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

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.

Gene - 10 May 2014

Müller Charlotte M, Haase Michael G, Kemnitz Ivonne, Fitze Guido

Abstract excerpt

Mutations and polymorphisms in the RET gene are a major cause of Hirschsprung disease (HSCR). Theoretically, all true heterozygous patients with a new manifestation of a genetically determined disease must have parents with a genetic mosaicism of some extent. However, no genetic mosaicism has been described for the RET gene in HSCR yet. Therefore, we analyzed families with mutations in the RET gene for genetic...

Read the complete abstract on PubMed

Topics

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

Share to Codon
Share to Cytosine
Share to Erythrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Frameshift Mutation

Share to Hirschsprung Disease

Share to Mosaicism

Share to Proto-Oncogene Proteins c-ret

Source

Identifiers

PMID: 24613280
DOI: 10.1016/j.gene.2014.02.027

Genes

RET

Variants

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

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.PMID 24613280Read ↗

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

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

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.Semantic proximity Read ↗

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].Semantic proximity Read ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

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

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

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.Semantic proximity Read ↗

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.Semantic proximity Read ↗

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.Semantic proximity Read ↗

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.Semantic proximity Read ↗

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.Semantic proximity Read ↗

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