Lin, Tien-Chen Liu, Chuan-Jen Hsu, Ting-Hua Yang, Yen-Fu Cheng, Chen-Chi Wu   +12 more
doaj   +1 more source

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis

Frontiers in Pediatrics, 2023
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
doaj   +1 more source

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies [PDF]

, 2015
Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities.
Aimoni, C, Busi, M, Calzolari, F, Castiglione, Alessandro, Granieri, E, Martini, Alessandro, Minazzi, F, Rosignoli, M, Trevisi, Patrizia   +8 more
core   +9 more sources

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System. [PDF]

Mol Genet Genomic Med
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Wang Z, Bai W, Cai X, Huang S, Zeng J, Liang X, Hong X.   +6 more
europepmc   +2 more sources

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

BMC Medical Genomics, 2022
Background The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder.
Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun   +9 more
doaj   +1 more source

SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac. [PDF]

Sci Adv
Decreased presence or activity of human SLC26A4 at the plasma membrane is a common cause of hearing loss. SLC26A4 (Pendrin) is necessary for normal reabsorption of endolymph, the fluid bathing the inner ear. We identified the μ2 subunit of adaptor protein 2 (AP-2) complex required for clathrin-mediated endocytosis as a protein-partner of SLC26A4 ...
Lee HJ, Fenollar-Ferrer C, Isgrig K, Wang YX, Valente K, Eide J, Honda K, Chien WW, Petralia RS, Dong L, Friedman TB, Bonifacino JS, Griffith AJ, Roux I.   +13 more
europepmc   +3 more sources