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Article

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.

Nature genetics - 1 Jan 1998

Southard-Smith E M, Kos L, Pavan W J

Abstract excerpt

Hirschsprung disease (HSCR, MIM #142623) is a multigenic neurocristopathy (neural crest disorder) characterized by absence of enteric ganglia in a variable portion of the distal colon. Subsets of HSCR individuals also present with neural crest-derived melanocyte deficiencies (Hirschsprung-Waardenburg, HSCR-WS, MIM #277580). Murine models have been instrumental in the identification and analysis of HSCR disease...

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Source

Identifiers

PMID: 9425902
DOI: 10.1038/ng0198-60

Genes

SOX10
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.PMID 9425902Read ↗

The developmental etiology and pathogenesis of Hirschsprung disease.Semantic proximity Read ↗

The role of SOX10 during enteric nervous system development.Semantic proximity Read ↗

Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung diseaseSemantic proximity Read ↗

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.Semantic proximity Read ↗

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.Semantic proximity Read ↗

Combinatorial multiomic analysis from a pedigree of Sox10 <sup>Dom</sup> Hirschsprung mice implicates Dach1 as a modifier of Enteric Nervous System developmentSemantic proximity Read ↗

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.Semantic proximity Read ↗

Single Cell Profiling in the <i> Sox10 <sup>Dom/+</sup> </i> Hirschsprung Mouse Implicates <i>Hoxa6</i> in Enteric Neuron Lineage AllocationSemantic proximity Read ↗

Genetics of Hirschsprung diseaseSemantic proximity Read ↗

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.Semantic proximity Read ↗

Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.Semantic proximity Read ↗

Enteric Nervous System: Development and Developmental Disturbances—Part 1Semantic proximity Read ↗

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