Loss of function effect of RET mutations causing Hirschsprung disease.

doi:10.1038/ng0595-35

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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...

Topics

3T3 Cells
Animals
Base Sequence
Cell Differentiation
Cell Transformation, Neoplastic
Cyclic AMP-Dependent Protein Kinases
Drosophila Proteins
Exons
Genetic Complementation Test
HeLa Cells
Hirschsprung Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Mice

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

PC12 Cells

Phosphorylation

Source

Open in PubMed

Identifiers

PMID: 7647787
DOI: 10.1038/ng0595-35

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7647787-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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