Results 11 to 20 of about 7,994 (153)

SLC26A4-AS1 Agrava a Hipertrofia Cardíaca Induzida por AngII Aumentando a Expressão de SLC26A4

Arquivos Brasileiros de Cardiologia, 2023
Resumo Fundamento Foi relatado que o RNA 1 antisenso 1 (SLC26A4-AS1) do membro 4 da família de transportadores de soluto 26 está altamente relacionado à hipertrofia cardíaca. Objetivo Esta pesquisa visa investigar o papel e o mecanismo específicos de
Xiaoliang Han, Chao Li, Qinjiong Ji, Ling Zhang, Xiaofei Xie, Huijuan Shang, Hong Ye   +6 more
doaj   +3 more sources

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   +2 more sources

Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. [PDF]

PLoS ONE, 2014
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms.
Ying-Chang Lu, Chen-Chi Wu, Ting-Hua Yang, Yin-Hung Lin, I-Shing Yu, Shu-Wha Lin, Qing Chang, Xi Lin, Jau-Min Wong, Chuan-Jen Hsu   +9 more
doaj   +2 more sources

Diagnostic Value of Plasma Long Non-coding SLC26A4 Antisense RNA 1 Combined with Magnetic Resonance Imaging in Rectal Cancer

The Turkish Journal of Gastroenterology
Background/Aims: The prevalence of rectal cancer is increasing every year due to changes in living and eating habits. Early diagnosis contributes to the treatment and survival of patients.
Zhiqian Li, Mei Pu, Peng Zhou, Tao Zhang, Yang Xu, Yusui Zhang   +5 more
doaj   +2 more sources

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. [PDF]

PLoS ONE, 2011
Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations may have different pathogenetic mechanisms.
Ying-Chang Lu, Chen-Chi Wu, Wen-Sheng Shen, Ting-Hua Yang, Te-Huei Yeh, Pei-Jer Chen, I-Shing Yu, Shu-Wha Lin, Jau-Min Wong, Qing Chang, Xi Lin, Chuan-Jen Hsu   +11 more
doaj   +2 more sources

SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. [PDF]

PLoS Genetics, 2013
Mutations of SLC26A4 are a common cause of human hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea, the vestibular labyrinth and the ...
Xiangming Li, Joel D Sanneman, Donald G Harbidge, Fei Zhou, Fei Zhou, Taku Ito, Raoul Nelson, Nicolas Picard, Régine Chambrey, Dominique Eladari, Tracy Miesner, Andrew J Griffith, Daniel C Marcus, Philine Wangemann   +13 more
doaj   +2 more sources

Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs.

PLoS ONE
Pendred syndrome and autosomal recessive non-syndromic hearing loss, type 4 (DFNB4), are associated with mutations in SLC26A4 that encodes the anion transporter SLC26A4 (pendrin).
Keiji Honda, Akimasa Kajino, Takeshi Tsutsumi   +2 more
doaj   +2 more sources

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Archives of Endocrinology and Metabolism, 2016
Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen   +13 more
doaj   +2 more sources

Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.

PLoS ONE, 2013
Slc26a4 (Δ/Δ) mice are deaf, develop an enlarged membranous labyrinth, and thereby largely resemble the human phenotype where mutations of SLC26A4 cause an enlarged vestibular aqueduct and sensorineural hearing loss.
Xiangming Li, Fei Zhou, Daniel C Marcus, Philine Wangemann   +3 more
doaj   +2 more sources

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct [PDF]

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +2 more sources