ReviewJournal of medical genetics2022
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Review in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 101 citations in OpenAlex.
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Myelination and Remyelination in Peripheral Nerve Injury: Mechanisms, Regulation, and Therapeutic Perspectives.MedComm · 2026Review
- Culture and gene expression profiling of Schwann cells from human sural nerve.Communications biology · 2026Article
- SOX10 distinguishes oligodendrogliomas from low-grade glioneuronal tumors/low-grade gliomas with oligodendrocyte-like features.The journal of pathology. Clinical research · 2026Article
- ERBB2/ERBB3‑mutated S100/SOX10‑positive high‑grade uterine sarcoma-a case report on a rare entity.Virchows Archiv : an international journal of pathology · 2026Article
- Combinatorial expression of glial transcription factors induces Schwann cell-specific gene expression in mouse embryonic fibroblasts.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Foxg1 regulates the development of microvillous cells in the olfactory epithelium.Developmental biology · 2026Article
- Integrative transcriptomic analysis reveals novel targets for personalized medicine across seven metastatic breast cancer subtypes.Scientific reports · 2026Article
- Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.Neurogastroenterology and motility · 2025Article
- Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.Scientific reports · 2025Article
- Refining the Sox10Animal models and experimental medicine · 2025Article
- Cancer cell plasticity and therapeutic resistance: mechanisms, crosstalk, and translational perspectives.Hereditas · 2025Review
- A multi-omic atlas of human autonomic and sensory ganglia implicates cell types in peripheral neuropathies.bioRxiv : the preprint server for biology · 2025Article
- Mapping of the hSOX10 protein interactome in human melanoma.bioRxiv : the preprint server for biology · 2025Article
- Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.Molecular genetics & genomic medicine · 2025Article
- Vestibular Deficit in Patients with Waardenburg Syndrome.Biomedicines · 2025Article
- [Mechanisms of enhanced noise susceptibility in waardenburg syndromeLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.International journal of molecular sciences · 2025Article
- Epigenetic Remodeling of Regulatory Regions by Indicaxanthin Suggests a Shift in Cell Identity Programs in Colorectal Cancer Cells.International journal of molecular sciences · 2025Article
- Histone and non-histone lactylation: molecular mechanisms, biological functions, diseases, and therapeutic targets.Molecular biomedicine · 2025Review
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have been reported in Waardenburg syndrome type 2 (Waardenburg syndrome type without Hirschsprung disease), PCWH or PCW (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, with or without Hirschsprung disease), intestinal manifestations beyond Hirschsprung (ie, chronic intestinal pseudo-obstruction), Kallmann syndrome and cancer. All of these diseases are consistent with the regulatory role of SOX10 in various neural crest derivatives (melanocytes, the enteric nervous system, Schwann cells and olfactory ensheathing cells) and extraneural crest tissues (inner ear, oligodendrocytes). The recent evolution of medical practice in constitutional genetics has led to the identification of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.