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Article

Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9.

Acta diabetologica - 1 Apr 2016

Sujjitjoon Jatuporn, Kooptiwut Suwattanee, Chongjaroen Nalinee, Tangjittipokin Watip, Plengvidhya Nattachet, Yenchitsomanus Pa-Thai

Abstract excerpt

AIMS: Paired box 4 (PAX4) mutations cause maturity-onset diabetes of the young, type 9 (MODY9). The molecular defect and alteration of PAX4 function associated with the mutation PAX4 IVS7-1G>A in a family with MODY9 and severe diabetic complications were studied. METHODS: We investigated the functional consequences of PAX4 IVS7-1G>A on mRNA splicing using minigene assays. Wild-type and mutant PAX4 were expressed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Homeodomain Proteins

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Share to Paired Box Transcription Factors

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Source

Identifiers

PMID: 25951767
DOI: 10.1007/s00592-015-0760-x

Genes

PAX4
INS

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.

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