ArticleFrontiers in molecular neuroscience2018
Key Genes and Pathways Associated With Inner Ear Malformation in SOX10
Article in Frontiers in molecular neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Vestibular Deficit in Patients with Waardenburg Syndrome.Biomedicines · 2025Article
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- The long and short: Non-coding RNAs in the mammalian inner ear.Hearing research · 2023Review
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.BMC medical genomics · 2022Article
- Recent advances in the regulation mechanism ofJournal of otology · 2022Review
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.Molecular neurobiology · 2022Article
- The noncoding genome and hearing loss.Human genetics · 2022Review
- SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Journal of medical genetics · 2022Review
- A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With aFrontiers in cell and developmental biology · 2021Article
- Viewing the current situation of pig model application in China's medical field from the application and funding of NSFC.Journal of otology · 2021Review
- Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.Frontiers in neurology · 2021Review
- Recent development of AAV-based gene therapies for inner ear disorders.Gene therapy · 2020Review
- A Novel Spontaneous Mutation of theNeural plasticity · 2020Article
- Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome.Neural plasticity · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SRY-box 10 (SOX10) mutation may lead to inner ear deformities. However, its molecular mechanisms on inner ear development are not clear. In this work, the inner ear morphology was investigated at different embryonic stages of the SOX10 mutation miniature porcine model with sensorineural hearing loss, and high-throughput RNA-seq and bioinformatics analyses were applied. Our results indicated that the SOX10 mutation in the miniature pigs led to an incomplete partition (IP) of the cochlea, a cystic apex caused by fusion from middle and apical turns, cochlear modiolar defects and a shortened cochlear duct. The model demonstrated 173 differentially expressed genes (DEGs) and 185 differentially expressed long non-coding RNAs (lncRNAs). The down-regulated DEGs most significantly enriched the inflammatory mediator regulation of the TRP channels, arachidonic acid metabolism, and the salivary secretion pathways, while the up-regulated DEGs most significantly enriched the systemic lupus erythematosus and alcoholism pathways. Based on gene cluster analysis, we selected four gene groups: WNT1, KCNQ4, STRC and PAX6.
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