Results 21 to 30 of about 7,994 (153)

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Journal of Translational Medicine, 2012
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 Asian populations.
Li Qi, Zhu Qing-wen, Yuan Yong-yi, Huang Sha-sha, Han Dong-yi, Huang De-liang, Dai Pu   +6 more
doaj   +2 more sources

SLC26A4 regulates autophagy and activates the NLRP3 inflammasome to mediate pathological cardiac hypertrophy

Scientific Reports
Solute carrier family 26 member 4 (SLC26A4) plays an essential role in the progression of pathological cardiac hypertrophy. This study aimed to examine the involvement of SLC26A4 in cardiac hypertrophy by regulation of autophagy and activation of the NOD-
Li-qun Tang, Ling-ling Wang, Qi-feng Tang, Wei Wang   +3 more
doaj   +2 more sources

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct [PDF]

Journal of Translational Medicine, 2012
Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu   +6 more
doaj   +2 more sources

Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants

Scientific Reports
To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants.
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami   +3 more
doaj   +2 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

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

SLC26A4-AS1 Aggravates AngII-induced Cardiac Hypertrophy by Enhancing SLC26A4 Expression

, 2023
Background It has been reported that solute carrier family 26 members 4 antisense RNA 1 (SLC26A4-AS1) is highly related to cardiac hypertrophy. Objective This research aims to investigate the role and specific mechanism of SLC26A4-AS1 in cardiac ...
Huijuan Shang (15341132), Chao Li (145513), Xiaofei Xie (5831399), Ling Zhang (18071), Xiaoliang Han (3369182), Hong Ye (460576), Qinjiong Ji (15341129)   +6 more
core   +1 more source

Novel mutations in the SLC26A4 gene

, 2012
Objectives Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness.
Busi M, Guaran V, Ravani A, Ferlini A, Martini A., Taddei Masieri M, Trevisi P, Castiglione A, Astolfi L   +8 more
core   +3 more sources

Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity [PDF]

, 2006
Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by sensorineural hearing loss, often associated with mild thyroid, dysfunction and goiter.
S. Rodighiero, P. Zorowka, C. Sironi, L. Fugazzola, V. Vezzoli, J. Furst, C. Bazzini, G. Meyer, M. Garavaglia, L. Persani, P. Beck Peccoz, C. Storelli, S. Dossena, G. Botta, M. Paulmichl, M. Ritter   +15 more
core   +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