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

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

Human molecular genetics - 1 Mar 1996

Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S

Abstract excerpt

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we report heterozygous...

Read the complete abstract on PubMed

Topics

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

Share to RET gene
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hirschsprung Disease

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Proto-Oncogene Mas

Share to Receptors, Endothelin

Share to Sequence Deletion

Source

Identifiers

PMID: 8852660
DOI: 10.1093/hmg/5.3.355

Genes

EDNRB
RET

Variants

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

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.PMID 8852660Read ↗

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung DiseaseSemantic proximity Read ↗

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.Semantic proximity Read ↗

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.Semantic proximity Read ↗

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.Semantic proximity Read ↗

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.Semantic proximity Read ↗

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.Semantic proximity Read ↗

Hirschsprung disease, associated syndromes and genetics: a review.Semantic proximity Read ↗

Hirschsprung's disease as a model of complex genetic etiology.Semantic proximity Read ↗

[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].Semantic proximity Read ↗

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].Semantic proximity Read ↗

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

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.Semantic proximity Read ↗

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