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

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

Pediatric surgery international - 1 Oct 2017

Kawano Takafumi, Hosomichi Kazuyoshi, Inoue Ituro, Shimono Ryuichi, Onishi Shun, Nakame Kazuhiko, Kaji Tatsuru, Matsufuji Hiroshi, Ieiri Satoshi

Abstract excerpt

PURPOSE: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach's and Meissner's plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. METHODS: A Japanese family of five...

Read the complete abstract on PubMed

Topics

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

Share to RET gene
Share to Hirschsprung Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Proto-Oncogene Mas

Share to Proto-Oncogene Proteins c-ret

Source

Identifiers

PMID: 28799054
DOI: 10.1007/s00383-017-4134-z

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.PMID 28799054Read ↗

Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China.Semantic proximity Read ↗

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.Semantic proximity Read ↗

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.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 ↗

Exome sequencing identified a novel pathogenic RET variant with high variable expressivity and incomplete penetrance in an extended pedigree with Hirschsprung diseaseSemantic proximity Read ↗

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.Semantic proximity Read ↗

New mutations associated with Hirschsprung disease.Semantic proximity Read ↗

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

RET somatic mutations are underrecognized in Hirschsprung disease.Semantic proximity Read ↗

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

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)Semantic proximity Read ↗

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Semantic proximity Read ↗

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