ArticleProceedings of the National Academy of Sciences of the United States of America1998
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
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Who cites it
113 citing papers in PubMed, 357 citations in OpenAlex.
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- Epigenetic Remodeling of Regulatory Regions by Indicaxanthin Suggests a Shift in Cell Identity Programs in Colorectal Cancer Cells.International journal of molecular sciences · 2025Article
- Sox8: a multifaceted transcription factor in development and disease.Biology open · 2025Review
- Sox10 is required for systemic initiation of bone mineralization.Development (Cambridge, England) · 2025Article
- A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.Molecular biology reports · 2024Article
- Clinical Significance of SOX10 Expression in Human Pathology.Current issues in molecular biology · 2023Review
- BiallelicNeurology. Genetics · 2023Article
- SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Recent advances in the regulation mechanism ofJournal of otology · 2022Review
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.BMJ case reports · 2022Article
- SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Journal of medical genetics · 2022Review
- Transgenic fluorescent zebrafish lines that have revolutionized biomedical research.Laboratory animal research · 2021Review
- The enteric nervous system in gastrointestinal disease etiology.Cellular and molecular life sciences : CMLS · 2021Review
- Diagnosing Hirschsprung disease by detecting intestinal ganglion cells using label-free hyperspectral microscopy.Scientific reports · 2021Article
- On the road again: Establishment and maintenance of stemness in the neural crest from embryo to adulthood.Stem cells (Dayton, Ohio) · 2021Review
- SOX10 Knockdown Inhibits Melanoma Cell Proliferation via Notch Signaling Pathway.Cancer management and research · 2021Article
- Article
- The transcription factor Sox10 is an essential determinant of branching morphogenesis and involution in the mouse mammary gland.Scientific reports · 2020Article
- Using genomic resources for linkage analysis in Peromyscus with an application for characterizing Dominant Spot.BMC genomics · 2020Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (i) colocalization of the Sox10 gene with the Dom mutation on chromosome 15; (ii) altered Sox10 expression in the gut and in neural-crest derived structures of cranial ganglia of Dom mice; (iii) presence of a frameshift in the Sox10 coding region, and (iv) functional inactivation of the resulting truncated protein. These results identify the transcriptional regulator Sox10 as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome.
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