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Article

The effect of disease-associated HRPT2 mutations on splicing.

The Journal of endocrinology - 1 Jun 2009

Hahn Michael A, McDonnell Julie, Marsh Deborah J

Abstract excerpt

Mutations in the tumour suppressor HRPT2 occur in patients with parathyroid carcinoma, kidney tumours and Hyperparathyroidism-Jaw Tumour syndrome. Disruption of exonic splicing through mutation of donor/acceptor splice sites or exonic splice enhancer (ESE) sites leads to loss of function of a number of major tumour suppressors including BRCA1, APC and MLH1. Given that the effect of HRPT2 mutations on splicing has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19332451
DOI: 10.1677/JOE-09-0038

Genes

APC
BRCA1
MLH1

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

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The effect of disease-associated HRPT2 mutations on splicing.PMID 19332451Read ↗

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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Semantic proximity Read ↗

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