Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.
Huang CY et al.
Gene Therapy, 2024
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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development.
Perl E et al.
Hgg Advances, 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
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 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
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng J et al.
Human Mutation, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY 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
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang H et al.
Bmc Medical Genomics, 2021
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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Mutation analysis of the SLC26A4 gene in three Chinese families.
Wen C et al.
Bioscience Trends, 2019
A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population.
Koohiyan M
International Journal of Pediatric Otorhinolaryngology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S et al.
Acta Oto-laryngologica, 2019
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R et al.
Bmc Medical Genomics, 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
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.
Zhao X et al.
Bioscience Trends, 2018
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P et al.
Journal of Medical Genetics, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.
Yan D et al.
Plos One, 2017
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
de Moraes VCS et al.
Molecular Medicine (cambridge, Mass.), 2016
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.
Ajij M et al.
Journal of Tropical Pediatrics, 2016
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma.
Tong GX et al.
Endocrine Pathology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
Svidnicki MC et al.
Bmc Medical Genetics, 2015