Article

BxbI-mediated insertion of a 77kb human RET sensitive haplotype into the mouse genome to generate a humanized model of Hirschsprung disease

2026-07-06

Abstract excerpt

Hirschsprung disease (HSCR) is a complex developmental disorder of the enteric nervous system, primarily driven by regulatory variants within enhancer elements of the RET gene. To investigate how these variants lead to aganglionosis, we developed a humanized mouse model by inserting an intact 77kb human RET genomic locus into the Rosa26 safe-harbor locus. Utilizing “big DNA” synthetic biology and Bxb1-mediated...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6ccaa0d7-9edc-5772-a8f4-8dc3d136f638
DOI: 10.64898/2026.07.05.736620

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

BxbI-mediated insertion of a 77kb human RET sensitive haplotype into the mouse genome to generate a humanized model of Hirschsprung diseaseDOI 10.64898/2026.07.05.736620Read

A multi-enhancer RET regulatory code is disrupted in Hirschsprung diseaseSemantic proximity Read

Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson SyndromeSemantic proximity Read

RET enhancer haplotype-dependent remodeling of the human fetal gut development programSemantic proximity Read

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.Semantic proximity Read

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous systemSemantic proximity Read

RET enhancer haplotype-dependent remodeling of the human fetal gut development programSemantic proximity Read

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.Semantic proximity Read

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.Semantic proximity Read

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variantsSemantic proximity Read

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

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.Semantic proximity Read

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read