Results 31 to 40 of about 7,226 (202)

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   +1 more source

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants. [PDF]

Otolaryngol Head Neck Surg
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Vigouroux A, Glemain B, Torres R, Jonard L, Loundon N, Ferrary E, Mosnier I, Daoudi H, Marlin S, Lahlou G.   +9 more
europepmc   +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

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

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   +1 more source

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Nature Communications, 2020
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations.
Mengnan Li, Shin-ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M. Smith, Leanne T. Cooper, Min Goo Lee, Masahide Asano, Thomas Boettger, Marcus Krueger, Astrid Wietelmann, Johannes Graumann, Bryan W. Day, Andrew W. Boyd, Stefan Offermanns, Shin-ichiro Kitajiri, Shin-ichi Usami, Masanori Nakayama   +21 more
doaj   +1 more source

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   +1 more source

Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate [PDF]

, 2005
Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.
Fowler, Bruce A., Murray, H. Edward, Scinicariello, Franco, Smith, Lester, Wilbur, Sharon   +4 more
core   +2 more sources

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients [PDF]

International Journal of Pediatric Otorhinolaryngology, 2008
Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population.We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes in 22 hearing loss patients.
K Y, Lee, S Y, Choi, J W, Bae, S, Kim, K W, Chung, D, Drayna, U K, Kim, S H, Lee   +7 more
openaire   +2 more sources

Caratterizzazione della mutazione SLC26A4 c.918+2T>C e report di una nuova variante potenzialmente a rischio [PDF]

Acta Otorhinolaryngologica Italica, 2016
La sindrome di Pendred è, in ordine di frequenza, la seconda causa di ipoacusia su base genetica autosomica recessiva. Si manifesta con un ipoacusia accompagnata dalla presenza di un gozzo tiroideo con eventuale ipotiroidismo.
A.C. Gonçalves, R. Santos, A. O’Neill, P. Escada, G. Fialho, H. Caria   +5 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