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Article

Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.

Human genetics - 1 May 2001

Vanhorne J B, Gimm O, Myers S M, Kaushik A, von Deimling A, Eng C, Mulligan L M

Abstract excerpt

The glial-cell-line-derived neurotrophic factor (GDNF) family receptors alpha (GFRalpha) are cell surface bound glycoproteins that mediate interactions of the GDNF ligand family with the RET receptor. These interactions are crucial to the development of the kidney and some peripheral nerve lineag...

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Source

Identifiers

PMID: 11409869
DOI: 10.1007/s004390100506

Genes

GFRA2
RET
GDNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11409869-2026-09-01.1. 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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Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.PMID 11409869Read ↗

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.Semantic proximity Read ↗

Characterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung disease.Semantic proximity Read ↗

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 ↗

Mutations of the RET proto-oncogene in 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 ↗

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

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

Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19.Semantic proximity Read ↗

Evaluation of the NK2 homeobox 1 gene (NKX2-1) as a Hirschsprung's disease locus.Semantic proximity Read ↗

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

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