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

Fine mapping of the NRG1 Hirschsprung's disease locus.

PloS one - 20 Jan 2011

Tang Clara Sze-Man, Tang Wai-Kiu, So Man-Ting, Miao Xiao-Ping, Leung Brian Man-Chun, Yip Benjamin Hon-Kei, Leon Thomas Yuk-Yu, Ngan Elly Sau-Wai, Lui Vincent Chi-Hang, Chen Yan, Chan Ivy Hau-Yee, Chung Patrick Ho-Yu, Liu Xue-Lai, Wu Xuan-Zhao, Wong Kenneth Kak-Yuen, Sham Pak-Chung, Cherny Stacey S, Tam Paul Kwong-Hang, Garcia-Barceló Maria-Mercè

Abstract excerpt

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Epigenomics

Share to Genetic Loci

Share to Genome-Wide Association Study

Share to Hirschsprung Disease

Share to Neuregulin-1

Source

Open in PubMed Open full text

Identifiers

PMID: 21283760
DOI: 10.1371/journal.pone.0016181
PMCID: PMC3024406

Genes

NRG1
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fine mapping of the NRG1 Hirschsprung's disease locus.PMID 21283760Read ↗

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

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

NRG1 variant effects in patients with Hirschsprung disease.Semantic proximity Read ↗

Mutations in the NRG1 gene are associated with Hirschsprung disease.Semantic proximity Read ↗

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

Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.Semantic proximity Read ↗

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.Semantic proximity Read ↗

Multiple, independent, common variants overlapping known and putative gut enhancers at <i>RET</i> , <i>SEMA3</i> and <i>NRG1</i> underlie Hirschsprung disease risk in European ancestry subjectsSemantic proximity Read ↗

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

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

Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese.Semantic proximity Read ↗

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Semantic proximity Read ↗

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