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Article

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.

Diabetes - 1 Feb 2016

Pal Aparna, Potjer Thomas P, Thomsen Soren K, Ng Hui Jin, Barrett Amy, Scharfmann Raphael, James Tim J, Bishop D Timothy, Karpe Fredrik, Godsland Ian F, Vasen Hans F A, Newton-Bishop Julia, Pijl Hanno, McCarthy Mark I, Gloyn Anna L

Abstract excerpt

At the CDKN2A/B locus, three independent signals for type 2 diabetes risk are located in a noncoding region near CDKN2A. The disease-associated alleles have been implicated in reduced β-cell function, but the underlying mechanism remains elusive. In mice, β-cell-specific loss of Cdkn2a causes hyperplasia, while overexpression leads to diabetes, highlighting CDKN2A as a candidate effector transcript. Rare CDKN2A...

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Identifiers

PMID: 26542317
DOI: 10.2337/db15-0602
PMCID: PMC4724950

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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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