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

Affiliation

Institute of Diabetes and Regeneration Research, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Stem Cell Research, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Technische Universität München, Ismaningerstraße 22, 81675 München, Germany; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany. Electronic address: [Email]

Abstract

Hundreds of missense mutations in the coding region of PDX1 exist; however, if these mutations predispose to diabetes mellitus is unknown.

Keywords

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

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