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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

15 Oct 2000

Abstract excerpt

Hirschsprung disease and Waardenburg syndrome are human genetic diseases characterized by distinct neural crest defects. Patients with Hirschsprung disease suffer from gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte function, deafness, and craniofacial abnormalities. Mutations responsible for Hirschsprung disease and Waardenburg syndrome have been identified, and...

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PMID: 11032856
DOI: 10.1172/jci10828

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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-retPMID 11032856Read ↗

The role of SOX10 during enteric nervous system development.Semantic proximity Read ↗

The developmental etiology and pathogenesis of Hirschsprung disease.Semantic proximity Read ↗

Meis3 is required for neural crest invasion of the gut during zebrafish enteric nervous system developmentSemantic proximity Read ↗

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.Semantic proximity Read ↗

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Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.Semantic proximity Read ↗

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.Semantic proximity Read ↗

The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10Semantic proximity Read ↗

Building a brain in the gut: development of the enteric nervous systemSemantic proximity Read ↗

Literature review: enteric nervous system development, genetic and epigenetic regulation in the etiology of Hirschsprung's diseaseSemantic proximity Read ↗

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