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Article

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

Human molecular genetics - 1 Dec 1996

Ivanchuk S M, Myers S M, Eng C, Mulligan L M

Abstract excerpt

Hirschsprung disease (HSCR) is a common congenital abnormality characterized by absence of the enteric ganglia in the hind gut. In 10-40% of HSCR cases, mutations of the RET receptor tyrosine kinase have been found. The recent identification of a multimeric RET ligand/receptor complex suggested t...

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Source

Identifiers

PMID: 8968758
DOI: 10.1093/hmg/5.12.2023

Genes

GDNF
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8968758-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.PMID 8968758Read ↗

Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.Semantic proximity Read ↗

Investigation of germline GFR alpha-1 mutations in 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 ↗

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.Semantic proximity Read ↗

Mutations of the RET proto-oncogene in Hirschsprung's disease.Semantic proximity Read ↗

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientSemantic proximity Read ↗

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.Semantic proximity Read ↗

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.Semantic proximity Read ↗

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.Semantic proximity Read ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

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

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.Semantic proximity Read ↗

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