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Article

Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).

Diabetologia - 1 Mar 2009

Wen J H, Chen Y Y, Song S J, Ding J, Gao Y, Hu Q K, Feng R P, Liu Y Z, Ren G C, Zhang C Y, Hong T P, Gao X, Li L S

Abstract excerpt

AIMS/HYPOTHESIS: Human patients with aniridia caused by heterozygous PAX6 mutations display abnormal glucose metabolism, but the underlying molecular mechanism is largely unknown. Disturbed islet architecture has been proposed as the reason why mice with complete inactivation of paired box 6 (PAX6) in the pancreas develop diabetes. This is not, however, the case in human aniridia patients with heterozygous PAX6...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19034419
DOI: 10.1007/s00125-008-1210-x

Genes

PAX6

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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Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).PMID 19034419Read ↗

Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: A case-control study in families with congenital aniridia.Semantic proximity Read ↗

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A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.Semantic proximity Read ↗

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Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.Semantic proximity Read ↗

Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene.Semantic proximity Read ↗

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