DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model
Molecular Therapy - Methods and Clinical Development, 2020 The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss.
Min Goo Lee +2 more
exaly +3 more sources
Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model [PDF]
The Journal of Clinical InvestigationMutations in SLC26A4 are the second most common cause of hereditary hearing loss (HL) in many Asian countries, leading to DFNB4, a condition characterized by progressive HL and inner ear malformations.
Yi-Hsiu Tsai +7 more
doaj +2 more sources
The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants [PDF]
Journal of Biomedical ScienceBackground Pathogenic sequence alterations in the SLC26A4 gene, which encodes the solute carrier SLC26A4/pendrin, lead to Pendred syndrome and non-syndromic autosomal recessive deafness type B4 (DFNB4), two of the most common forms of hearing loss ...
Florian Huber +10 more
doaj +2 more sources
A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss [PDF]
Вавиловский журнал генетики и селекцииPathogenic variants in the SLC26A4 gene (solute carrier family 26, member 4) are a common cause of inherited hearing loss. The SLC26A4 gene encodes the transmembrane protein pendrin, a member of the SLC26 anion transporter family, with predominant ...
M. V. Zytsar +4 more
doaj +2 more sources
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review [PDF]
Audiology Research, 2021 Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Sebastian Roesch +3 more
doaj +2 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
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct [PDF]
Molecular MedicineBackground The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli +7 more
doaj +2 more sources
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 the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss [PDF]
PeerJ, 2014 Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions
Lynn M. Pique +5 more
doaj +2 more sources
Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi +7 more
doaj +1 more source