Results 71 to 80 of about 8,863 (195)

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

BMC Medical Genomics, 2022
Background To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed.
Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang   +5 more
doaj   +1 more source

Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]

, 2008
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez, Barra, Gustavo Barcelos, Batista, Ana R. T., Cherulli, Bruno Luis Barbosa, Costa, Patrícia Godoy Garcia, Figueiredo, Larissa Pereira Gomes, Freitas, Ana Carolina Rezende de, Garcia, Érica Correia, Motta, Luiz Augusto Casulari Roxo da, Nascimento, Paula P., Neves, Francisco de Assis Rocha, Porto, Adriana Lofrano Alves, Vaz, Rodrigo Ferreira   +12 more
core   +1 more source

Identification of IQGAP1 as a SLC26A4 (Pendrin)-Binding Protein in the Kidney

Frontiers in Molecular Biosciences, 2022
Background: Several members of the SLC26A family of transporters, including SLC26A3 (DRA), SLC26A5 (prestin), SLC26A6 (PAT-1; CFEX) and SLC26A9, form multi-protein complexes with a number of molecules (e.g., cytoskeletal proteins, anchoring or adaptor proteins, cystic fibrosis transmembrane conductance regulator, and protein kinases).
Jie Xu, Jie Xu, Sharon Barone, Sharon Barone, Sharon Barone, Mujan Varasteh Kia, L. Shannon Holliday, Kamyar Zahedi, Kamyar Zahedi, Kamyar Zahedi, Manoocher Soleimani, Manoocher Soleimani, Manoocher Soleimani   +12 more
openaire   +3 more sources

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

Molecular Genetics & Genomic Medicine, 2021
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most ...
Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang   +22 more
doaj   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]

, 2015
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina, de Groot, John CMJ, Frijns, Johan HM, Huisman, Margriet A, Locher, Heiko, van Iperen, Liesbeth   +5 more
core   +2 more sources

Abstract Supplement

Pulmonary Medicine, Volume 2026, Issue 1, 2026.
 
Marzia Folegani, Semonti Nandi
wiley   +1 more source

Targeted expression of SLC26A4 rescues hearing and balance in Slc26a4 ^Δ/Δ mice

The FASEB Journal, 2013
Mutations of SLC26A4 are a common cause for deafness associated with enlarged vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea and the vestibular labyrinth ...
Philine Wangemann, Xiangming Li, Joel Sanneman, Fei Zhou, Donald G. Harbidge, Raoul D. Nelson, Régine Chambrey, Dominique Eladari, Tracy Miesner, Daniel C. Marcus   +9 more
openaire   +1 more source

Single‐Cell Transcriptomics Reveals ITGA2‐Mediated Metabolic Reprogramming and Immune Crosstalk in Pediatric Thyroid Carcinogenesis

Advanced Science, Volume 12, Issue 45, December 4, 2025.
This study unveils ITGA2⁺ tumor cells as key drivers of pediatric thyroid cancer aggressiveness. These cells orchestrate dual oncogenic pathways: GLUT1‐mediated glycolytic reprogramming and M2 macrophage polarization. This metabolic‐immunological crosstalk promotes tumor progression and metastasis.
Zhi‐jun Zhan, Ning Li, Yan Sun, Lu Chen, Jun‐da Yin, Yun‐han Shan, Jia‐xing Zeng, Zhe‐cheng Li, Hai‐long Tan, Neng Tang, Shi Chang, Peng Huang   +11 more
wiley   +1 more source