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Article

A common variant upstream of the PAX6 gene influences islet function in man.

Diabetologia - 1 Jan 2012

Ahlqvist E, Turrini F, Lang S T, Taneera J, Zhou Y, Almgren P, Hansson O, Isomaa B, Tuomi T, Eriksson K, Eriksson J G, Lyssenko V, Groop L

Abstract excerpt

AIMS/HYPOTHESIS: Impaired glucose tolerance and impaired insulin secretion have been reported in families with PAX6 mutations and it is suggested that they result from defective proinsulin processing due to lack of prohormone convertase 1/3, encoded by PCSK1. We investigated whether a common PAX6 variant would mimic these findings and explored in detail its effect on islet function in man. METHODS: A PAX6...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21922321
DOI: 10.1007/s00125-011-2300-8

Genes

PAX6
PCSK1
GIP

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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