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Combined effects of <i>Ret</i> coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system

2025-01-23

Abstract excerpt

Hirschsprung disease (HSCR) is a congenital enteric neuropathy caused by disrupted development of enteric neural crest-derived cells (ENCDCs). Although pathogenic coding variants in RET account for many cases, the largest genetic contribution to HSCR risk arises from a common non-coding variant (rs2435357) within a SOX10-bound RET enhancer (MCS+9.7) that reduces RET gene expression in vivo and triggers expression...

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Literature Corpus work
c01e7bca-7375-5df3-9833-9a32f9ae2498
DOI
10.1101/2025.01.23.634550
Open publication

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Combined effects of <i>Ret</i> coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous systemDOI 10.1101/2025.01.23.634550
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