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• W2039790417 abstract "Hirschsprung disease (HSCR) is a multigenic, congenital disorder that affects 1 in 5,000 newborns and is characterized by the absence of neural crest–derived enteric ganglia in the colon1. One of the primary genes affected in HSCR encodes the G protein–coupled endothelin receptor-B (EDNRB)2,3. The expression of Ednrb is required at a defined time period during the migration of the precursors of the enteric nervous system (ENS) into the colon4. In this study, we describe a conserved spatiotemporal ENS enhancer of Ednrb. This 1-kb enhancer is activated as the ENS precursors approach the colon, and partial deletion of this enhancer at the endogenous Ednrb locus results in pigmented mice that die postnatally from megacolon. We identified binding sites for SOX10, an SRY-related transcription factor associated with HSCR5, in the Ednrb ENS enhancer, and mutational analyses of these sites suggested that SOX10 may have multiple roles in regulating Ednrb in the ENS." @default.
• W2039790417 created "2016-06-24" @default.
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• W2039790417 date "2004-05-30" @default.
• W2039790417 modified "2023-09-23" @default.
• W2039790417 title "Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest–derived enteric neuron precursors" @default.
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• W2039790417 doi "https://doi.org/10.1038/ng1371" @default.
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• W2039790417 hasPublicationYear "2004" @default.
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