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

RET and NRG1 interplay in Hirschsprung disease.

Human genetics - 1 May 2013

Gui Hongsheng, Tang Wai-Kiu, So Man-Ting, Proitsi Petroola, Sham Pak C, Tam Paul K, Ngan Elly Sau-Wai, Sau-Wai Ngan Elly, Cherny Stacey S, Garcia-Barceló Maria-Mercè

Abstract excerpt

Hirschsprung disease (HSCR, aganglionic megacolon) is a complex genetic disorder of the enteric nervous system (ENS) characterized by the absence of enteric neurons along a variable length of the intestine. While rare variants (RVs) in the coding sequence (CDS) of several genes involved in ENS development lead to disease, the association of common variants (CVs) with HSCR has only been reported for RET (the major...

Read the complete abstract on PubMed

Topics

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

Share to Glial Cell Line-Derived Neurotrophic Factor
Share to HapMap Project

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hirschsprung Disease

Share to Intestines

Share to Neural Crest

Share to Neuregulin-1

Share to Proto-Oncogene Proteins c-ret

Share to Receptor, ErbB-2

Source

Identifiers

PMID: 23400839
DOI: 10.1007/s00439-013-1272-9

Genes

NRG1
RET
GDNF

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

RET and NRG1 interplay in Hirschsprung disease.PMID 23400839Read ↗

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

The developmental etiology and pathogenesis of Hirschsprung disease.Semantic proximity Read ↗

Genetics of Hirschsprung diseaseSemantic proximity Read ↗

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

Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.Semantic proximity Read ↗

Fine mapping of the NRG1 Hirschsprung's disease locus.Semantic proximity Read ↗

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

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

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.Semantic proximity Read ↗

Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Semantic proximity Read ↗

A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung diseaseSemantic proximity Read ↗

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read ↗

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