Point mutations in the PDX1 transactivation domain impair human β-cell development and function.

Xianming Wang,Michael Sterr, Ansarullah,Ingo Burtscher,Anika Böttcher,Julia Beckenbauer,Johanna Siehler,Thomas Meitinger,Hans-Ulrich Häring,Harald Staiger,Filippo M Cernilogar,Gunnar Schotta,Martin Irmler,Johannes Beckers,Christopher V E Wright,Mostafa Bakhti,Heiko Lickert

Molecular Metabolism（2019）

引用 54|浏览59

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摘要

•Missense mutations in the transactivation domain reduce PDX1 target gene expression.•Lack of PDX1 target gene activation impairs both β-cell development and function.•Common PDX1 coding mutations likely predispose for diabetes.

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关键词

PDX1,Transactivation domain,β-Cell differentiation,Insulin secretion,PDX1-Bound genes

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