Scientific ReportsTo investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants.
Keita Tsukada +3 more
doaj +2 more sources
Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene. [PDF]
Pediatr Rep, 2021 Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism.
Calcaterra V +6 more
europepmc +6 more sources
Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs.
PLoS ONEPendred 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 +2 more
doaj +2 more sources
Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome [PDF]
Case Reports in EndocrinologyWe described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal ...
Valeria Calcaterra +9 more
doaj +2 more sources
Downregulation of GJB2 and SLC26A4 Genes Induced by Noise Exposure is Associated with Cochlear Damage [PDF]
Molecular Biology Reports, 2021 Abstract Noise can change the pattern of gene expression inducing sensorineural hearing impairment. There is no investigation on effects of noise frequency on the expression of GJB2 and SLC26A4 genes involved in congenital hearing impairment in cochlear tissue.
Amir Abbasi Garmaroudi +5 more
openaire +2 more sources
SLC26A4-AS1 Aggravates AngII-induced Cardiac Hypertrophy by Enhancing SLC26A4 Expression
, 2023 Background It has been reported that solute carrier family 26 members 4 antisense RNA 1 (SLC26A4-AS1) is highly related to cardiac hypertrophy. Objective This research aims to investigate the role and specific mechanism of SLC26A4-AS1 in cardiac ...
Huijuan Shang (15341132) +6 more
core +1 more source
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 +7 more
openaire +2 more sources
Molecular Genetics & Genomic Medicine, 2020 Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou +11 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 +11 more
doaj +1 more source
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 +7 more
doaj +1 more source