Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.

Proceedings of the National Academy of Sciences of the United States of America - 18 Feb 2003

McCallion Andrew S, Stames Erine, Conlon Ronald A, Chakravarti Aravinda

Abstract excerpt

Clinical expression of Hirschsprung disease (HSCR) requires the interaction of multiple susceptibility genes. Molecular genetic analyses have revealed that interactions between mutations in the genes encoding the RET receptor tyrosine kinase and the endothelin receptor type B (EDNRB) are central to the genesis of HSCR. We have established two locus noncomplementation assays in mice, using allelic series at Ednrb...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hirschsprung Disease
Share to Kidney

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Proto-Oncogene Proteins

Share to Proto-Oncogene Proteins c-ret

Share to Receptor, Endothelin B

Share to Receptor Protein-Tyrosine Kinases

Share to Receptors, Endothelin

Share to Sex Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 12574515
DOI: 10.1073/pnas.0337540100
PMCID: PMC149918

Genes

EDNRB
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.PMID 12574515Read ↗

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.Semantic proximity Read ↗

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in 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 ↗

Hirschsprung's disease: genetic mutations in mice and men.Semantic proximity Read ↗

Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice.Semantic proximity Read ↗

Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.Semantic proximity Read ↗

Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease-like distal intestinal aganglionosis.Semantic proximity Read ↗

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

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Semantic proximity Read ↗

Molecular characterization of four induced alleles at the Ednrb locus.Semantic proximity Read ↗

[From monogenic to polygenic: model of Hirschsprung disease].Semantic proximity Read ↗

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.