Results 41 to 50 of about 2,527,901 (173)
The Influence of Mutations in the SLC26A4 Gene on the Temporal Bone in a Population With Enlarged Vestibular Aqueduct [PDF]
Archives of Otolaryngology–Head & Neck Surgery, 2007 To correlate genetic and audiometric findings with a detailed radiologic analysis of the temporal bone in patients with enlarged vestibular aqueduct (EVA) to ascertain the contribution of SLC26A4 gene mutations to this phenotype.A retrospective review of patients with EVA identified in a database of pediatric hearing-impaired patients.A tertiary care ...
Colm, Madden +12 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 +5 more
doaj +1 more source
Investigation of GJB2 and SLC26A4 genes related to pendred syndrome genetic deafness patients
Cellular, Molecular and Biomedical Reports, 2023 Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A4 genes are one of the most important causes of deafness in the world, which causes syndromic and non ...
Al-Zaidi, Haider Majid Haider +5 more
openaire +3 more sources
Stem Cell Research, 2019 SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 ...
Yen-Fu Cheng +12 more
doaj +1 more source
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism [PDF]
, 2020 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 +15 more
core +2 more sources
Association of intronic repetition of SLC26A4 gene with Hashimoto thyroiditis disease
Genetics Research, 2013 SummaryIntronic microsatellites repeats were implicated in the pathogenic mechanisms of several diseases. SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease (AITD), harbours large non-coding introns. Using the tandem repeat finder (TRF) Software, two new polymorphic microsatellite markers, rs59736472 and rs57250751 ...
Salima, Belguith-Maalej +5 more
openaire +2 more sources
Elevated SLC26A4 gene promoter methylation is associated with the risk of presbycusis in men
Molecular Medicine Reports, 2017 Presbycusis affects approximately one-third of people over the age of 65 and is a worldwide health problem. In the current study, whether the methylation level of solute carrier family 26 member 4 (SLC26A4) predicted an increased risk of presbycusis was investigated.
Jin, Xu +11 more
openaire +3 more sources
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein [PDF]
European Journal of Endocrinology, 2007 Objective: Pendred syndrome (PS) is characterized by the association of sensorineural hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is caused by mutations in the SLC26A4 gene. The encoded transmembrane protein, called pendrin, has been found to be able to transport chloride and other anions.
L. Fugazzola +10 more
openaire +3 more sources
BMC Research Notes, 2018 Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho +6 more
doaj +1 more source
Bihdād, 2020 Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene.
Omid Rezaei +2 more
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