Results 161 to 170 of about 7,226 (202)

Novel mutations in the SLC26A4 gene

International Journal of Pediatric Otorhinolaryngology, 2012
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. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other ...
Busi M, CASTIGLIONE, ALESSANDRO, Taddei Masieri M, Ravani A, Guaran V, ASTOLFI, LAURA, TREVISI, PATRIZIA, Ferlini A, MARTINI, ALESSANDRO   +8 more
openaire   +3 more sources

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients

Hormone and Metabolic Research, 2017
AbstractCurrent study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population.
Sourav, Mukherjee, Manalee, Guha, Bidisha, Adhikary, Biswabandhu, Bankura, Pubali, Mitra, Subhankar, Chowdhury, Madhusudan, Das   +6 more
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Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan

Metabolism, 2007
Pendred syndrome (PS) is an autosomal recessive disease that is characterized by congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In this study, we characterized the thyroid status and identified mutations in the SLC26A4 gene in Chinese subjects with PS.
Chien-Chung, Lai, Chih-Yang, Chiu, An-Suey, Shiao, Yi-Chu, Tso, Yi-Chi, Wu, Tzong-Yang, Tu, Tjin-Shing, Jap   +6 more
openaire   +2 more sources

Two missense mutations in SLC26A4 gene: a molecular and functional study

Clinical Genetics, 2010
Ben Rebeh I, Yoshimi N, Hadj‐Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S and Miyazaki H. Two missense mutations in SLC26A4 gene: a molecular and functional study.Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non‐syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS ...
I Ben, Rebeh, N, Yoshimi, H, Hadj-Kacem, S, Yanohco, B, Hammami, M, Mnif, M, Araki, A, Ghorbel, H, Ayadi, S, Masmoudi, H, Miyazaki   +10 more
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An association study of the SLC26A4 gene in children with mental retardation

Neuroscience Letters, 2009
It is generally considered that iodine deficiency is the single most common cause of preventable mental retardation (MR) and brain damage. The SLC26A4 gene is expressed at the apical surface of thyrocytes and its product forms an efficient iodide-trapping mechanism.
Jun, Li, Fuchang, Zhang, Jianjun, Gao, Zhen, Cai, Qian, Zhao, Yi, Xing, Jie, Xu, Yun, Liu, Liyan, Shao, Ronglin, Che, Zhiyun, Wei, Lin, He   +11 more
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Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay

Gene, 2017
The SLC26A4 genomic sequence screening in autoimmune thyroid diseases (AITD) revealed different variants types with possible pathogenic effects. Although intronic variants may have more detrimental effects than those coding, they are poorly explored. Thus, in a first assessment, our bioinformatics analysis of intronic variants predicted a pathogenic ...
Rihab, Kallel-Bouattour, Salima, Belguith-Maalej, Emna, Zouari-Bradai, Mouna, Mnif, Mohamed, Abid, Hassen, Hadj Kacem   +5 more
openaire   +2 more sources

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children

International Journal of Pediatric Otorhinolaryngology, 2012
To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA)
Xiangyang, Hu, Fenghe, Liang, Min, Zhao, Angela, Gong, Emily R, Berry, Yang, Shi, Yanxiao, Wang, Yan, Chen, Aishu, Liu, Chunyan, Qu   +9 more
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GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

Cell Biochemistry and Biophysics, 2015
Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness.
Yuan, Fang, Maosheng, Gu, Chuanxia, Wang, Feng, Suo, Guangming, Wang, Yujuan, Xia   +5 more
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Goiter Caused by SLC26A4 Gene Mutation

The Endocrinologist, 2010
Abstract: We report and discuss a case of a young woman with a massive goiter, which was attributed to a rare genetic disorder. We review the history and diagnostic tests including radiology, blood tests, and genetic results. Diagnostic tests revealed a large goiter, dilated vestibular aqueduct, mondini dysplasia, and a positive genetic test for ...
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A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome

International Journal of Pediatric Otorhinolaryngology, 2013
To investigate the mutations in the SLC26A4 gene in a Chinese patient with Pendred syndrome.The diagnosis of Pendred syndrome was confirmed by the family history, pure tone audiogram, perchlorate discharge test (PDT), and computed tomography (CT) of the temporal bone.
Chun-Jui, Huang, Tsun-Hsing, Lei, Wei-Lun, Chang, Tzong-Yang, Tu, An-Suey, Shiao, Chih-Yang, Chiu, Tjin-Shing, Jap   +6 more
openaire   +2 more sources