SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants

Gut

Volumn 49, Issue 2, 2001, Pages 220-226

  Sham, M H ^a   Lui, V C H ^a   Fu, M ^a   Chen, B ^a   Tam, P K H ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Colon; Enteric nervous system; Hirschsprung's disease; Neurocristopathy; Polymorphism; SOX10

Indexed keywords

ARTICLE; GENE EXPRESSION; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; INFANT; INTESTINE INNERVATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

EID: 0034918382     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.49.2.220     Document Type: Article

References (50)

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13. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease
14. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
15. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
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20. Seven new members of the Sox gene family expressed during mouse development
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22. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
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27. A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75 and by explants grown under the kidney capsule or in organ culture
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34. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
35. Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts
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37. Nitric oxide synthase distribution in the enteric nervous system of Hirschsprung's disease
38. Nerve growth factor receptor immunostaining suggests an extrinsic origin for hypertrophic nerves in Hirschsprung's disease
39. Identification of a novel family of oligodendrocyte lineage-specific basic helix-loop-helix transcription factors
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47. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
48. Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2
49. Transcription factor hierarchy in Waardenburg syndrome: Regulation of MITF expression by SOX10 and PAX3
50. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret