Associated Papers
Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.
Tsai YH et al.
The Journal of Clinical Investigation, 2026
Caste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.
Bhinder MA et al.
Journal of Tropical Pediatrics, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.
Guan R et al.
European Journal of Pediatrics, 2025
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 2025
Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.
Bernardinelli E et al.
International Journal of Molecular Medicine, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Kernohan KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2025
Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
Zhuang B et al.
The Laryngoscope, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
AAV-mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives.
Zhang L et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.
Gombojav B et al.
Genes, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Wener ER et al.
The Laryngoscope, 2024
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2024
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment.
Ketterer MC et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2023
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Danilchenko VY et al.
Genes, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
Bałdyga N et al.
Genes, 2023
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Molecular Features of SLC26A4 Common Variant p.L117F.
Matulevičius A et al.
Journal of Clinical Medicine, 2022
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
Theng EH et al.
Orphanet Journal of Rare Diseases, 2022
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.
He X et al.
Bmc Medical Genomics, 2022
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.
Cinleti T et al.
Molecular Syndromology, 2022
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ et al.
Human Genetics, 2022
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Zhang CR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants.
Byun JC et al.
Children (basel, Switzerland), 2022
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
Hu CJ et al.
Scientific Reports, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.
Hu CJ et al.
International Journal of Molecular Sciences, 2021
Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.
Renauld JM et al.
Current Protocols, 2021
Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients.
Nisenbaum E et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia.
Dror AA et al.
Genes, Brain, and Behavior, 2020
Development of in-house genetic screening for pediatric hearing loss.
Doerfer KW et al.
Laryngoscope Investigative Otolaryngology, 2020
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Li M et al.
Nature Communications, 2020
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Mutation analysis of the SLC26A4 gene in three Chinese families.
Wen C et al.
Bioscience Trends, 2019
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y et al.
The Journal of International Advanced Otology, 2019
A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.
Wen Z et al.
Biochemical and Biophysical Research Communications, 2019
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S et al.
Acta Oto-laryngologica, 2019
The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Chiong CM et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2018
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
Roesch S et al.
International Journal of Molecular Sciences, 2018