Results 181 to 190 of about 8,863 (195)

SLC26A4 mutations are associated with a specific inner ear malformation

International Journal of Pediatric Otorhinolaryngology, 2007
Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia.
FİTOZ, ÖMER SUAT, Cengiz, FİLİZ BAŞAK, Tekin, Mustafa, Koc, Yasemin, Incesulu, Armagan, Sennaroglu, Levent   +5 more
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Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct

International Journal of Pediatric Otorhinolaryngology, 2020
Mutations of the SLC26A4 gene causing enlarged vestibular aqueduct (EVA) syndrome have not yet been fully elucidated. The study aimed to investigate SLC26A4 mutations in patients with EVA syndrome in the Turkish population. Identifying these mutations may play an essential role in determining the prognosis, follow-up, and management options of these ...
Kubilay Kınoğlu, Kadir Serkan Orhan, Hakan Kara, Oğuz Öztürk, Beldan Polat, Hülya Aydoğan, Mehmet Çelik, Ayşe Begüm Ceviz, Yahya Güldiken   +8 more
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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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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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Genetic testing for deafness—GJB2 and SLC26A4 as causes of deafness

Journal of Communication Disorders, 2002
Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge will enhance patient care by making the diagnosis of hereditary deafness easier; however physicians and audiologists must clearly identify that subset of the deaf and hearing populations ...
Richard J H, Smith, Nathaniel H, Robin
openaire   +2 more sources

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
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A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment

Otology & Neurotology, 2017
Background: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic sensorineural hearing impairment (HI) implying the involvement of additional genetic factors.
Axel, Wolf, Alexandra, Frohne, Matthew, Allen, Thomas, Parzefall, Martin, Koenighofer, Markus M, Schreiner, Christian, Schoefer, Klemens, Frei, Trevor, Lucas   +8 more
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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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Pure Gitelman-like syndrome secondary to SLC26A4 (pendrin) mutation

Kidney International, 2021
Trepiccione, Francesco, Suzumoto, Yoko, Perna, Alessandro, Capasso, Giovambattista   +3 more
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Anion exchangers DTDST (SLC26A2), DRA (SLC26A3), and pendrin (SLC26A4)

2003
This chapter is devoted to a group of structurally related membrane transporters that lead to a variety of different diseases affecting different organs in the body arising from defect s in cell surface (plasma membrane) anion transport. This famil y of proteins, designated /ldsulfate transporters” based on their function, belongs to the Human Genome ...
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