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

Objective: Hundreds of missense mutations in the coding region of PDX1 exist; however, if these mutations predispose to diabetes mellitus is unknown. Methods: In this study, we screened a large cohort of subjects with increased risk for diabetes and identified two subjects with impaired glucose tole...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2019-06-01
Series:Molecular Metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S2212877819301346