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Article

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

Journal of molecular medicine (Berlin, Germany) - 1 May 2011

Ruiz-Ferrer Macarena, Torroglosa Ana, Luzón-Toro Berta, Fernández Raquel M, Antiñolo Guillermo, Mulligan Lois M, Borrego Salud

Abstract excerpt

Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract. The major susceptibility gene for the disease is the RET proto-oncogene, which encodes a receptor tyrosine kinase activated by the gl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21206993
DOI: 10.1007/s00109-010-0714-2

Genes

PSPN
RET
GDNF
NRTN
ARTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21206993-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.PMID 21206993Read ↗

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

Advances in molecular genetics of Hirschsprung's disease.Semantic proximity Read ↗

Molecular mechanisms of RET-induced Hirschsprung pathogenesis.Semantic proximity Read ↗

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

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.Semantic proximity Read ↗

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

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

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.Semantic proximity Read ↗

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

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.Semantic proximity Read ↗

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.Semantic proximity Read ↗

Correlation between multiple RET mutations and severity of Hirschsprung's disease.Semantic proximity Read ↗

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