Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia) [PDF]
Вавиловский журнал генетики и селекцииPathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world.
V. Yu. Danilchenko +4 more
doaj +2 more sources
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects [PDF]
BMC Medical Genetics, 2018 Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose +5 more
doaj +3 more sources
Journal of Translational Medicine, 2012 Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong +6 more
doaj +3 more sources
Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene
Stem Cell Research, 2022 The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene.
SiJun Li +9 more
doaj +3 more sources
Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan [PDF]
Frontiers in PediatricsObjectiveTo analyze the prevalence and mutation spectrum of deafness-associated genes among newborns in Anyang City.MethodsHeel blood samples were collected from 15,771 newborns.
Yanchao Mu +10 more
doaj +2 more sources
SLC26A4 regulates autophagy and activates the NLRP3 inflammasome to mediate pathological cardiac hypertrophy [PDF]
Scientific ReportsSolute carrier family 26 member 4 (SLC26A4) plays an essential role in the progression of pathological cardiac hypertrophy. This study aimed to examine the involvement of SLC26A4 in cardiac hypertrophy by regulation of autophagy and activation of the NOD-
Li-qun Tang +3 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
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss. [PDF]
Int J Mol Sci, 2022 Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the SLC26A4 gene (20 coding exons) predetermines the difficulties of its complete mutational analysis, especially in large ...
Danilchenko VY +3 more
europepmc +3 more sources
Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs. [PDF]
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
SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development [PDF]
Molecular Genetics & Genomic MedicineBackground SLC26A4 is the second most common cause of hereditary hearing loss worldwide. This gene predominantly harbors pathogenic variants, including splice, nonsense, and missense.
Yijing Li +8 more
doaj +2 more sources