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Joint disruption of <i>Ret</i> and <i>Ednrb</i> transcription drives cell fate reversal in the Enteric Nervous System in Hirschsprung disease

2025-03-11

Abstract excerpt

Despite extensive genetic heterogeneity, 72% of pathogenic alleles for Hirschsprung disease (HSCR) arise from coding and regulatory variants in genes of the RET and EDNRB gene regulatory network (GRN) in the enteric nervous system (ENS). Reduced signaling of these two receptors below a threshold in enteric neural crest-derived cells (ENCDCs) leads to a molecular tipping point at which otherwise lesser cellular d...

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Literature Corpus work
d2fbdf2c-143a-59a9-a9ad-bfd253a3124c
DOI
10.1101/2025.03.04.641483
Open publication

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Joint disruption of <i>Ret</i> and <i>Ednrb</i> transcription drives cell fate reversal in the Enteric Nervous System in Hirschsprung diseaseDOI 10.1101/2025.03.04.641483
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