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A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease

12 Jul 2019

Abstract excerpt

Disruptions in gene regulatory networks (GRNs), driven by multiple deleterious variants, potentially underlie complex traits and diseases. Hirschsprung disease (HSCR), a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. We previously demonstrated that RET transcription in the ENS is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31313802
DOI: 10.1093/hmg/ddz149

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A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung diseasePMID 31313802Read ↗

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.Semantic proximity Read ↗

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.Semantic proximity Read ↗

A multi-enhancer <i>RET</i> regulatory code is disrupted in Hirschsprung diseaseSemantic proximity Read ↗

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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.Semantic proximity Read ↗

RET and NRG1 interplay in Hirschsprung disease.Semantic proximity Read ↗

Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3.Semantic proximity Read ↗

ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease.Semantic proximity Read ↗

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

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