Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.
Jagannath K et al.
Molecular Biology Reports, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China.
Duan S et al.
International Journal of Pediatric Otorhinolaryngology, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Sansović I et al.
Croatian Medical Journal, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Ramzan M et al.
European Journal of Human Genetics : Ejhg, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 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
The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients.
Wang Q et al.
Acta Oto-laryngologica, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout T et al.
Genes, 2022
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
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
Souissi A et al.
Human Genetics, 2022
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A 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
Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China.
Guomei C et al.
Computational and Mathematical Methods in Medicine, 2022
SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl- Transport, and Inhibiting PI3K/Akt/mTOR Pathway.
Dai X et al.
Biomed Research International, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2021
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 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
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Wasano K et al.
Human Mutation, 2020
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Sayeb M et al.
International Journal of Dermatology, 2019
A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population.
Koohiyan M
International Journal of Pediatric Otorhinolaryngology, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019