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

Loss of function effect of RET mutations causing Hirschsprung disease.

Nature genetics - 1 May 1995

Pasini B, Borrello M G, Greco A, Bongarzone I, Luo Y, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R

Abstract excerpt

We have introduced three Hirschsprung (HSCR) mutations localized in the tyrosine kinase domain of RET into the RET/PTC2 chimaeric oncogene which is capable of transforming NIH3T3 mouse fibroblasts and of differentiating pC12 rat pheochromocytoma cells. The three HSCR mutations abolished the biological activity of RET/PTC2 in both cell types and significantly decreased its tyrosine phosphorylation. By contrast, a...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cell Differentiation
Share to Exons

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

Share to Genetic Complementation Test

Share to Molecular Sequence Data

Share to Mutagenesis, Site-Directed

Share to Mutation

Source

Identifiers

PMID: 7647787
DOI: 10.1038/ng0595-35

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

Loss of function effect of RET mutations causing Hirschsprung disease.PMID 7647787Read ↗

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.Semantic proximity Read ↗

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.Semantic proximity Read ↗

Mutations of the RET proto-oncogene in Hirschsprung's disease.Semantic proximity Read ↗

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.Semantic proximity Read ↗

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

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneSemantic proximity Read ↗

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.Semantic proximity Read ↗

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's diseaseSemantic proximity Read ↗

Functional Analysis of RET With Hirschsprung Mutations Affecting Its Kinase DomainSemantic proximity Read ↗

Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.Semantic proximity Read ↗

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

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

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