ArticleGut2001
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.
Article in Gut, 2001. 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, 42 citations in OpenAlex.
- Associations ofBioscience reports · 2019Trial
- The gut microbiota-enteric nervous system axis: from bidirectional programming to precision therapeutics in digestive diseases.Frontiers in cellular and infection microbiology · 2026Review
- Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.Neurogastroenterology and motility · 2025Article
- Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.BMC pediatrics · 2024Article
- The enteric nervous system in gastrointestinal disease etiology.Cellular and molecular life sciences : CMLS · 2021Review
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.Bioscience reports · 2020Article
- Sox10 Is a Specific Biomarker for Neural Crest Stem Cells in Immunohistochemical Staining in Wistar Rats.Disease markers · 2020Article
- Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood.Clinical and translational gastroenterology · 2019Article
- [Effect of enhancer of zeste homolog 2 on the expression of glial cell line-derived neurotrophic factor family receptor α-1 in the colon tissue of children with Hirschsprung's disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Case of Waardenburg Shah syndrome in a family with review of literature.Journal of otology · 2018Review
- Ablation of Ezh2 in neural crest cells leads to aberrant enteric nervous system development in mice.PloS one · 2018Article
- SOX10 is over-expressed in bladder cancer and contributes to the malignant bladder cancer cell behaviors.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017Article
- A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.PloS one · 2014Article
- Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.Oncogene · 2003Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome.
aimsTo understand the molecular basis for the pathogenesis of HD we intended to determine the specific cell lineages in the enteric nervous system which normally express SOX10 but are affected in disease conditions.
methodsWe studied colon biopsies from 10 non-syndromic HD patients, aged three months to four years, and 10 age matched patients without HD as normal controls. The absence of mutation in the SOX10 gene of HD patients was confirmed by DNA sequencing. Expression and cellular distribution of SOX10 in bowel segments of normal and HD infants were examined by reverse transcription-polymerase chain reaction and in situ hybridisation.
resultsWe found that in normal infants and normoganglionic bowel segments of HD patients, SOX10 was expressed in both neurones and glia of the enteric plexuses and in the nerves among the musculature in normal colon. In the aganglionic bowel segments of patients, SOX10 expression was consistently lower and was found to be associated with the hypertrophic nerve trunks in the muscle and extrinsic nerves in the serosa.
conclusionWe conclude that SOX10 is normally required postnatally in the functional maintenance of the entire enteric nervous system, including neurones and glia. In non-syndromic HD patients who do not have the SOX10 mutation, the SOX10 gene expressed in the sacral region may be involved in the pathogenesis of the abnormal nerve trunks through interaction with other factors.
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