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Article

Systematic structure-based analysis of RET variants in MEN2A and Hirschsprung's disease, and the paradoxical co-occurrence of both conditions.

Disease models & mechanisms - 1 Apr 2026

Fassler Bakhman Anna, Cohen Michal, Kolodny Rachel, Kosloff Mickey

Abstract excerpt

Variants in the human receptor tyrosine kinase RET can cause RET loss-of-function and Hirschsprung's disease (HSCR), while activating RET variants drive cancers including multiple endocrine neoplasia type 2 (MEN2). Paradoxically, some variants cause both HSCR and MEN2A. We curated 77 RET extracellular positions associated with HSCR, MEN2A or both and used a structure-based approach to predict the effects of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Multiple Endocrine Neoplasia Type 2a

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Share to Proto-Oncogene Proteins c-ret

Source

Open in PubMed Open full text

Identifiers

PMID: 41816802
DOI: 10.1242/dmm.052748
PMCID: PMC13225206

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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